Canonical Allele Identifier: CA645598841

Gene: SOX9

Linked Data

• COSMIC: COSM4729230

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72124138_72124160del , CM000679.2:g.72124138_72124160del	GRCh38
NC_000017.10:g.70120279_70120301del , CM000679.1:g.70120279_70120301del	GRCh37
NC_000017.9:g.67631874_67631896del	NCBI36
NG_012490.1:g.8119_8141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1281_1303del MANE Select	ENSP00000245479.2:p.Tyr428HisfsTer?
ENST00000245479.2:c.1281_1303del	ENSP00000245479.2:p.Tyr428HisfsTer?
NM_000346.3:c.1281_1303del	NP_000337.1:p.Tyr428HisfsTer?
NM_000346.4:c.1281_1303del MANE Select	NP_000337.1:p.Tyr428HisfsTer?