---
-
allele_string: TTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGGTAAGAGTATTATTTTTCATTGCCTTACTGAAAGTCAGAATGCAGTTTTGAGAACTAAAAAGTTAGTGTATAATAGTTTAAATAAAATGTTGTGGTGAAGAAAAGAGAGTAATAGCAATGTCACTTTTACCATTTAGGATAGCAAATACTTAGGTAAATGCTGAACTGTGGATAGTGAGTGTTGAATTAACCTTTTCCAGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAAC/-
assembly_name: GRCh37
end: 41266626
id: 3:g.41266031_41266626del
input: 3:g.41266031_41266626del
most_severe_consequence: splice_acceptor_variant
seq_region_name: 3
start: 41266031
strand: 1
transcript_consequences:
-
amino_acids: LDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLIN/-
biotype: protein_coding
cdna_end: 703
cdna_start: 308
cds_end: 423
cds_start: 28
codons: TTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAAC/-
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- inframe_deletion
- splice_donor_5th_base_variant
- intron_variant
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: HIGH
protein_end: 141
protein_start: 10
strand: 1
transcript_id: ENST00000349496
variant_allele: "-"
-
amino_acids: LDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLIN/-
biotype: protein_coding
cdna_end: 708
cdna_start: 313
cds_end: 423
cds_start: 28
codons: TTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAAC/-
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- inframe_deletion
- splice_donor_5th_base_variant
- intron_variant
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: HIGH
protein_end: 141
protein_start: 10
strand: 1
transcript_id: ENST00000396183
variant_allele: "-"
-
amino_acids: LDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLIN/-
biotype: protein_coding
cdna_end: 637
cdna_start: 242
cds_end: 423
cds_start: 28
codons: TTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAAC/-
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- inframe_deletion
- splice_donor_5th_base_variant
- intron_variant
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: HIGH
protein_end: 141
protein_start: 10
strand: 1
transcript_id: ENST00000396185
variant_allele: "-"
-
amino_acids: LDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLIN/-
biotype: protein_coding
cdna_end: 579
cdna_start: 184
cds_end: 423
cds_start: 28
codons: TTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAAC/-
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- inframe_deletion
- splice_donor_5th_base_variant
- intron_variant
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: HIGH
protein_end: 141
protein_start: 10
strand: 1
transcript_id: ENST00000405570
variant_allele: "-"
-
biotype: protein_coding
cdna_end: 392
cdna_start: 392
cds_end: 7
cds_start: 7
consequence_terms:
- coding_sequence_variant
- 3_prime_UTR_variant
flags:
- cds_end_NF
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: MODIFIER
protein_end: 3
protein_start: 3
strand: 1
transcript_id: ENST00000426215
variant_allele: "-"
-
amino_acids: LDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLIN/-
biotype: protein_coding
cdna_end: 608
cdna_start: 213
cds_end: 423
cds_start: 28
codons: TTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAAC/-
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- inframe_deletion
- splice_donor_5th_base_variant
- intron_variant
flags:
- cds_end_NF
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: HIGH
protein_end: 141
protein_start: 10
strand: 1
transcript_id: ENST00000431914
variant_allele: "-"
-
biotype: protein_coding
cdna_end: 585
cdna_start: 585
cds_end: 28
cds_start: 28
consequence_terms:
- coding_sequence_variant
- 3_prime_UTR_variant
flags:
- cds_end_NF
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: MODIFIER
protein_end: 10
protein_start: 10
strand: 1
transcript_id: ENST00000433400
variant_allele: "-"
-
biotype: protein_coding
cdna_end: 336
cdna_start: 336
cds_end: 28
cds_start: 28
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- coding_sequence_variant
- 3_prime_UTR_variant
- intron_variant
flags:
- cds_end_NF
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: HIGH
protein_end: 10
protein_start: 10
strand: 1
transcript_id: ENST00000441708
variant_allele: "-"
-
biotype: protein_coding
cdna_end: 347
cdna_start: 347
cds_end: 28
cds_start: 28
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- coding_sequence_variant
- 3_prime_UTR_variant
- intron_variant
flags:
- cds_end_NF
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: HIGH
protein_end: 10
protein_start: 10
strand: 1
transcript_id: ENST00000450969
variant_allele: "-"
-
amino_acids: LDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTSQVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPTNVQRLAEPSQMLKHAVVNLIN/-
biotype: protein_coding
cdna_end: 829
cdna_start: 434
cds_end: 402
cds_start: 7
codons: TTGGACATGGCCATGGAACCAGACAGAAAAGCGGCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCCCAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCTGATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCTGAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACTAATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATTAAC/-
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- inframe_deletion
- splice_donor_5th_base_variant
- intron_variant
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: HIGH
protein_end: 134
protein_start: 3
strand: 1
transcript_id: ENST00000453024
variant_allele: "-"
-
biotype: retained_intron
cdna_end: 509
cdna_start: 114
consequence_terms:
- splice_acceptor_variant
- splice_donor_variant
- splice_donor_5th_base_variant
- non_coding_transcript_exon_variant
- intron_variant
gene_id: ENSG00000168036
gene_symbol: CTNNB1
gene_symbol_source: HGNC
hgnc_id: 2514
impact: HIGH
strand: 1
transcript_id: ENST00000488914
variant_allele: "-"