Canonical Allele Identifier: CA1619399460
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040848_32040852delinsCACCT , CM000668.2:g.32040848_32040852delinsCACCT GRCh38
NC_000006.11:g.32008625_32008629delinsCACCT , CM000668.1:g.32008625_32008629delinsCACCT GRCh37
NC_000006.10:g.32116604_32116608delinsCACCT NCBI36
NG_007941.2:g.7541_7545delinsCACCT
NG_008337.2:g.73523_73527delinsAGGTG
NG_007941.3:g.7544_7548delinsCACCT

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1223-21_1223-17delinsCACCT MANE Select ENSP00000496625.1:n.1223-21_1223-17delins...
ENST00000418967.6:c.1223-21_1223-17delinsCACCT ENSP00000408860.2:n.1223-21_1223-17delins...
ENST00000435122.3:c.1133-21_1133-17delinsCACCT ENSP00000415043.2:n.1133-21_1133-17delins...
ENST00000479074.5:n.1364-21_1364-17delinsCACCT
ENST00000479730.5:n.1339-21_1339-17delinsCACCT
ENST00000483041.5:n.1392-21_1392-17delinsCACCT
ENST00000486063.5:n.1202-21_1202-17delinsCACCT
NM_000500.7:c.1223-21_1223-17delinsCACCT NP_000491.4:n.1223-21_1223-17delinsCACCT
NM_001128590.3:c.1133-21_1133-17delinsCACCT NP_001122062.3:n.1133-21_1133-17delinsCAC...
XM_011514314.1:c.818-21_818-17delinsCACCT XP_011512616.1:n.818-21_818-17delinsCACCT...
NM_000500.9:c.1223-21_1223-17delinsCACCT MANE Select NP_000491.4:n.1223-21_1223-17delinsCACCT
NM_001368143.1:c.818-21_818-17delinsCACCT NP_001355072.1:n.818-21_818-17delinsCACCT...
NM_001368144.1:c.818-21_818-17delinsCACCT NP_001355073.1:n.818-21_818-17delinsCACCT...
NM_001128590.4:c.1133-21_1133-17delinsCACCT NP_001122062.3:n.1133-21_1133-17delinsCAC...
NM_001368143.2:c.818-21_818-17delinsCACCT NP_001355072.1:n.818-21_818-17delinsCACCT...
NM_001368144.2:c.818-21_818-17delinsCACCT NP_001355073.1:n.818-21_818-17delinsCACCT...