---
-
allele_string: -/TTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG
assembly_name: GRCh37
end: 29508512
id: NC_000017.10:g.29508512_29508513insTTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG
input: NC_000017.10:g.29508512_29508513insTTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG
most_severe_consequence: splice_donor_region_variant
seq_region_name: 17
start: 29508513
strand: 1
transcript_consequences:
-
biotype: protein_coding
consequence_terms:
- splice_donor_region_variant
- intron_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: 7765
impact: LOW
strand: 1
transcript_id: ENST00000356175
variant_allele: TTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG
-
biotype: protein_coding
consequence_terms:
- splice_donor_region_variant
- intron_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: 7765
impact: LOW
strand: 1
transcript_id: ENST00000358273
variant_allele: TTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG
-
biotype: protein_coding
consequence_terms:
- splice_donor_region_variant
- intron_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: 7765
impact: LOW
strand: 1
transcript_id: ENST00000431387
variant_allele: TTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG
-
biotype: retained_intron
consequence_terms:
- splice_donor_region_variant
- intron_variant
- non_coding_transcript_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: 7765
impact: LOW
strand: 1
transcript_id: ENST00000487476
variant_allele: TTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG
-
biotype: retained_intron
consequence_terms:
- splice_donor_region_variant
- intron_variant
- non_coding_transcript_variant
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: 7765
impact: LOW
strand: 1
transcript_id: ENST00000490416
variant_allele: TTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG
-
biotype: nonsense_mediated_decay
consequence_terms:
- splice_donor_region_variant
- intron_variant
- NMD_transcript_variant
flags:
- cds_start_NF
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: 7765
impact: LOW
strand: 1
transcript_id: ENST00000495910
variant_allele: TTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG
-
biotype: nonsense_mediated_decay
consequence_terms:
- splice_donor_region_variant
- intron_variant
- NMD_transcript_variant
flags:
- cds_start_NF
gene_id: ENSG00000196712
gene_symbol: NF1
gene_symbol_source: HGNC
hgnc_id: 7765
impact: LOW
strand: 1
transcript_id: ENST00000579081
variant_allele: TTACAACCTCTCTGGTATTAAAATTTTGTTTTTGATGTAAAATTTGCTGTTGTTAGCATCCTGAATCAAAAAGTTATGACTTGAGTGATAGTTTCACATTCATTTTCAGGAAGAATACATTGTAATATTATTATGAAGGAAGTTAGAAGTTTGTGACATTTTATTTACTGTATTACAAAAAATCACTGTAAAGACATGTGGTTCTTTATTTATAGGCATTTTGGAACTGGGTAGAAAATTATCCAGATGAATTTACAAAACTGTACCAGATCCCACAGACTGATATGGCTGGTAATCCTAAAGAAGGTTGCGCAGTTAGCAGTTATAAATAGCCTGGAAAAGGTAAG