Canonical Allele Identifier: CA2695206171

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039791_32039793del , CM000668.2:g.32039791_32039793del	GRCh38
NC_000006.11:g.32007568_32007570del , CM000668.1:g.32007568_32007570del	GRCh37
NC_000006.10:g.32115547_32115549del	NCBI36
NG_007941.2:g.6484_6486del
NG_008337.2:g.74582_74584del
NG_007941.3:g.6487_6489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.694_696del MANE Select	ENSP00000496625.1:p.Glu232del
ENST00000418967.6:c.694_696del	ENSP00000408860.2:p.Glu232del
ENST00000435122.3:c.604_606del	ENSP00000415043.2:p.Glu202del
ENST00000462278.1:n.383_385del
ENST00000466779.5:c.*386_*388del	ENSP00000417321.1:n.*386_*388del
ENST00000466879.5:n.745_747del
ENST00000479074.5:n.752_754del
ENST00000479730.5:n.810_812del
ENST00000483041.5:n.863_865del
ENST00000486063.5:n.874_876del
NM_000500.7:c.694_696del	NP_000491.4:p.Glu232del
NM_001128590.3:c.604_606del	NP_001122062.3:p.Glu202del
XM_011514314.1:c.289_291del	XP_011512616.1:p.Glu97del
NM_000500.9:c.694_696del MANE Select	NP_000491.4:p.Glu232del
NM_001368143.1:c.289_291del	NP_001355072.1:p.Glu97del
NM_001368144.1:c.289_291del	NP_001355073.1:p.Glu97del
NM_001128590.4:c.604_606del	NP_001122062.3:p.Glu202del
NM_001368143.2:c.289_291del	NP_001355072.1:p.Glu97del
NM_001368144.2:c.289_291del	NP_001355073.1:p.Glu97del