Canonical Allele Identifier: CA1619396560

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038827_32038828delinsAT , CM000668.2:g.32038827_32038828delinsAT	GRCh38
NC_000006.11:g.32006604_32006605delinsAT , CM000668.1:g.32006604_32006605delinsAT	GRCh37
NC_000006.10:g.32114583_32114584delinsAT	NCBI36
NG_007941.2:g.5520_5521delinsAT
NG_007941.3:g.5523_5524delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.292+16_292+17delinsAT MANE Select	ENSP00000496625.1:n.292+16_292+17delinsAT
ENST00000418967.6:c.292+16_292+17delinsAT	ENSP00000408860.2:n.292+16_292+17delinsAT
ENST00000435122.3:c.202+203_202+204delinsAT	ENSP00000415043.2:n.202+203_202+204delinsAT
ENST00000464325.5:n.229+16_229+17delinsAT
ENST00000466779.5:c.292+16_292+17delinsAT	ENSP00000417321.1:n.292+16_292+17delinsAT
ENST00000466879.5:n.77_78delinsAT
ENST00000469053.5:c.202+203_202+204delinsAT	ENSP00000418104.1:n.202+203_202+204delinsAT
ENST00000471671.4:c.292+16_292+17delinsAT	ENSP00000418561.1:n.292+16_292+17delinsAT
ENST00000478281.5:c.292+16_292+17delinsAT	ENSP00000419572.1:n.292+16_292+17delinsAT
ENST00000479074.5:n.350+16_350+17delinsAT
ENST00000479730.5:n.447+16_447+17delinsAT
ENST00000480027.1:n.361_362delinsAT
ENST00000483041.5:n.442+16_442+17delinsAT
ENST00000486063.5:n.472+16_472+17delinsAT
ENST00000488465.1:n.300+16_300+17delinsAT
NM_000500.7:c.292+16_292+17delinsAT	NP_000491.4:n.292+16_292+17delinsAT
NM_001128590.3:c.202+203_202+204delinsAT	NP_001122062.3:n.202+203_202+204delinsAT
XM_011514314.1:c.-133+16_-133+17delinsAT	XP_011512616.1:n.-133+16_-133+17delinsAT
NM_000500.9:c.292+16_292+17delinsAT MANE Select	NP_000491.4:n.292+16_292+17delinsAT
NM_001368143.1:c.-133+16_-133+17delinsAT	NP_001355072.1:n.-133+16_-133+17delinsAT
NM_001368144.1:c.-133+203_-133+204delinsAT	NP_001355073.1:n.-133+203_-133+204delinsAT
NM_001128590.4:c.202+203_202+204delinsAT	NP_001122062.3:n.202+203_202+204delinsAT
NM_001368143.2:c.-133+16_-133+17delinsAT	NP_001355072.1:n.-133+16_-133+17delinsAT
NM_001368144.2:c.-133+203_-133+204delinsAT	NP_001355073.1:n.-133+203_-133+204delinsAT