Canonical Allele Identifier: CA2695206165

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039586_32039588del , CM000668.2:g.32039586_32039588del	GRCh38
NC_000006.11:g.32007363_32007365del , CM000668.1:g.32007363_32007365del	GRCh37
NC_000006.10:g.32115342_32115344del	NCBI36
NG_007941.2:g.6279_6281del
NG_008337.2:g.74790_74792del
NG_007941.3:g.6282_6284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.590_592del MANE Select	ENSP00000496625.1:p.Glu197del
ENST00000418967.6:c.590_592del	ENSP00000408860.2:p.Glu197del
ENST00000435122.3:c.500_502del	ENSP00000415043.2:p.Glu167del
ENST00000462278.1:n.178_180del
ENST00000464325.5:n.511_513del
ENST00000466779.5:c.*282_*284del	ENSP00000417321.1:n.*282_*284del
ENST00000466879.5:n.641_643del
ENST00000469053.5:c.*282_*284del	ENSP00000418104.1:n.*282_*284del
ENST00000471671.4:c.551_553del
ENST00000479074.5:n.648_650del
ENST00000479730.5:n.706_708del
ENST00000483041.5:n.759_761del
ENST00000486063.5:n.770_772del
NM_000500.7:c.590_592del	NP_000491.4:p.Glu197del
NM_001128590.3:c.500_502del	NP_001122062.3:p.Glu167del
XM_011514314.1:c.185_187del	XP_011512616.1:p.Glu62del
NM_000500.9:c.590_592del MANE Select	NP_000491.4:p.Glu197del
NM_001368143.1:c.185_187del	NP_001355072.1:p.Glu62del
NM_001368144.1:c.185_187del	NP_001355073.1:p.Glu62del
NM_001128590.4:c.500_502del	NP_001122062.3:p.Glu167del
NM_001368143.2:c.185_187del	NP_001355072.1:p.Glu62del
NM_001368144.2:c.185_187del	NP_001355073.1:p.Glu62del