Canonical Allele Identifier: CA2580095140
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1709966
ClinVar RCV Id: RCV002290308
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123673_72123674insTCCGTGAC , CM000679.2:g.72123673_72123674insTCCGTGAC GRCh38
NC_000017.10:g.70119814_70119815insTCCGTGAC , CM000679.1:g.70119814_70119815insTCCGTGAC GRCh37
NC_000017.9:g.67631409_67631410insTCCGTGAC NCBI36
NG_012490.1:g.7654_7655insTCCGTGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.816_817insTCCGTGAC MANE Select ENSP00000245479.2:p.Val273SerfsTer9
ENST00000245479.2:c.816_817insTCCGTGAC ENSP00000245479.2:p.Val273SerfsTer9
NM_000346.3:c.816_817insTCCGTGAC NP_000337.1:p.Val273SerfsTer9
NM_000346.4:c.816_817insTCCGTGAC MANE Select NP_000337.1:p.Val273SerfsTer9
Search 100 bp 5'
Search 100 bp 3'