Canonical Allele Identifier: CA2678089876
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040803del , CM000668.2:g.32040803del GRCh38
NC_000006.11:g.32008580del , CM000668.1:g.32008580del GRCh37
NC_000006.10:g.32116559del NCBI36
NG_007941.2:g.7496del
NG_008337.2:g.73575del
NG_007941.3:g.7499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1222+32del MANE Select ENSP00000496625.1:n.1222+32del
ENST00000418967.6:c.1222+32del ENSP00000408860.2:n.1222+32del
ENST00000435122.3:c.1132+32del ENSP00000415043.2:n.1132+32del
ENST00000479074.5:n.1363+32del
ENST00000479730.5:n.1338+32del
ENST00000483041.5:n.1391+32del
ENST00000486063.5:n.1201+32del
NM_000500.7:c.1222+32del NP_000491.4:n.1222+32del
NM_001128590.3:c.1132+32del NP_001122062.3:n.1132+32del
XM_011514314.1:c.817+32del XP_011512616.1:n.817+32del
NM_000500.9:c.1222+32del MANE Select NP_000491.4:n.1222+32del
NM_001368143.1:c.817+32del NP_001355072.1:n.817+32del
NM_001368144.1:c.817+32del NP_001355073.1:n.817+32del
NM_001128590.4:c.1132+32del NP_001122062.3:n.1132+32del
NM_001368143.2:c.817+32del NP_001355072.1:n.817+32del
NM_001368144.2:c.817+32del NP_001355073.1:n.817+32del