Canonical Allele Identifier: CA1619396547
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038819_32038821delinsCCG , CM000668.2:g.32038819_32038821delinsCCG GRCh38
NC_000006.11:g.32006596_32006598delinsCCG , CM000668.1:g.32006596_32006598delinsCCG GRCh37
NC_000006.10:g.32114575_32114577delinsCCG NCBI36
NG_007941.2:g.5512_5514delinsCCG
NG_007941.3:g.5515_5517delinsCCG

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.292+8_292+10delinsCCG MANE Select ENSP00000496625.1:n.292+8_292+10delinsCCG
ENST00000418967.6:c.292+8_292+10delinsCCG ENSP00000408860.2:n.292+8_292+10delinsCCG
ENST00000435122.3:c.202+195_202+197delinsCCG ENSP00000415043.2:n.202+195_202+197delinsCCG
ENST00000464325.5:n.229+8_229+10delinsCCG
ENST00000466779.5:c.292+8_292+10delinsCCG ENSP00000417321.1:n.292+8_292+10delinsCCG
ENST00000466879.5:n.69_71delinsCCG
ENST00000469053.5:c.202+195_202+197delinsCCG ENSP00000418104.1:n.202+195_202+197delinsCCG
ENST00000471671.4:c.292+8_292+10delinsCCG ENSP00000418561.1:n.292+8_292+10delinsCCG
ENST00000478281.5:c.292+8_292+10delinsCCG ENSP00000419572.1:n.292+8_292+10delinsCCG
ENST00000479074.5:n.350+8_350+10delinsCCG
ENST00000479730.5:n.447+8_447+10delinsCCG
ENST00000480027.1:n.353_355delinsCCG
ENST00000483041.5:n.442+8_442+10delinsCCG
ENST00000486063.5:n.472+8_472+10delinsCCG
ENST00000488465.1:n.300+8_300+10delinsCCG
NM_000500.7:c.292+8_292+10delinsCCG NP_000491.4:n.292+8_292+10delinsCCG
NM_001128590.3:c.202+195_202+197delinsCCG NP_001122062.3:n.202+195_202+197delinsCCG
XM_011514314.1:c.-133+8_-133+10delinsCCG XP_011512616.1:n.-133+8_-133+10delinsCCG
NM_000500.9:c.292+8_292+10delinsCCG MANE Select NP_000491.4:n.292+8_292+10delinsCCG
NM_001368143.1:c.-133+8_-133+10delinsCCG NP_001355072.1:n.-133+8_-133+10delinsCCG
NM_001368144.1:c.-133+195_-133+197delinsCCG NP_001355073.1:n.-133+195_-133+197delinsCCG
NM_001128590.4:c.202+195_202+197delinsCCG NP_001122062.3:n.202+195_202+197delinsCCG
NM_001368143.2:c.-133+8_-133+10delinsCCG NP_001355072.1:n.-133+8_-133+10delinsCCG
NM_001368144.2:c.-133+195_-133+197delinsCCG NP_001355073.1:n.-133+195_-133+197delinsCCG