Canonical Allele Identifier: CA2695206153

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038560dup , CM000668.2:g.32038560dup	GRCh38
NC_000006.11:g.32006337dup , CM000668.1:g.32006337dup	GRCh37
NC_000006.10:g.32114316dup	NCBI36
NG_007941.3:g.5256dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.138dup MANE Select	ENSP00000496625.1:p.Ile47HisfsTer?
ENST00000418967.6:c.138dup	ENSP00000408860.2:p.Ile47HisfsTer?
ENST00000435122.3:c.138dup	ENSP00000415043.2:p.Ile47HisfsTer27
ENST00000466779.5:c.138dup	ENSP00000417321.1:p.Ile47HisfsTer?
ENST00000469053.5:c.138dup	ENSP00000418104.1:p.Ile47HisfsTer?
ENST00000471671.4:c.138dup	ENSP00000418561.1:p.Ile47HisfsTer?
ENST00000478281.5:c.138dup	ENSP00000419572.1:p.Ile47HisfsTer?
ENST00000479074.5:n.196dup
ENST00000479730.5:n.196dup
ENST00000480027.1:n.191dup
ENST00000483041.5:n.191dup
ENST00000486063.5:n.221dup
ENST00000488465.1:n.146dup
NM_000500.7:c.138dup	NP_000491.4:p.Ile47HisfsTer?
NM_001128590.3:c.138dup	NP_001122062.3:p.Ile47HisfsTer27
XM_011514314.1:c.-287dup	XP_011512616.1:n.-287dup
NM_000500.9:c.138dup MANE Select	NP_000491.4:p.Ile47HisfsTer?
NM_001368143.1:c.-287dup	NP_001355072.1:n.-287dup
NM_001368144.1:c.-197dup	NP_001355073.1:n.-197dup
NM_001128590.4:c.138dup	NP_001122062.3:p.Ile47HisfsTer27
NM_001368143.2:c.-287dup	NP_001355072.1:n.-287dup
NM_001368144.2:c.-197dup	NP_001355073.1:n.-197dup