Canonical Allele Identifier: CA2578574237
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040863_32040866del , CM000668.2:g.32040863_32040866del GRCh38
NC_000006.11:g.32008640_32008643del , CM000668.1:g.32008640_32008643del GRCh37
NC_000006.10:g.32116619_32116622del NCBI36
NG_007941.2:g.7556_7559del
NG_008337.2:g.73514_73517del
NG_007941.3:g.7559_7562del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1223-6_1223-3del MANE Select ENSP00000496625.1:n.1223-6_1223-3del
ENST00000418967.6:c.1223-6_1223-3del ENSP00000408860.2:n.1223-6_1223-3del
ENST00000435122.3:c.1133-6_1133-3del ENSP00000415043.2:n.1133-6_1133-3del
ENST00000479074.5:n.1364-6_1364-3del
ENST00000479730.5:n.1339-6_1339-3del
ENST00000483041.5:n.1392-6_1392-3del
ENST00000486063.5:n.1202-6_1202-3del
NM_000500.7:c.1223-6_1223-3del NP_000491.4:n.1223-6_1223-3del
NM_001128590.3:c.1133-6_1133-3del NP_001122062.3:n.1133-6_1133-3del
XM_011514314.1:c.818-6_818-3del XP_011512616.1:n.818-6_818-3del
NM_000500.9:c.1223-6_1223-3del MANE Select NP_000491.4:n.1223-6_1223-3del
NM_001368143.1:c.818-6_818-3del NP_001355072.1:n.818-6_818-3del
NM_001368144.1:c.818-6_818-3del NP_001355073.1:n.818-6_818-3del
NM_001128590.4:c.1133-6_1133-3del NP_001122062.3:n.1133-6_1133-3del
NM_001368143.2:c.818-6_818-3del NP_001355072.1:n.818-6_818-3del
NM_001368144.2:c.818-6_818-3del NP_001355073.1:n.818-6_818-3del