Canonical Allele Identifier: CA1619399494

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040916_32040925delinsTGCGGTGCCC , CM000668.2:g.32040916_32040925delinsTGCGGTGCCC	GRCh38
NC_000006.11:g.32008693_32008702delinsTGCGGTGCCC , CM000668.1:g.32008693_32008702delinsTGCGGTGCCC	GRCh37
NC_000006.10:g.32116672_32116681delinsTGCGGTGCCC	NCBI36
NG_007941.2:g.7609_7618delinsTGCGGTGCCC
NG_008337.2:g.73450_73459delinsGGGCACCGCA
NG_007941.3:g.7612_7621delinsTGCGGTGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1270_1279delinsTGCGGTGCCC MANE Select	ENSP00000496625.1:p.Cys424=
ENST00000418967.6:c.1270_1279delinsTGCGGTGCCC	ENSP00000408860.2:p.Cys424=
ENST00000435122.3:c.1180_1189delinsTGCGGTGCCC	ENSP00000415043.2:p.Cys394=
ENST00000479074.5:n.1411_1420delinsTGCGGTGCCC
ENST00000479730.5:n.1386_1395delinsTGCGGTGCCC
ENST00000483041.5:n.1439_1448delinsTGCGGTGCCC
ENST00000486063.5:n.1249_1258delinsTGCGGTGCCC
NM_000500.7:c.1270_1279delinsTGCGGTGCCC	NP_000491.4:p.Cys424=
NM_001128590.3:c.1180_1189delinsTGCGGTGCCC	NP_001122062.3:p.Cys394=
XM_011514314.1:c.865_874delinsTGCGGTGCCC	XP_011512616.1:p.Cys289=
NM_000500.9:c.1270_1279delinsTGCGGTGCCC MANE Select	NP_000491.4:p.Cys424=
NM_001368143.1:c.865_874delinsTGCGGTGCCC	NP_001355072.1:p.Cys289=
NM_001368144.1:c.865_874delinsTGCGGTGCCC	NP_001355073.1:p.Cys289=
NM_001128590.4:c.1180_1189delinsTGCGGTGCCC	NP_001122062.3:p.Cys394=
NM_001368143.2:c.865_874delinsTGCGGTGCCC	NP_001355072.1:p.Cys289=
NM_001368144.2:c.865_874delinsTGCGGTGCCC	NP_001355073.1:p.Cys289=