Canonical Allele Identifier: CA2678089011

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040080-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040081del , CM000668.2:g.32040081del	GRCh38
NC_000006.11:g.32007858del , CM000668.1:g.32007858del	GRCh37
NC_000006.10:g.32115837del	NCBI36
NG_007941.2:g.6774del
NG_008337.2:g.74294del
NG_007941.3:g.6777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.815del MANE Select	ENSP00000496625.1:p.Glu272GlyfsTer19
ENST00000418967.6:c.815del	ENSP00000408860.2:p.Glu272GlyfsTer19
ENST00000435122.3:c.725del	ENSP00000415043.2:p.Glu242GlyfsTer19
ENST00000479074.5:n.873del
ENST00000479730.5:n.931del
ENST00000483041.5:n.984del
ENST00000486063.5:n.918+246del
NM_000500.7:c.815del	NP_000491.4:p.Glu272GlyfsTer19
NM_001128590.3:c.725del	NP_001122062.3:p.Glu242GlyfsTer19
XM_011514314.1:c.410del	XP_011512616.1:p.Glu137GlyfsTer19
NM_000500.9:c.815del MANE Select	NP_000491.4:p.Glu272GlyfsTer19
NM_001368143.1:c.410del	NP_001355072.1:p.Glu137GlyfsTer19
NM_001368144.1:c.410del	NP_001355073.1:p.Glu137GlyfsTer19
NM_001128590.4:c.725del	NP_001122062.3:p.Glu242GlyfsTer19
NM_001368143.2:c.410del	NP_001355072.1:p.Glu137GlyfsTer19
NM_001368144.2:c.410del	NP_001355073.1:p.Glu137GlyfsTer19