Canonical Allele Identifier: CA2678089821
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040786_32040792del , CM000668.2:g.32040786_32040792del GRCh38
NC_000006.11:g.32008563_32008569del , CM000668.1:g.32008563_32008569del GRCh37
NC_000006.10:g.32116542_32116548del NCBI36
NG_007941.2:g.7479_7485del
NG_008337.2:g.73590_73596del
NG_007941.3:g.7482_7488del

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1222+15_1222+21del MANE Select ENSP00000496625.1:n.1222+15_1222+21del
ENST00000418967.6:c.1222+15_1222+21del ENSP00000408860.2:n.1222+15_1222+21del
ENST00000435122.3:c.1132+15_1132+21del ENSP00000415043.2:n.1132+15_1132+21del
ENST00000479074.5:n.1363+15_1363+21del
ENST00000479730.5:n.1338+15_1338+21del
ENST00000483041.5:n.1391+15_1391+21del
ENST00000486063.5:n.1201+15_1201+21del
NM_000500.7:c.1222+15_1222+21del NP_000491.4:n.1222+15_1222+21del
NM_001128590.3:c.1132+15_1132+21del NP_001122062.3:n.1132+15_1132+21del
XM_011514314.1:c.817+15_817+21del XP_011512616.1:n.817+15_817+21del
NM_000500.9:c.1222+15_1222+21del MANE Select NP_000491.4:n.1222+15_1222+21del
NM_001368143.1:c.817+15_817+21del NP_001355072.1:n.817+15_817+21del
NM_001368144.1:c.817+15_817+21del NP_001355073.1:n.817+15_817+21del
NM_001128590.4:c.1132+15_1132+21del NP_001122062.3:n.1132+15_1132+21del
NM_001368143.2:c.817+15_817+21del NP_001355072.1:n.817+15_817+21del
NM_001368144.2:c.817+15_817+21del NP_001355073.1:n.817+15_817+21del