Canonical Allele Identifier: CA1619397382
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040228_32040229delinsAG , CM000668.2:g.32040228_32040229delinsAG GRCh38
NC_000006.11:g.32008005_32008006delinsAG , CM000668.1:g.32008005_32008006delinsAG GRCh37
NC_000006.10:g.32115984_32115985delinsAG NCBI36
NG_007941.2:g.6921_6922delinsAG
NG_008337.2:g.74146_74147delinsCT
NG_007941.3:g.6924_6925delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.939+23_939+24delinsAG MANE Select ENSP00000496625.1:n.939+23_939+24delinsAG
ENST00000418967.6:c.939+23_939+24delinsAG ENSP00000408860.2:n.939+23_939+24delinsAG
ENST00000435122.3:c.849+23_849+24delinsAG ENSP00000415043.2:n.849+23_849+24delinsAG
ENST00000479074.5:n.997+23_997+24delinsAG
ENST00000479730.5:n.1055+23_1055+24delinsAG
ENST00000483041.5:n.1108+23_1108+24delinsAG
ENST00000486063.5:n.919-178_919-177delinsAG
NM_000500.7:c.939+23_939+24delinsAG NP_000491.4:n.939+23_939+24delinsAG
NM_001128590.3:c.849+23_849+24delinsAG NP_001122062.3:n.849+23_849+24delinsAG
XM_011514314.1:c.534+23_534+24delinsAG XP_011512616.1:n.534+23_534+24delinsAG
NM_000500.9:c.939+23_939+24delinsAG MANE Select NP_000491.4:n.939+23_939+24delinsAG
NM_001368143.1:c.534+23_534+24delinsAG NP_001355072.1:n.534+23_534+24delinsAG
NM_001368144.1:c.534+23_534+24delinsAG NP_001355073.1:n.534+23_534+24delinsAG
NM_001128590.4:c.849+23_849+24delinsAG NP_001122062.3:n.849+23_849+24delinsAG
NM_001368143.2:c.534+23_534+24delinsAG NP_001355072.1:n.534+23_534+24delinsAG
NM_001368144.2:c.534+23_534+24delinsAG NP_001355073.1:n.534+23_534+24delinsAG