Canonical Allele Identifier: CA2695206156
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038784_32038796dup , CM000668.2:g.32038784_32038796dup GRCh38
NC_000006.11:g.32006561_32006573dup , CM000668.1:g.32006561_32006573dup GRCh37
NC_000006.10:g.32114540_32114552dup NCBI36
NG_007941.2:g.5477_5489dup
NG_007941.3:g.5480_5492dup

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.265_277dup MANE Select ENSP00000496625.1:p.Pro93LeufsTer6
ENST00000418967.6:c.265_277dup ENSP00000408860.2:p.Pro93LeufsTer6
ENST00000435122.3:c.202+160_202+172dup ENSP00000415043.2:n.202+160_202+172dup
ENST00000464325.5:n.202_214dup
ENST00000466779.5:c.265_277dup ENSP00000417321.1:p.Pro93LeufsTer6
ENST00000466879.5:n.34_46dup
ENST00000469053.5:c.202+160_202+172dup ENSP00000418104.1:n.202+160_202+172dup
ENST00000471671.4:c.265_277dup ENSP00000418561.1:p.Pro93LeufsTer6
ENST00000478281.5:c.265_277dup ENSP00000419572.1:p.Pro93LeufsTer6
ENST00000479074.5:n.323_335dup
ENST00000479730.5:n.420_432dup
ENST00000480027.1:n.318_330dup
ENST00000483041.5:n.415_427dup
ENST00000486063.5:n.445_457dup
ENST00000488465.1:n.273_285dup
NM_000500.7:c.265_277dup NP_000491.4:p.Pro93LeufsTer6
NM_001128590.3:c.202+160_202+172dup NP_001122062.3:n.202+160_202+172dup
XM_011514314.1:c.-160_-148dup XP_011512616.1:n.-160_-148dup
NM_000500.9:c.265_277dup MANE Select NP_000491.4:p.Pro93LeufsTer6
NM_001368143.1:c.-160_-148dup NP_001355072.1:n.-160_-148dup
NM_001368144.1:c.-133+160_-133+172dup NP_001355073.1:n.-133+160_-133+172dup
NM_001128590.4:c.202+160_202+172dup NP_001122062.3:n.202+160_202+172dup
NM_001368143.2:c.-160_-148dup NP_001355072.1:n.-160_-148dup
NM_001368144.2:c.-133+160_-133+172dup NP_001355073.1:n.-133+160_-133+172dup