Canonical Allele Identifier: CA645598832

Gene: SOX9

Linked Data

• COSMIC: COSM5078379

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72124037dup , CM000679.2:g.72124037dup	GRCh38
NC_000017.10:g.70120178dup , CM000679.1:g.70120178dup	GRCh37
NC_000017.9:g.67631773dup	NCBI36
NG_012490.1:g.8018dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000245479.3:c.1180dup MANE Select	ENSP00000245479.2:p.Arg394ProfsTer?
ENST00000245479.2:c.1180dup	ENSP00000245479.2:p.Arg394ProfsTer?
NM_000346.3:c.1180dup	NP_000337.1:p.Arg394ProfsTer?
NM_000346.4:c.1180dup MANE Select	NP_000337.1:p.Arg394ProfsTer?