Canonical Allele Identifier: CA1619396562

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038830_32038834delinsTTTTC , CM000668.2:g.32038830_32038834delinsTTTTC	GRCh38
NC_000006.11:g.32006607_32006611delinsTTTTC , CM000668.1:g.32006607_32006611delinsTTTTC	GRCh37
NC_000006.10:g.32114586_32114590delinsTTTTC	NCBI36
NG_007941.2:g.5523_5527delinsTTTTC
NG_007941.3:g.5526_5530delinsTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+19_292+23delinsTTTTC MANE Select	ENSP00000496625.1:n.292+19_292+23delinsTTTTC
ENST00000418967.6:c.292+19_292+23delinsTTTTC	ENSP00000408860.2:n.292+19_292+23delinsTTTTC
ENST00000435122.3:c.202+206_202+210delinsTTTTC	ENSP00000415043.2:n.202+206_202+210delinsTTTTC
ENST00000464325.5:n.229+19_229+23delinsTTTTC
ENST00000466779.5:c.292+19_292+23delinsTTTTC	ENSP00000417321.1:n.292+19_292+23delinsTTTTC
ENST00000466879.5:n.80_84delinsTTTTC
ENST00000469053.5:c.202+206_202+210delinsTTTTC	ENSP00000418104.1:n.202+206_202+210delinsTTTTC
ENST00000471671.4:c.292+19_292+23delinsTTTTC	ENSP00000418561.1:n.292+19_292+23delinsTTTTC
ENST00000478281.5:c.292+19_292+23delinsTTTTC	ENSP00000419572.1:n.292+19_292+23delinsTTTTC
ENST00000479074.5:n.350+19_350+23delinsTTTTC
ENST00000479730.5:n.447+19_447+23delinsTTTTC
ENST00000480027.1:n.364_368delinsTTTTC
ENST00000483041.5:n.442+19_442+23delinsTTTTC
ENST00000486063.5:n.472+19_472+23delinsTTTTC
ENST00000488465.1:n.300+19_300+23delinsTTTTC
NM_000500.7:c.292+19_292+23delinsTTTTC	NP_000491.4:n.292+19_292+23delinsTTTTC
NM_001128590.3:c.202+206_202+210delinsTTTTC	NP_001122062.3:n.202+206_202+210delinsTTTTC
XM_011514314.1:c.-133+19_-133+23delinsTTTTC	XP_011512616.1:n.-133+19_-133+23delinsTTTTC
NM_000500.9:c.292+19_292+23delinsTTTTC MANE Select	NP_000491.4:n.292+19_292+23delinsTTTTC
NM_001368143.1:c.-133+19_-133+23delinsTTTTC	NP_001355072.1:n.-133+19_-133+23delinsTTTTC
NM_001368144.1:c.-133+206_-133+210delinsTTTTC	NP_001355073.1:n.-133+206_-133+210delinsTTTTC
NM_001128590.4:c.202+206_202+210delinsTTTTC	NP_001122062.3:n.202+206_202+210delinsTTTTC
NM_001368143.2:c.-133+19_-133+23delinsTTTTC	NP_001355072.1:n.-133+19_-133+23delinsTTTTC
NM_001368144.2:c.-133+206_-133+210delinsTTTTC	NP_001355073.1:n.-133+206_-133+210delinsTTTTC