Canonical Allele Identifier: CA2578574159

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040438del , CM000668.2:g.32040438del	GRCh38
NC_000006.11:g.32008215del , CM000668.1:g.32008215del	GRCh37
NC_000006.10:g.32116194del	NCBI36
NG_007941.2:g.7131del
NG_008337.2:g.73937del
NG_007941.3:g.7134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.972del MANE Select	ENSP00000496625.1:p.His324GlnfsTer?
ENST00000418967.6:c.972del	ENSP00000408860.2:p.His324GlnfsTer?
ENST00000435122.3:c.882del	ENSP00000415043.2:p.His294GlnfsTer?
ENST00000479074.5:n.1030del
ENST00000479730.5:n.1088del
ENST00000483041.5:n.1141del
ENST00000486063.5:n.951del
NM_000500.7:c.972del	NP_000491.4:p.His324GlnfsTer?
NM_001128590.3:c.882del	NP_001122062.3:p.His294GlnfsTer?
XM_011514314.1:c.567del	XP_011512616.1:p.His189GlnfsTer?
NM_000500.9:c.972del MANE Select	NP_000491.4:p.His324GlnfsTer?
NM_001368143.1:c.567del	NP_001355072.1:p.His189GlnfsTer?
NM_001368144.1:c.567del	NP_001355073.1:p.His189GlnfsTer?
NM_001128590.4:c.882del	NP_001122062.3:p.His294GlnfsTer?
NM_001368143.2:c.567del	NP_001355072.1:p.His189GlnfsTer?
NM_001368144.2:c.567del	NP_001355073.1:p.His189GlnfsTer?