Canonical Allele Identifier: CA2573320478

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123562_72123563insCC , CM000679.2:g.72123562_72123563insCC	GRCh38
NC_000017.10:g.70119703_70119704insCC , CM000679.1:g.70119703_70119704insCC	GRCh37
NC_000017.9:g.67631298_67631299insCC	NCBI36
NG_012490.1:g.7543_7544insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.705_706insCC MANE Select	ENSP00000245479.2:p.Thr236ProfsTer18
ENST00000245479.2:c.705_706insCC	ENSP00000245479.2:p.Thr236ProfsTer18
NM_000346.3:c.705_706insCC	NP_000337.1:p.Thr236ProfsTer18
NM_000346.4:c.705_706insCC MANE Select	NP_000337.1:p.Thr236ProfsTer18