Canonical Allele Identifier: CA16620597
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 418969
ClinVar RCV Id: RCV000485751
dbSNP Id: rs1064793556

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123595del , CM000679.2:g.72123595del GRCh38
NC_000017.10:g.70119736del , CM000679.1:g.70119736del GRCh37
NC_000017.9:g.67631331del NCBI36
NG_012490.1:g.7576del

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.738del MANE Select ENSP00000245479.2:p.Gln246HisfsTer7
ENST00000245479.2:c.738del ENSP00000245479.2:p.Gln246HisfsTer7
NM_000346.3:c.738del NP_000337.1:p.Gln246HisfsTer7
NM_000346.4:c.738del MANE Select NP_000337.1:p.Gln246HisfsTer7