Canonical Allele Identifier: CA1619397223
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039902_32039904delinsCTA , CM000668.2:g.32039902_32039904delinsCTA GRCh38
NC_000006.11:g.32007679_32007681delinsCTA , CM000668.1:g.32007679_32007681delinsCTA GRCh37
NC_000006.10:g.32115658_32115660delinsCTA NCBI36
NG_007941.2:g.6595_6597delinsCTA
NG_008337.2:g.74471_74473delinsTAG
NG_007941.3:g.6598_6600delinsCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.738+67_738+69delinsCTA MANE Select ENSP00000496625.1:n.738+67_738+69delinsCTA
ENST00000418967.6:c.738+67_738+69delinsCTA ENSP00000408860.2:n.738+67_738+69delinsCTA
ENST00000435122.3:c.648+67_648+69delinsCTA ENSP00000415043.2:n.648+67_648+69delinsCTA
ENST00000462278.1:n.494_496delinsCTA
ENST00000479074.5:n.796+67_796+69delinsCTA
ENST00000479730.5:n.854+67_854+69delinsCTA
ENST00000483041.5:n.907+67_907+69delinsCTA
ENST00000486063.5:n.918+67_918+69delinsCTA
NM_000500.7:c.738+67_738+69delinsCTA NP_000491.4:n.738+67_738+69delinsCTA
NM_001128590.3:c.648+67_648+69delinsCTA NP_001122062.3:n.648+67_648+69delinsCTA
XM_011514314.1:c.333+67_333+69delinsCTA XP_011512616.1:n.333+67_333+69delinsCTA
NM_000500.9:c.738+67_738+69delinsCTA MANE Select NP_000491.4:n.738+67_738+69delinsCTA
NM_001368143.1:c.333+67_333+69delinsCTA NP_001355072.1:n.333+67_333+69delinsCTA
NM_001368144.1:c.333+67_333+69delinsCTA NP_001355073.1:n.333+67_333+69delinsCTA
NM_001128590.4:c.648+67_648+69delinsCTA NP_001122062.3:n.648+67_648+69delinsCTA
NM_001368143.2:c.333+67_333+69delinsCTA NP_001355072.1:n.333+67_333+69delinsCTA
NM_001368144.2:c.333+67_333+69delinsCTA NP_001355073.1:n.333+67_333+69delinsCTA