Canonical Allele Identifier: CA2839053971

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040106dup , CM000668.2:g.32040106dup	GRCh38
NC_000006.11:g.32007883dup , CM000668.1:g.32007883dup	GRCh37
NC_000006.10:g.32115862dup	NCBI36
NG_007941.2:g.6799dup
NG_008337.2:g.74271dup
NG_007941.3:g.6802dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.840dup MANE Select	ENSP00000496625.1:p.His281AlafsTer15
ENST00000418967.6:c.840dup	ENSP00000408860.2:p.His281AlafsTer15
ENST00000435122.3:c.750dup	ENSP00000415043.2:p.His251AlafsTer15
ENST00000479074.5:n.898dup
ENST00000479730.5:n.956dup
ENST00000483041.5:n.1009dup
ENST00000486063.5:n.918+271dup
NM_000500.7:c.840dup	NP_000491.4:p.His281AlafsTer15
NM_001128590.3:c.750dup	NP_001122062.3:p.His251AlafsTer15
XM_011514314.1:c.435dup	XP_011512616.1:p.His146AlafsTer15
NM_000500.9:c.840dup MANE Select	NP_000491.4:p.His281AlafsTer15
NM_001368143.1:c.435dup	NP_001355072.1:p.His146AlafsTer15
NM_001368144.1:c.435dup	NP_001355073.1:p.His146AlafsTer15
NM_001128590.4:c.750dup	NP_001122062.3:p.His251AlafsTer15
NM_001368143.2:c.435dup	NP_001355072.1:p.His146AlafsTer15
NM_001368144.2:c.435dup	NP_001355073.1:p.His146AlafsTer15