Canonical Allele Identifier: CA2580095098
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2277286
ClinVar RCV Id: RCV002844090

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123929_72123940del , CM000679.2:g.72123929_72123940del GRCh38
NC_000017.10:g.70120070_70120081del , CM000679.1:g.70120070_70120081del GRCh37
NC_000017.9:g.67631665_67631676del NCBI36
NG_012490.1:g.7910_7921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1072_1083del MANE Select ENSP00000245479.2:p.Ala358_Gln361del
ENST00000245479.2:c.1072_1083del ENSP00000245479.2:p.Ala358_Gln361del
NM_000346.3:c.1072_1083del NP_000337.1:p.Ala358_Gln361del
NM_000346.4:c.1072_1083del MANE Select NP_000337.1:p.Ala358_Gln361del