Canonical Allele Identifier: CA1619397243

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039951_32039952delinsCT , CM000668.2:g.32039951_32039952delinsCT	GRCh38
NC_000006.11:g.32007728_32007729delinsCT , CM000668.1:g.32007728_32007729delinsCT	GRCh37
NC_000006.10:g.32115707_32115708delinsCT	NCBI36
NG_007941.2:g.6644_6645delinsCT
NG_008337.2:g.74423_74424delinsAG
NG_007941.3:g.6647_6648delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.739-54_739-53delinsCT MANE Select	ENSP00000496625.1:n.739-54_739-53delinsCT
ENST00000418967.6:c.739-54_739-53delinsCT	ENSP00000408860.2:n.739-54_739-53delinsCT
ENST00000435122.3:c.649-54_649-53delinsCT	ENSP00000415043.2:n.649-54_649-53delinsCT
ENST00000462278.1:n.543_544delinsCT
ENST00000479074.5:n.797-54_797-53delinsCT
ENST00000479730.5:n.855-54_855-53delinsCT
ENST00000483041.5:n.908-54_908-53delinsCT
ENST00000486063.5:n.918+116_918+117delinsCT
NM_000500.7:c.739-54_739-53delinsCT	NP_000491.4:n.739-54_739-53delinsCT
NM_001128590.3:c.649-54_649-53delinsCT	NP_001122062.3:n.649-54_649-53delinsCT
XM_011514314.1:c.334-54_334-53delinsCT	XP_011512616.1:n.334-54_334-53delinsCT
NM_000500.9:c.739-54_739-53delinsCT MANE Select	NP_000491.4:n.739-54_739-53delinsCT
NM_001368143.1:c.334-54_334-53delinsCT	NP_001355072.1:n.334-54_334-53delinsCT
NM_001368144.1:c.334-54_334-53delinsCT	NP_001355073.1:n.334-54_334-53delinsCT
NM_001128590.4:c.649-54_649-53delinsCT	NP_001122062.3:n.649-54_649-53delinsCT
NM_001368143.2:c.334-54_334-53delinsCT	NP_001355072.1:n.334-54_334-53delinsCT
NM_001368144.2:c.334-54_334-53delinsCT	NP_001355073.1:n.334-54_334-53delinsCT