Canonical Allele Identifier: CA2499344330

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040511_32040519del , CM000668.2:g.32040511_32040519del	GRCh38
NC_000006.11:g.32008288_32008296del , CM000668.1:g.32008288_32008296del	GRCh37
NC_000006.10:g.32116267_32116275del	NCBI36
NG_007941.2:g.7204_7212del
NG_008337.2:g.73859_73867del
NG_007941.3:g.7207_7215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1045_1053del MANE Select	ENSP00000496625.1:p.Thr349_Ala351del
ENST00000418967.6:c.1045_1053del	ENSP00000408860.2:p.Thr349_Ala351del
ENST00000435122.3:c.955_963del	ENSP00000415043.2:p.Thr319_Ala321del
ENST00000479074.5:n.1103_1111del
ENST00000479730.5:n.1161_1169del
ENST00000483041.5:n.1214_1222del
ENST00000486063.5:n.1024_1032del
NM_000500.7:c.1045_1053del	NP_000491.4:p.Thr349_Ala351del
NM_001128590.3:c.955_963del	NP_001122062.3:p.Thr319_Ala321del
XM_011514314.1:c.640_648del	XP_011512616.1:p.Thr214_Ala216del
NM_000500.9:c.1045_1053del MANE Select	NP_000491.4:p.Thr349_Ala351del
NM_001368143.1:c.640_648del	NP_001355072.1:p.Thr214_Ala216del
NM_001368144.1:c.640_648del	NP_001355073.1:p.Thr214_Ala216del
NM_001128590.4:c.955_963del	NP_001122062.3:p.Thr319_Ala321del
NM_001368143.2:c.640_648del	NP_001355072.1:p.Thr214_Ala216del
NM_001368144.2:c.640_648del	NP_001355073.1:p.Thr214_Ala216del