Canonical Allele Identifier: CA917713284
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1554304596

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038991del , CM000668.2:g.32038991del GRCh38
NC_000006.11:g.32006768del , CM000668.1:g.32006768del GRCh37
NC_000006.10:g.32114747del NCBI36
NG_007941.2:g.5684del
NG_007941.3:g.5687del

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-103del MANE Select ENSP00000496625.1:n.293-103del
ENST00000418967.6:c.293-103del ENSP00000408860.2:n.293-103del
ENST00000435122.3:c.203-103del ENSP00000415043.2:n.203-103del
ENST00000464325.5:n.230-119del
ENST00000466779.5:c.293-84del ENSP00000417321.1:n.293-84del
ENST00000466879.5:n.241del
ENST00000469053.5:c.203-84del ENSP00000418104.1:n.203-84del
ENST00000471671.4:c.293-103del ENSP00000418561.1:n.293-103del
ENST00000478281.5:c.293-70del ENSP00000419572.1:n.293-70del
ENST00000479074.5:n.351-103del
ENST00000479730.5:n.448-103del
ENST00000480027.1:n.525del
ENST00000483041.5:n.443-84del
ENST00000486063.5:n.473-103del
ENST00000488465.1:n.301-103del
NM_000500.7:c.293-103del NP_000491.4:n.293-103del
NM_001128590.3:c.203-103del NP_001122062.3:n.203-103del
XM_011514314.1:c.-132-84del XP_011512616.1:n.-132-84del
NM_000500.9:c.293-103del MANE Select NP_000491.4:n.293-103del
NM_001368143.1:c.-132-84del NP_001355072.1:n.-132-84del
NM_001368144.1:c.-132-84del NP_001355073.1:n.-132-84del
NM_001128590.4:c.203-103del NP_001122062.3:n.203-103del
NM_001368143.2:c.-132-84del NP_001355072.1:n.-132-84del
NM_001368144.2:c.-132-84del NP_001355073.1:n.-132-84del