Canonical Allele Identifier: CA645598936
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM295047
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123991_72123992dup , CM000679.2:g.72123991_72123992dup GRCh38
NC_000017.10:g.70120132_70120133dup , CM000679.1:g.70120132_70120133dup GRCh37
NC_000017.9:g.67631727_67631728dup NCBI36
NG_012490.1:g.7972_7973dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1134_1135dup MANE Select ENSP00000245479.2:p.Ala379GlyfsTer5
ENST00000245479.2:c.1134_1135dup ENSP00000245479.2:p.Ala379GlyfsTer5
NM_000346.3:c.1134_1135dup NP_000337.1:p.Ala379GlyfsTer5
NM_000346.4:c.1134_1135dup MANE Select NP_000337.1:p.Ala379GlyfsTer5
Search 100 bp 5'
Search 100 bp 3'