Canonical Allele Identifier: CA2578574239

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040925del , CM000668.2:g.32040925del	GRCh38
NC_000006.11:g.32008702del , CM000668.1:g.32008702del	GRCh37
NC_000006.10:g.32116681del	NCBI36
NG_007941.2:g.7618del
NG_008337.2:g.73452del
NG_007941.3:g.7621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1279del MANE Select	ENSP00000496625.1:p.Arg427AlafsTer17
ENST00000418967.6:c.1279del	ENSP00000408860.2:p.Arg427AlafsTer17
ENST00000435122.3:c.1189del	ENSP00000415043.2:p.Arg397AlafsTer17
ENST00000479074.5:n.1420del
ENST00000479730.5:n.1395del
ENST00000483041.5:n.1448del
ENST00000486063.5:n.1258del
NM_000500.7:c.1279del	NP_000491.4:p.Arg427AlafsTer17
NM_001128590.3:c.1189del	NP_001122062.3:p.Arg397AlafsTer17
XM_011514314.1:c.874del	XP_011512616.1:p.Arg292AlafsTer17
NM_000500.9:c.1279del MANE Select	NP_000491.4:p.Arg427AlafsTer17
NM_001368143.1:c.874del	NP_001355072.1:p.Arg292AlafsTer17
NM_001368144.1:c.874del	NP_001355073.1:p.Arg292AlafsTer17
NM_001128590.4:c.1189del	NP_001122062.3:p.Arg397AlafsTer17
NM_001368143.2:c.874del	NP_001355072.1:p.Arg292AlafsTer17
NM_001368144.2:c.874del	NP_001355073.1:p.Arg292AlafsTer17