Canonical Allele Identifier: CA2678088447
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038856_32038857insTTGT , CM000668.2:g.32038856_32038857insTTGT GRCh38
NC_000006.11:g.32006633_32006634insTTGT , CM000668.1:g.32006633_32006634insTTGT GRCh37
NC_000006.10:g.32114612_32114613insTTGT NCBI36
NG_007941.2:g.5549_5550insTTGT
NG_007941.3:g.5552_5553insTTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.292+45_292+46insTTGT MANE Select ENSP00000496625.1:n.292+45_292+46insTTGT
ENST00000418967.6:c.292+45_292+46insTTGT ENSP00000408860.2:n.292+45_292+46insTTGT
ENST00000435122.3:c.202+232_202+233insTTGT ENSP00000415043.2:n.202+232_202+233insTTGT
ENST00000464325.5:n.229+45_229+46insTTGT
ENST00000466779.5:c.292+45_292+46insTTGT ENSP00000417321.1:n.292+45_292+46insTTGT
ENST00000466879.5:n.106_107insTTGT
ENST00000469053.5:c.203-219_203-218insTTGT ENSP00000418104.1:n.203-219_203-218insTTGT
ENST00000471671.4:c.292+45_292+46insTTGT ENSP00000418561.1:n.292+45_292+46insTTGT
ENST00000478281.5:c.292+45_292+46insTTGT ENSP00000419572.1:n.292+45_292+46insTTGT
ENST00000479074.5:n.350+45_350+46insTTGT
ENST00000479730.5:n.447+45_447+46insTTGT
ENST00000480027.1:n.390_391insTTGT
ENST00000483041.5:n.442+45_442+46insTTGT
ENST00000486063.5:n.472+45_472+46insTTGT
ENST00000488465.1:n.300+45_300+46insTTGT
NM_000500.7:c.292+45_292+46insTTGT NP_000491.4:n.292+45_292+46insTTGT
NM_001128590.3:c.202+232_202+233insTTGT NP_001122062.3:n.202+232_202+233insTTGT
XM_011514314.1:c.-133+45_-133+46insTTGT XP_011512616.1:n.-133+45_-133+46insTTGT
NM_000500.9:c.292+45_292+46insTTGT MANE Select NP_000491.4:n.292+45_292+46insTTGT
NM_001368143.1:c.-133+45_-133+46insTTGT NP_001355072.1:n.-133+45_-133+46insTTGT
NM_001368144.1:c.-132-219_-132-218insTTGT NP_001355073.1:n.-132-219_-132-218insTTGT
NM_001128590.4:c.202+232_202+233insTTGT NP_001122062.3:n.202+232_202+233insTTGT
NM_001368143.2:c.-133+45_-133+46insTTGT NP_001355072.1:n.-133+45_-133+46insTTGT
NM_001368144.2:c.-132-219_-132-218insTTGT NP_001355073.1:n.-132-219_-132-218insTTGT