Canonical Allele Identifier: CA645598840

Gene: SOX9

Linked Data

• COSMIC: COSM5076428

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72124134_72124135insGA , CM000679.2:g.72124134_72124135insGA	GRCh38
NC_000017.10:g.70120275_70120276insGA , CM000679.1:g.70120275_70120276insGA	GRCh37
NC_000017.9:g.67631870_67631871insGA	NCBI36
NG_012490.1:g.8115_8116insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1277_1278insGA MANE Select	ENSP00000245479.2:p.His427AsnfsTer?
ENST00000245479.2:c.1277_1278insGA	ENSP00000245479.2:p.His427AsnfsTer?
NM_000346.3:c.1277_1278insGA	NP_000337.1:p.His427AsnfsTer?
NM_000346.4:c.1277_1278insGA MANE Select	NP_000337.1:p.His427AsnfsTer?