Canonical Allele Identifier: CA1619399401
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040777_32040778delinsTG , CM000668.2:g.32040777_32040778delinsTG GRCh38
NC_000006.11:g.32008554_32008555delinsTG , CM000668.1:g.32008554_32008555delinsTG GRCh37
NC_000006.10:g.32116533_32116534delinsTG NCBI36
NG_007941.2:g.7470_7471delinsTG
NG_008337.2:g.73597_73598delinsCA
NG_007941.3:g.7473_7474delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1222+6_1222+7delinsTG MANE Select ENSP00000496625.1:n.1222+6_1222+7delinsTG...
ENST00000418967.6:c.1222+6_1222+7delinsTG ENSP00000408860.2:n.1222+6_1222+7delinsTG...
ENST00000435122.3:c.1132+6_1132+7delinsTG ENSP00000415043.2:n.1132+6_1132+7delinsTG...
ENST00000479074.5:n.1363+6_1363+7delinsTG
ENST00000479730.5:n.1338+6_1338+7delinsTG
ENST00000483041.5:n.1391+6_1391+7delinsTG
ENST00000486063.5:n.1201+6_1201+7delinsTG
NM_000500.7:c.1222+6_1222+7delinsTG NP_000491.4:n.1222+6_1222+7delinsTG
NM_001128590.3:c.1132+6_1132+7delinsTG NP_001122062.3:n.1132+6_1132+7delinsTG
XM_011514314.1:c.817+6_817+7delinsTG XP_011512616.1:n.817+6_817+7delinsTG
NM_000500.9:c.1222+6_1222+7delinsTG MANE Select NP_000491.4:n.1222+6_1222+7delinsTG
NM_001368143.1:c.817+6_817+7delinsTG NP_001355072.1:n.817+6_817+7delinsTG
NM_001368144.1:c.817+6_817+7delinsTG NP_001355073.1:n.817+6_817+7delinsTG
NM_001128590.4:c.1132+6_1132+7delinsTG NP_001122062.3:n.1132+6_1132+7delinsTG
NM_001368143.2:c.817+6_817+7delinsTG NP_001355072.1:n.817+6_817+7delinsTG
NM_001368144.2:c.817+6_817+7delinsTG NP_001355073.1:n.817+6_817+7delinsTG