Canonical Allele Identifier: CA2695206186
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040919_32040923del , CM000668.2:g.32040919_32040923del GRCh38
NC_000006.11:g.32008696_32008700del , CM000668.1:g.32008696_32008700del GRCh37
NC_000006.10:g.32116675_32116679del NCBI36
NG_007941.2:g.7612_7616del
NG_008337.2:g.73455_73459del
NG_007941.3:g.7615_7619del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1273_1277del MANE Select ENSP00000496625.1:p.Gly425ProfsTer?
ENST00000418967.6:c.1273_1277del ENSP00000408860.2:p.Gly425ProfsTer?
ENST00000435122.3:c.1183_1187del ENSP00000415043.2:p.Gly395ProfsTer?
ENST00000479074.5:n.1414_1418del
ENST00000479730.5:n.1389_1393del
ENST00000483041.5:n.1442_1446del
ENST00000486063.5:n.1252_1256del
NM_000500.7:c.1273_1277del NP_000491.4:p.Gly425ProfsTer?
NM_001128590.3:c.1183_1187del NP_001122062.3:p.Gly395ProfsTer?
XM_011514314.1:c.868_872del XP_011512616.1:p.Gly290ProfsTer?
NM_000500.9:c.1273_1277del MANE Select NP_000491.4:p.Gly425ProfsTer?
NM_001368143.1:c.868_872del NP_001355072.1:p.Gly290ProfsTer?
NM_001368144.1:c.868_872del NP_001355073.1:p.Gly290ProfsTer?
NM_001128590.4:c.1183_1187del NP_001122062.3:p.Gly395ProfsTer?
NM_001368143.2:c.868_872del NP_001355072.1:p.Gly290ProfsTer?
NM_001368144.2:c.868_872del NP_001355073.1:p.Gly290ProfsTer?