Canonical Allele Identifier: CA1619397463

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040421_32040424delinsCAGG , CM000668.2:g.32040421_32040424delinsCAGG	GRCh38
NC_000006.11:g.32008198_32008201delinsCAGG , CM000668.1:g.32008198_32008201delinsCAGG	GRCh37
NC_000006.10:g.32116177_32116180delinsCAGG	NCBI36
NG_007941.2:g.7114_7117delinsCAGG
NG_008337.2:g.73951_73954delinsCCTG
NG_007941.3:g.7117_7120delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.955_958delinsCAGG MANE Select	ENSP00000496625.1:p.Gln319=
ENST00000418967.6:c.955_958delinsCAGG	ENSP00000408860.2:p.Gln319=
ENST00000435122.3:c.865_868delinsCAGG	ENSP00000415043.2:p.Gln289=
ENST00000479074.5:n.1013_1016delinsCAGG
ENST00000479730.5:n.1071_1074delinsCAGG
ENST00000483041.5:n.1124_1127delinsCAGG
ENST00000486063.5:n.934_937delinsCAGG
NM_000500.7:c.955_958delinsCAGG	NP_000491.4:p.Gln319=
NM_001128590.3:c.865_868delinsCAGG	NP_001122062.3:p.Gln289=
XM_011514314.1:c.550_553delinsCAGG	XP_011512616.1:p.Gln184=
NM_000500.9:c.955_958delinsCAGG MANE Select	NP_000491.4:p.Gln319=
NM_001368143.1:c.550_553delinsCAGG	NP_001355072.1:p.Gln184=
NM_001368144.1:c.550_553delinsCAGG	NP_001355073.1:p.Gln184=
NM_001128590.4:c.865_868delinsCAGG	NP_001122062.3:p.Gln289=
NM_001368143.2:c.550_553delinsCAGG	NP_001355072.1:p.Gln184=
NM_001368144.2:c.550_553delinsCAGG	NP_001355073.1:p.Gln184=