Canonical Allele Identifier: CA1619397380
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040224_32040225delinsCA , CM000668.2:g.32040224_32040225delinsCA GRCh38
NC_000006.11:g.32008001_32008002delinsCA , CM000668.1:g.32008001_32008002delinsCA GRCh37
NC_000006.10:g.32115980_32115981delinsCA NCBI36
NG_007941.2:g.6917_6918delinsCA
NG_008337.2:g.74150_74151delinsTG
NG_007941.3:g.6920_6921delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.939+19_939+20delinsCA MANE Select ENSP00000496625.1:n.939+19_939+20delinsCA
ENST00000418967.6:c.939+19_939+20delinsCA ENSP00000408860.2:n.939+19_939+20delinsCA
ENST00000435122.3:c.849+19_849+20delinsCA ENSP00000415043.2:n.849+19_849+20delinsCA
ENST00000479074.5:n.997+19_997+20delinsCA
ENST00000479730.5:n.1055+19_1055+20delinsCA
ENST00000483041.5:n.1108+19_1108+20delinsCA
ENST00000486063.5:n.919-182_919-181delinsCA
NM_000500.7:c.939+19_939+20delinsCA NP_000491.4:n.939+19_939+20delinsCA
NM_001128590.3:c.849+19_849+20delinsCA NP_001122062.3:n.849+19_849+20delinsCA
XM_011514314.1:c.534+19_534+20delinsCA XP_011512616.1:n.534+19_534+20delinsCA
NM_000500.9:c.939+19_939+20delinsCA MANE Select NP_000491.4:n.939+19_939+20delinsCA
NM_001368143.1:c.534+19_534+20delinsCA NP_001355072.1:n.534+19_534+20delinsCA
NM_001368144.1:c.534+19_534+20delinsCA NP_001355073.1:n.534+19_534+20delinsCA
NM_001128590.4:c.849+19_849+20delinsCA NP_001122062.3:n.849+19_849+20delinsCA
NM_001368143.2:c.534+19_534+20delinsCA NP_001355072.1:n.534+19_534+20delinsCA
NM_001368144.2:c.534+19_534+20delinsCA NP_001355073.1:n.534+19_534+20delinsCA