Canonical Allele Identifier: CA1619399390

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040764_32040765delinsCT , CM000668.2:g.32040764_32040765delinsCT	GRCh38
NC_000006.11:g.32008541_32008542delinsCT , CM000668.1:g.32008541_32008542delinsCT	GRCh37
NC_000006.10:g.32116520_32116521delinsCT	NCBI36
NG_007941.2:g.7457_7458delinsCT
NG_008337.2:g.73610_73611delinsAG
NG_007941.3:g.7460_7461delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1215_1216delinsCT MANE Select	ENSP00000496625.1:p.Phe405=
ENST00000418967.6:c.1215_1216delinsCT	ENSP00000408860.2:p.Phe405=
ENST00000435122.3:c.1125_1126delinsCT	ENSP00000415043.2:p.Phe375=
ENST00000479074.5:n.1356_1357delinsCT
ENST00000479730.5:n.1331_1332delinsCT
ENST00000483041.5:n.1384_1385delinsCT
ENST00000486063.5:n.1194_1195delinsCT
NM_000500.7:c.1215_1216delinsCT	NP_000491.4:p.Phe405=
NM_001128590.3:c.1125_1126delinsCT	NP_001122062.3:p.Phe375=
XM_011514314.1:c.810_811delinsCT	XP_011512616.1:p.Phe270=
NM_000500.9:c.1215_1216delinsCT MANE Select	NP_000491.4:p.Phe405=
NM_001368143.1:c.810_811delinsCT	NP_001355072.1:p.Phe270=
NM_001368144.1:c.810_811delinsCT	NP_001355073.1:p.Phe270=
NM_001128590.4:c.1125_1126delinsCT	NP_001122062.3:p.Phe375=
NM_001368143.2:c.810_811delinsCT	NP_001355072.1:p.Phe270=
NM_001368144.2:c.810_811delinsCT	NP_001355073.1:p.Phe270=