Canonical Allele Identifier: CA1619399503
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040927_32040928delinsCG , CM000668.2:g.32040927_32040928delinsCG GRCh38
NC_000006.11:g.32008704_32008705delinsCG , CM000668.1:g.32008704_32008705delinsCG GRCh37
NC_000006.10:g.32116683_32116684delinsCG NCBI36
NG_007941.2:g.7620_7621delinsCG
NG_008337.2:g.73447_73448delinsCG
NG_007941.3:g.7623_7624delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1281_1282delinsCG MANE Select ENSP00000496625.1:p.Arg427=
ENST00000418967.6:c.1281_1282delinsCG ENSP00000408860.2:p.Arg427=
ENST00000435122.3:c.1191_1192delinsCG ENSP00000415043.2:p.Arg397=
ENST00000479074.5:n.1422_1423delinsCG
ENST00000479730.5:n.1397_1398delinsCG
ENST00000483041.5:n.1450_1451delinsCG
ENST00000486063.5:n.1260_1261delinsCG
NM_000500.7:c.1281_1282delinsCG NP_000491.4:p.Arg427=
NM_001128590.3:c.1191_1192delinsCG NP_001122062.3:p.Arg397=
XM_011514314.1:c.876_877delinsCG XP_011512616.1:p.Arg292=
NM_000500.9:c.1281_1282delinsCG MANE Select NP_000491.4:p.Arg427=
NM_001368143.1:c.876_877delinsCG NP_001355072.1:p.Arg292=
NM_001368144.1:c.876_877delinsCG NP_001355073.1:p.Arg292=
NM_001128590.4:c.1191_1192delinsCG NP_001122062.3:p.Arg397=
NM_001368143.2:c.876_877delinsCG NP_001355072.1:p.Arg292=
NM_001368144.2:c.876_877delinsCG NP_001355073.1:p.Arg292=