Canonical Allele Identifier: CA1619397226
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039907_32039975delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC , CM000668.2:g.32039907_32039975delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC GRCh38
NC_000006.11:g.32007684_32007752delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC , CM000668.1:g.32007684_32007752delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC GRCh37
NC_000006.10:g.32115663_32115731delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC NCBI36
NG_007941.2:g.6600_6668delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC
NG_008337.2:g.74400_74468delinsGGCTGGCCTGGGGAGAGGAGTACAGAGTGGCAACAGGCCCATAACTGGGGTATGCAAAAGAACCCGCCT
NG_007941.3:g.6603_6671delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.738+72_739-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC MANE Select ENSP00000496625.1:n.738+72_739-30delinsAGGCGGGTTCTTTTGCATACCC...
ENST00000418967.6:c.738+72_739-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC ENSP00000408860.2:n.738+72_739-30delinsAGGCGGGTTCTTTTGCATACCC...
ENST00000435122.3:c.648+72_649-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC ENSP00000415043.2:n.648+72_649-30delinsAGGCGGGTTCTTTTGCATACCC...
ENST00000479074.5:n.796+72_797-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC
ENST00000479730.5:n.854+72_855-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC
ENST00000483041.5:n.907+72_908-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC
ENST00000486063.5:n.918+72_918+140delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC
NM_000500.7:c.738+72_739-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC NP_000491.4:n.738+72_739-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTA...
NM_001128590.3:c.648+72_649-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC NP_001122062.3:n.648+72_649-30delinsAGGCGGGTTCTTTTGCATACCCCAG...
XM_011514314.1:c.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC XP_011512616.1:n.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAG...
NM_000500.9:c.738+72_739-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC MANE Select NP_000491.4:n.738+72_739-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTA...
NM_001368143.1:c.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC NP_001355072.1:n.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAG...
NM_001368144.1:c.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC NP_001355073.1:n.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAG...
NM_001128590.4:c.648+72_649-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC NP_001122062.3:n.648+72_649-30delinsAGGCGGGTTCTTTTGCATACCCCAG...
NM_001368143.2:c.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC NP_001355072.1:n.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAG...
NM_001368144.2:c.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAGTTATGGGCCTGTTGCCACTCTGTACTCCTCTCCCCAGGCCAGCC NP_001355073.1:n.333+72_334-30delinsAGGCGGGTTCTTTTGCATACCCCAG...