Canonical Allele Identifier: CA2678088738
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039916del , CM000668.2:g.32039916del GRCh38
NC_000006.11:g.32007693del , CM000668.1:g.32007693del GRCh37
NC_000006.10:g.32115672del NCBI36
NG_007941.2:g.6609del
NG_008337.2:g.74459del
NG_007941.3:g.6612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.738+81del MANE Select ENSP00000496625.1:n.738+81del
ENST00000418967.6:c.738+81del ENSP00000408860.2:n.738+81del
ENST00000435122.3:c.648+81del ENSP00000415043.2:n.648+81del
ENST00000462278.1:n.508del
ENST00000479074.5:n.796+81del
ENST00000479730.5:n.854+81del
ENST00000483041.5:n.907+81del
ENST00000486063.5:n.918+81del
NM_000500.7:c.738+81del NP_000491.4:n.738+81del
NM_001128590.3:c.648+81del NP_001122062.3:n.648+81del
XM_011514314.1:c.333+81del XP_011512616.1:n.333+81del
NM_000500.9:c.738+81del MANE Select NP_000491.4:n.738+81del
NM_001368143.1:c.333+81del NP_001355072.1:n.333+81del
NM_001368144.1:c.333+81del NP_001355073.1:n.333+81del
NM_001128590.4:c.648+81del NP_001122062.3:n.648+81del
NM_001368143.2:c.333+81del NP_001355072.1:n.333+81del
NM_001368144.2:c.333+81del NP_001355073.1:n.333+81del