Canonical Allele Identifier: CA645598906

Gene: SOX9

Linked Data

• COSMIC: COSM4614807

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122867_72122870dup , CM000679.2:g.72122867_72122870dup	GRCh38
NC_000017.10:g.70119008_70119011dup , CM000679.1:g.70119008_70119011dup	GRCh37
NC_000017.9:g.67630603_67630606dup	NCBI36
NG_012490.1:g.6848_6851dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.580_583dup MANE Select	ENSP00000245479.2:p.Gln195ArgfsTer?
ENST00000245479.2:c.580_583dup	ENSP00000245479.2:p.Gln195ArgfsTer?
NM_000346.3:c.580_583dup	NP_000337.1:p.Gln195ArgfsTer?
NM_000346.4:c.580_583dup MANE Select	NP_000337.1:p.Gln195ArgfsTer?