Canonical Allele Identifier: CA645598842

Gene: SOX9

Linked Data

• COSMIC: COSM4616122

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72124151_72124155dup , CM000679.2:g.72124151_72124155dup	GRCh38
NC_000017.10:g.70120292_70120296dup , CM000679.1:g.70120292_70120296dup	GRCh37
NC_000017.9:g.67631887_67631891dup	NCBI36
NG_012490.1:g.8132_8136dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1294_1298dup MANE Select	ENSP00000245479.2:p.Pro434ThrfsTer?
ENST00000245479.2:c.1294_1298dup	ENSP00000245479.2:p.Pro434ThrfsTer?
NM_000346.3:c.1294_1298dup	NP_000337.1:p.Pro434ThrfsTer?
NM_000346.4:c.1294_1298dup MANE Select	NP_000337.1:p.Pro434ThrfsTer?