Canonical Allele Identifier: CA913189140
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123887-CCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123904_72123987del , CM000679.2:g.72123904_72123987del GRCh38
NC_000017.10:g.70120045_70120128del , CM000679.1:g.70120045_70120128del GRCh37
NC_000017.9:g.67631640_67631723del NCBI36
NG_012490.1:g.7885_7968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1047_1130del MANE Select ENSP00000245479.2:p.Pro350_Pro377del
ENST00000245479.2:c.1047_1130del ENSP00000245479.2:p.Pro350_Pro377del
NM_000346.3:c.1047_1130del NP_000337.1:p.Pro350_Pro377del
NM_000346.4:c.1047_1130del MANE Select NP_000337.1:p.Pro350_Pro377del
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