Canonical Allele Identifier: CA1619396403
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1775993399

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038529del , CM000668.2:g.32038529del GRCh38
NC_000006.11:g.32006306del , CM000668.1:g.32006306del GRCh37
NC_000006.10:g.32114285del NCBI36
NG_007941.2:g.5222del
NG_007941.3:g.5225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.107del MANE Select ENSP00000496625.1:p.Gly36AlafsTer17
ENST00000418967.6:c.107del ENSP00000408860.2:p.Gly36AlafsTer17
ENST00000435122.3:c.107del ENSP00000415043.2:p.Gly36AlafsTer17
ENST00000466779.5:c.107del ENSP00000417321.1:p.Gly36AlafsTer17
ENST00000469053.5:c.107del ENSP00000418104.1:p.Gly36AlafsTer17
ENST00000471671.4:c.107del ENSP00000418561.1:p.Gly36AlafsTer17
ENST00000478281.5:c.107del ENSP00000419572.1:p.Gly36AlafsTer17
ENST00000479074.5:n.165del
ENST00000479730.5:n.165del
ENST00000480027.1:n.160del
ENST00000483041.5:n.160del
ENST00000486063.5:n.190del
ENST00000488465.1:n.115del
NM_000500.7:c.107del NP_000491.4:p.Gly36AlafsTer17
NM_001128590.3:c.107del NP_001122062.3:p.Gly36AlafsTer17
XM_011514314.1:c.-318del XP_011512616.1:n.-318del
NM_000500.9:c.107del MANE Select NP_000491.4:p.Gly36AlafsTer17
NM_001368143.1:c.-318del NP_001355072.1:n.-318del
NM_001368144.1:c.-228del NP_001355073.1:n.-228del
NM_001128590.4:c.107del NP_001122062.3:p.Gly36AlafsTer17
NM_001368143.2:c.-318del NP_001355072.1:n.-318del
NM_001368144.2:c.-228del NP_001355073.1:n.-228del