Canonical Allele Identifier: CA449818414
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038459_32038460insG , CM000668.2:g.32038459_32038460insG GRCh38
NC_000006.11:g.32006236_32006237insG , CM000668.1:g.32006236_32006237insG GRCh37
NC_000006.10:g.32114215_32114216insG NCBI36
NG_007941.2:g.5152_5153insG
NG_007941.3:g.5155_5156insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.37_38insG MANE Select ENSP00000496625.1:p.Leu13ArgfsTer?
ENST00000418967.6:c.37_38insG ENSP00000408860.2:p.Leu13ArgfsTer?
ENST00000435122.3:c.37_38insG ENSP00000415043.2:p.Leu13ArgfsTer?
ENST00000466779.5:c.37_38insG ENSP00000417321.1:p.Leu13ArgfsTer?
ENST00000469053.5:c.37_38insG ENSP00000418104.1:p.Leu13ArgfsTer?
ENST00000471671.4:c.37_38insG ENSP00000418561.1:p.Leu13ArgfsTer?
ENST00000478281.5:c.37_38insG ENSP00000419572.1:p.Leu13ArgfsTer?
ENST00000479074.5:n.95_96insG
ENST00000479730.5:n.95_96insG
ENST00000480027.1:n.90_91insG
ENST00000483041.5:n.90_91insG
ENST00000486063.5:n.120_121insG
ENST00000488465.1:n.45_46insG
NM_000500.7:c.37_38insG NP_000491.4:p.Leu13ArgfsTer?
NM_001128590.3:c.37_38insG NP_001122062.3:p.Leu13ArgfsTer?
XM_011514314.1:c.-388_-387insG XP_011512616.1:n.-388_-387insG
NM_000500.9:c.37_38insG MANE Select NP_000491.4:p.Leu13ArgfsTer?
NM_001368143.1:c.-388_-387insG NP_001355072.1:n.-388_-387insG
NM_001368144.1:c.-298_-297insG NP_001355073.1:n.-298_-297insG
NM_001128590.4:c.37_38insG NP_001122062.3:p.Leu13ArgfsTer?
NM_001368143.2:c.-388_-387insG NP_001355072.1:n.-388_-387insG
NM_001368144.2:c.-298_-297insG NP_001355073.1:n.-298_-297insG