Canonical Allele Identifier: CA2810344964

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123936dup , CM000679.2:g.72123936dup	GRCh38
NC_000017.10:g.70120077dup , CM000679.1:g.70120077dup	GRCh37
NC_000017.9:g.67631672dup	NCBI36
NG_012490.1:g.7917dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1079dup MANE Select	ENSP00000245479.2:p.Gln361AlafsTer?
ENST00000245479.2:c.1079dup	ENSP00000245479.2:p.Gln361AlafsTer?
NM_000346.3:c.1079dup	NP_000337.1:p.Gln361AlafsTer?
NM_000346.4:c.1079dup MANE Select	NP_000337.1:p.Gln361AlafsTer?