Canonical Allele Identifier: CA645598917
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM5129909
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123623_72123627dup , CM000679.2:g.72123623_72123627dup GRCh38
NC_000017.10:g.70119764_70119768dup , CM000679.1:g.70119764_70119768dup GRCh37
NC_000017.9:g.67631359_67631363dup NCBI36
NG_012490.1:g.7604_7608dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.766_770dup MANE Select ENSP00000245479.2:p.Pro258GlyfsTer23
ENST00000245479.2:c.766_770dup ENSP00000245479.2:p.Pro258GlyfsTer23
NM_000346.3:c.766_770dup NP_000337.1:p.Pro258GlyfsTer23
NM_000346.4:c.766_770dup MANE Select NP_000337.1:p.Pro258GlyfsTer23
Search 100 bp 5'
Search 100 bp 3'