Canonical Allele Identifier: CA2695206169

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039759del , CM000668.2:g.32039759del	GRCh38
NC_000006.11:g.32007536del , CM000668.1:g.32007536del	GRCh37
NC_000006.10:g.32115515del	NCBI36
NG_007941.2:g.6452del
NG_008337.2:g.74617del
NG_007941.3:g.6455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.662del MANE Select	ENSP00000496625.1:p.Asn221IlefsTer7
ENST00000418967.6:c.662del	ENSP00000408860.2:p.Asn221IlefsTer7
ENST00000435122.3:c.572del	ENSP00000415043.2:p.Asn191IlefsTer7
ENST00000462278.1:n.351del
ENST00000466779.5:c.*354del	ENSP00000417321.1:n.*354del
ENST00000466879.5:n.713del
ENST00000479074.5:n.720del
ENST00000479730.5:n.778del
ENST00000483041.5:n.831del
ENST00000486063.5:n.842del
NM_000500.7:c.662del	NP_000491.4:p.Asn221IlefsTer7
NM_001128590.3:c.572del	NP_001122062.3:p.Asn191IlefsTer7
XM_011514314.1:c.257del	XP_011512616.1:p.Asn86IlefsTer7
NM_000500.9:c.662del MANE Select	NP_000491.4:p.Asn221IlefsTer7
NM_001368143.1:c.257del	NP_001355072.1:p.Asn86IlefsTer7
NM_001368144.1:c.257del	NP_001355073.1:p.Asn86IlefsTer7
NM_001128590.4:c.572del	NP_001122062.3:p.Asn191IlefsTer7
NM_001368143.2:c.257del	NP_001355072.1:p.Asn86IlefsTer7
NM_001368144.2:c.257del	NP_001355073.1:p.Asn86IlefsTer7