Canonical Allele Identifier: CA2273926508

Gene: SOX9

Linked Data

• dbSNP Id: rs1908193499

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123905_72123906del , CM000679.2:g.72123905_72123906del	GRCh38
NC_000017.10:g.70120046_70120047del , CM000679.1:g.70120046_70120047del	GRCh37
NC_000017.9:g.67631641_67631642del	NCBI36
NG_012490.1:g.7886_7887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1048_1049del MANE Select	ENSP00000245479.2:p.Pro350ThrfsTer?
ENST00000245479.2:c.1048_1049del	ENSP00000245479.2:p.Pro350ThrfsTer?
NM_000346.3:c.1048_1049del	NP_000337.1:p.Pro350ThrfsTer?
NM_000346.4:c.1048_1049del MANE Select	NP_000337.1:p.Pro350ThrfsTer?