Canonical Allele Identifier: CA1619397312
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040093_32040105delinsAGCTCCTGGAAGG , CM000668.2:g.32040093_32040105delinsAGCTCCTGGAAGG GRCh38
NC_000006.11:g.32007870_32007882delinsAGCTCCTGGAAGG , CM000668.1:g.32007870_32007882delinsAGCTCCTGGAAGG GRCh37
NC_000006.10:g.32115849_32115861delinsAGCTCCTGGAAGG NCBI36
NG_007941.2:g.6786_6798delinsAGCTCCTGGAAGG
NG_008337.2:g.74270_74282delinsCCTTCCAGGAGCT
NG_007941.3:g.6789_6801delinsAGCTCCTGGAAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.827_839delinsAGCTCCTGGAAGG MANE Select ENSP00000496625.1:p.Gln276=
ENST00000418967.6:c.827_839delinsAGCTCCTGGAAGG ENSP00000408860.2:p.Gln276=
ENST00000435122.3:c.737_749delinsAGCTCCTGGAAGG ENSP00000415043.2:p.Gln246=
ENST00000479074.5:n.885_897delinsAGCTCCTGGAAGG
ENST00000479730.5:n.943_955delinsAGCTCCTGGAAGG
ENST00000483041.5:n.996_1008delinsAGCTCCTGGAAGG
ENST00000486063.5:n.918+258_918+270delinsAGCTCCTGGAAGG
NM_000500.7:c.827_839delinsAGCTCCTGGAAGG NP_000491.4:p.Gln276=
NM_001128590.3:c.737_749delinsAGCTCCTGGAAGG NP_001122062.3:p.Gln246=
XM_011514314.1:c.422_434delinsAGCTCCTGGAAGG XP_011512616.1:p.Gln141=
NM_000500.9:c.827_839delinsAGCTCCTGGAAGG MANE Select NP_000491.4:p.Gln276=
NM_001368143.1:c.422_434delinsAGCTCCTGGAAGG NP_001355072.1:p.Gln141=
NM_001368144.1:c.422_434delinsAGCTCCTGGAAGG NP_001355073.1:p.Gln141=
NM_001128590.4:c.737_749delinsAGCTCCTGGAAGG NP_001122062.3:p.Gln246=
NM_001368143.2:c.422_434delinsAGCTCCTGGAAGG NP_001355072.1:p.Gln141=
NM_001368144.2:c.422_434delinsAGCTCCTGGAAGG NP_001355073.1:p.Gln141=