Canonical Allele Identifier: CA1619397387
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040236_32040237delinsTC , CM000668.2:g.32040236_32040237delinsTC GRCh38
NC_000006.11:g.32008013_32008014delinsTC , CM000668.1:g.32008013_32008014delinsTC GRCh37
NC_000006.10:g.32115992_32115993delinsTC NCBI36
NG_007941.2:g.6929_6930delinsTC
NG_008337.2:g.74138_74139delinsGA
NG_007941.3:g.6932_6933delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.939+31_939+32delinsTC MANE Select ENSP00000496625.1:n.939+31_939+32delinsTC
ENST00000418967.6:c.939+31_939+32delinsTC ENSP00000408860.2:n.939+31_939+32delinsTC
ENST00000435122.3:c.849+31_849+32delinsTC ENSP00000415043.2:n.849+31_849+32delinsTC
ENST00000479074.5:n.997+31_997+32delinsTC
ENST00000479730.5:n.1055+31_1055+32delinsTC
ENST00000483041.5:n.1108+31_1108+32delinsTC
ENST00000486063.5:n.919-170_919-169delinsTC
NM_000500.7:c.939+31_939+32delinsTC NP_000491.4:n.939+31_939+32delinsTC
NM_001128590.3:c.849+31_849+32delinsTC NP_001122062.3:n.849+31_849+32delinsTC
XM_011514314.1:c.534+31_534+32delinsTC XP_011512616.1:n.534+31_534+32delinsTC
NM_000500.9:c.939+31_939+32delinsTC MANE Select NP_000491.4:n.939+31_939+32delinsTC
NM_001368143.1:c.534+31_534+32delinsTC NP_001355072.1:n.534+31_534+32delinsTC
NM_001368144.1:c.534+31_534+32delinsTC NP_001355073.1:n.534+31_534+32delinsTC
NM_001128590.4:c.849+31_849+32delinsTC NP_001122062.3:n.849+31_849+32delinsTC
NM_001368143.2:c.534+31_534+32delinsTC NP_001355072.1:n.534+31_534+32delinsTC
NM_001368144.2:c.534+31_534+32delinsTC NP_001355073.1:n.534+31_534+32delinsTC