Canonical Allele Identifier: CA344934
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65611

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040189dup , CM000668.2:g.32040189dup GRCh38
NC_000006.11:g.32007966dup , CM000668.1:g.32007966dup GRCh37
NC_000006.10:g.32115945dup NCBI36
NG_007941.2:g.6882dup
NG_008337.2:g.74192dup
NG_007941.3:g.6885dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.923dup MANE Select ENSP00000496625.1:p.Leu308PhefsTer6
ENST00000418967.6:c.923dup ENSP00000408860.2:p.Leu308PhefsTer6
ENST00000435122.3:c.833dup ENSP00000415043.2:p.Leu278PhefsTer6
ENST00000479074.5:n.981dup
ENST00000479730.5:n.1039dup
ENST00000483041.5:n.1092dup
ENST00000486063.5:n.919-217dup
NM_000500.7:c.923dup NP_000491.4:p.Leu308PhefsTer6
NM_001128590.3:c.833dup NP_001122062.3:p.Leu278PhefsTer6
XM_011514314.1:c.518dup XP_011512616.1:p.Leu173PhefsTer6
NM_000500.9:c.923dup MANE Select NP_000491.4:p.Leu308PhefsTer6
NM_001368143.1:c.518dup NP_001355072.1:p.Leu173PhefsTer6
NM_001368144.1:c.518dup NP_001355073.1:p.Leu173PhefsTer6
NM_001128590.4:c.833dup NP_001122062.3:p.Leu278PhefsTer6
NM_001368143.2:c.518dup NP_001355072.1:p.Leu173PhefsTer6
NM_001368144.2:c.518dup NP_001355073.1:p.Leu173PhefsTer6