Canonical Allele Identifier: CA2678088427

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038834-C-CTTTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038836_32038840dup , CM000668.2:g.32038836_32038840dup	GRCh38
NC_000006.11:g.32006613_32006617dup , CM000668.1:g.32006613_32006617dup	GRCh37
NC_000006.10:g.32114592_32114596dup	NCBI36
NG_007941.2:g.5529_5533dup
NG_007941.3:g.5532_5536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+25_292+29dup MANE Select	ENSP00000496625.1:n.292+25_292+29dup
ENST00000418967.6:c.292+25_292+29dup	ENSP00000408860.2:n.292+25_292+29dup
ENST00000435122.3:c.202+212_202+216dup	ENSP00000415043.2:n.202+212_202+216dup
ENST00000464325.5:n.229+25_229+29dup
ENST00000466779.5:c.292+25_292+29dup	ENSP00000417321.1:n.292+25_292+29dup
ENST00000466879.5:n.86_90dup
ENST00000469053.5:c.202+212_202+216dup	ENSP00000418104.1:n.202+212_202+216dup
ENST00000471671.4:c.292+25_292+29dup	ENSP00000418561.1:n.292+25_292+29dup
ENST00000478281.5:c.292+25_292+29dup	ENSP00000419572.1:n.292+25_292+29dup
ENST00000479074.5:n.350+25_350+29dup
ENST00000479730.5:n.447+25_447+29dup
ENST00000480027.1:n.370_374dup
ENST00000483041.5:n.442+25_442+29dup
ENST00000486063.5:n.472+25_472+29dup
ENST00000488465.1:n.300+25_300+29dup
NM_000500.7:c.292+25_292+29dup	NP_000491.4:n.292+25_292+29dup
NM_001128590.3:c.202+212_202+216dup	NP_001122062.3:n.202+212_202+216dup
XM_011514314.1:c.-133+25_-133+29dup	XP_011512616.1:n.-133+25_-133+29dup
NM_000500.9:c.292+25_292+29dup MANE Select	NP_000491.4:n.292+25_292+29dup
NM_001368143.1:c.-133+25_-133+29dup	NP_001355072.1:n.-133+25_-133+29dup
NM_001368144.1:c.-133+212_-133+216dup	NP_001355073.1:n.-133+212_-133+216dup
NM_001128590.4:c.202+212_202+216dup	NP_001122062.3:n.202+212_202+216dup
NM_001368143.2:c.-133+25_-133+29dup	NP_001355072.1:n.-133+25_-133+29dup
NM_001368144.2:c.-133+212_-133+216dup	NP_001355073.1:n.-133+212_-133+216dup