Canonical Allele Identifier: CA1619397269

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040005_32040006delinsGA , CM000668.2:g.32040005_32040006delinsGA	GRCh38
NC_000006.11:g.32007782_32007783delinsGA , CM000668.1:g.32007782_32007783delinsGA	GRCh37
NC_000006.10:g.32115761_32115762delinsGA	NCBI36
NG_007941.2:g.6698_6699delinsGA
NG_008337.2:g.74369_74370delinsTC
NG_007941.3:g.6701_6702delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.739_740delinsGA MANE Select	ENSP00000496625.1:p.Glu247=
ENST00000418967.6:c.739_740delinsGA	ENSP00000408860.2:p.Glu247=
ENST00000435122.3:c.649_650delinsGA	ENSP00000415043.2:p.Glu217=
ENST00000479074.5:n.797_798delinsGA
ENST00000479730.5:n.855_856delinsGA
ENST00000483041.5:n.908_909delinsGA
ENST00000486063.5:n.918+170_918+171delinsGA
NM_000500.7:c.739_740delinsGA	NP_000491.4:p.Glu247=
NM_001128590.3:c.649_650delinsGA	NP_001122062.3:p.Glu217=
XM_011514314.1:c.334_335delinsGA	XP_011512616.1:p.Glu112=
NM_000500.9:c.739_740delinsGA MANE Select	NP_000491.4:p.Glu247=
NM_001368143.1:c.334_335delinsGA	NP_001355072.1:p.Glu112=
NM_001368144.1:c.334_335delinsGA	NP_001355073.1:p.Glu112=
NM_001128590.4:c.649_650delinsGA	NP_001122062.3:p.Glu217=
NM_001368143.2:c.334_335delinsGA	NP_001355072.1:p.Glu112=
NM_001368144.2:c.334_335delinsGA	NP_001355073.1:p.Glu112=