Canonical Allele Identifier: CA2678088234
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038369del , CM000668.2:g.32038369del GRCh38
NC_000006.11:g.32006146del , CM000668.1:g.32006146del GRCh37
NC_000006.10:g.32114125del NCBI36
NG_007941.2:g.5065del
NG_007941.3:g.5065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000418967.6:c.-54del ENSP00000408860.2:n.-54del
ENST00000466779.5:c.-54del ENSP00000417321.1:n.-54del
ENST00000479074.5:n.5del
ENST00000479730.5:n.5del
ENST00000486063.5:n.30del
NM_000500.7:c.-54del NP_000491.4:n.-54del
NM_001128590.3:c.-54del NP_001122062.3:n.-54del
NM_001368143.1:c.-478del NP_001355072.1:n.-478del
NM_001368144.1:c.-388del NP_001355073.1:n.-388del