Canonical Allele Identifier: CA2695206154

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038566del , CM000668.2:g.32038566del	GRCh38
NC_000006.11:g.32006343del , CM000668.1:g.32006343del	GRCh37
NC_000006.10:g.32114322del	NCBI36
NG_007941.2:g.5259del
NG_007941.3:g.5262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.144del MANE Select	ENSP00000496625.1:p.Leu49CysfsTer4
ENST00000418967.6:c.144del	ENSP00000408860.2:p.Leu49CysfsTer4
ENST00000435122.3:c.144del	ENSP00000415043.2:p.Leu49CysfsTer4
ENST00000466779.5:c.144del	ENSP00000417321.1:p.Leu49CysfsTer4
ENST00000469053.5:c.144del	ENSP00000418104.1:p.Leu49CysfsTer4
ENST00000471671.4:c.144del	ENSP00000418561.1:p.Leu49CysfsTer4
ENST00000478281.5:c.144del	ENSP00000419572.1:p.Leu49CysfsTer4
ENST00000479074.5:n.202del
ENST00000479730.5:n.202del
ENST00000480027.1:n.197del
ENST00000483041.5:n.197del
ENST00000486063.5:n.227del
ENST00000488465.1:n.152del
NM_000500.7:c.144del	NP_000491.4:p.Leu49CysfsTer4
NM_001128590.3:c.144del	NP_001122062.3:p.Leu49CysfsTer4
XM_011514314.1:c.-281del	XP_011512616.1:n.-281del
NM_000500.9:c.144del MANE Select	NP_000491.4:p.Leu49CysfsTer4
NM_001368143.1:c.-281del	NP_001355072.1:n.-281del
NM_001368144.1:c.-191del	NP_001355073.1:n.-191del
NM_001128590.4:c.144del	NP_001122062.3:p.Leu49CysfsTer4
NM_001368143.2:c.-281del	NP_001355072.1:n.-281del
NM_001368144.2:c.-191del	NP_001355073.1:n.-191del