Canonical Allele Identifier: CA1619399795
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32041139_32041140delinsGC , CM000668.2:g.32041139_32041140delinsGC GRCh38
NC_000006.11:g.32008916_32008917delinsGC , CM000668.1:g.32008916_32008917delinsGC GRCh37
NC_000006.10:g.32116895_32116896delinsGC NCBI36
NG_007941.2:g.7832_7833delinsGC
NG_008337.2:g.73235_73236delinsGC
NG_007941.3:g.7835_7836delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.*5_*6delinsGC MANE Select ENSP00000496625.1:n.*5_*6delinsGC
ENST00000418967.6:c.*5_*6delinsGC ENSP00000408860.2:n.*5_*6delinsGC
ENST00000435122.3:c.*5_*6delinsGC ENSP00000415043.2:n.*5_*6delinsGC
ENST00000479074.5:n.1634_1635delinsGC
ENST00000479730.5:n.1609_1610delinsGC
ENST00000483041.5:n.1662_1663delinsGC
ENST00000486063.5:n.1472_1473delinsGC
NM_000500.7:c.*5_*6delinsGC NP_000491.4:n.*5_*6delinsGC
NM_001128590.3:c.*5_*6delinsGC NP_001122062.3:n.*5_*6delinsGC
XM_011514314.1:c.*5_*6delinsGC XP_011512616.1:n.*5_*6delinsGC
NM_000500.9:c.*5_*6delinsGC MANE Select NP_000491.4:n.*5_*6delinsGC
NM_001368143.1:c.*5_*6delinsGC NP_001355072.1:n.*5_*6delinsGC
NM_001368144.1:c.*5_*6delinsGC NP_001355073.1:n.*5_*6delinsGC
NM_001128590.4:c.*5_*6delinsGC NP_001122062.3:n.*5_*6delinsGC
NM_001368143.2:c.*5_*6delinsGC NP_001355072.1:n.*5_*6delinsGC
NM_001368144.2:c.*5_*6delinsGC NP_001355073.1:n.*5_*6delinsGC