Canonical Allele Identifier: CA2678089012

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039122-C-CCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039124_32039127dup , CM000668.2:g.32039124_32039127dup	GRCh38
NC_000006.11:g.32006901_32006904dup , CM000668.1:g.32006901_32006904dup	GRCh37
NC_000006.10:g.32114880_32114883dup	NCBI36
NG_007941.2:g.5817_5820dup
NG_007941.3:g.5820_5823dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.323_326dup MANE Select	ENSP00000496625.1:p.Leu110ValfsTer26
ENST00000418967.6:c.323_326dup	ENSP00000408860.2:p.Leu110ValfsTer26
ENST00000435122.3:c.233_236dup	ENSP00000415043.2:p.Leu80ValfsTer26
ENST00000464325.5:n.244_247dup
ENST00000466779.5:c.*15_*18dup	ENSP00000417321.1:n.*15_*18dup
ENST00000466879.5:n.374_377dup
ENST00000469053.5:c.*15_*18dup	ENSP00000418104.1:n.*15_*18dup
ENST00000471671.4:c.323_326dup	ENSP00000418561.1:p.Leu110ValfsTer26
ENST00000478281.5:c.356_359dup	ENSP00000419572.1:p.Leu121ValfsTer26
ENST00000479074.5:n.381_384dup
ENST00000479730.5:n.478_481dup
ENST00000483041.5:n.492_495dup
ENST00000486063.5:n.503_506dup
ENST00000488465.1:n.331_334dup
NM_000500.7:c.323_326dup	NP_000491.4:p.Leu110ValfsTer26
NM_001128590.3:c.233_236dup	NP_001122062.3:p.Leu80ValfsTer26
XM_011514314.1:c.-83_-80dup	XP_011512616.1:n.-83_-80dup
NM_000500.9:c.323_326dup MANE Select	NP_000491.4:p.Leu110ValfsTer26
NM_001368143.1:c.-83_-80dup	NP_001355072.1:n.-83_-80dup
NM_001368144.1:c.-83_-80dup	NP_001355073.1:n.-83_-80dup
NM_001128590.4:c.233_236dup	NP_001122062.3:p.Leu80ValfsTer26
NM_001368143.2:c.-83_-80dup	NP_001355072.1:n.-83_-80dup
NM_001368144.2:c.-83_-80dup	NP_001355073.1:n.-83_-80dup