Canonical Allele Identifier: CA2678088759
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039929_32039930del , CM000668.2:g.32039929_32039930del GRCh38
NC_000006.11:g.32007706_32007707del , CM000668.1:g.32007706_32007707del GRCh37
NC_000006.10:g.32115685_32115686del NCBI36
NG_007941.2:g.6622_6623del
NG_008337.2:g.74445_74446del
NG_007941.3:g.6625_6626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.739-76_739-75del MANE Select ENSP00000496625.1:n.739-76_739-75del
ENST00000418967.6:c.739-76_739-75del ENSP00000408860.2:n.739-76_739-75del
ENST00000435122.3:c.649-76_649-75del ENSP00000415043.2:n.649-76_649-75del
ENST00000462278.1:n.521_522del
ENST00000479074.5:n.797-76_797-75del
ENST00000479730.5:n.855-76_855-75del
ENST00000483041.5:n.908-76_908-75del
ENST00000486063.5:n.918+94_918+95del
NM_000500.7:c.739-76_739-75del NP_000491.4:n.739-76_739-75del
NM_001128590.3:c.649-76_649-75del NP_001122062.3:n.649-76_649-75del
XM_011514314.1:c.334-76_334-75del XP_011512616.1:n.334-76_334-75del
NM_000500.9:c.739-76_739-75del MANE Select NP_000491.4:n.739-76_739-75del
NM_001368143.1:c.334-76_334-75del NP_001355072.1:n.334-76_334-75del
NM_001368144.1:c.334-76_334-75del NP_001355073.1:n.334-76_334-75del
NM_001128590.4:c.649-76_649-75del NP_001122062.3:n.649-76_649-75del
NM_001368143.2:c.334-76_334-75del NP_001355072.1:n.334-76_334-75del
NM_001368144.2:c.334-76_334-75del NP_001355073.1:n.334-76_334-75del