Canonical Allele Identifier: CA2678088954

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040021-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040023del , CM000668.2:g.32040023del	GRCh38
NC_000006.11:g.32007800del , CM000668.1:g.32007800del	GRCh37
NC_000006.10:g.32115779del	NCBI36
NG_007941.2:g.6716del
NG_008337.2:g.74353del
NG_007941.3:g.6719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.757del MANE Select	ENSP00000496625.1:p.Gln253SerfsTer5
ENST00000418967.6:c.757del	ENSP00000408860.2:p.Gln253SerfsTer5
ENST00000435122.3:c.667del	ENSP00000415043.2:p.Gln223SerfsTer5
ENST00000479074.5:n.815del
ENST00000479730.5:n.873del
ENST00000483041.5:n.926del
ENST00000486063.5:n.918+188del
NM_000500.7:c.757del	NP_000491.4:p.Gln253SerfsTer5
NM_001128590.3:c.667del	NP_001122062.3:p.Gln223SerfsTer5
XM_011514314.1:c.352del	XP_011512616.1:p.Gln118SerfsTer5
NM_000500.9:c.757del MANE Select	NP_000491.4:p.Gln253SerfsTer5
NM_001368143.1:c.352del	NP_001355072.1:p.Gln118SerfsTer5
NM_001368144.1:c.352del	NP_001355073.1:p.Gln118SerfsTer5
NM_001128590.4:c.667del	NP_001122062.3:p.Gln223SerfsTer5
NM_001368143.2:c.352del	NP_001355072.1:p.Gln118SerfsTer5
NM_001368144.2:c.352del	NP_001355073.1:p.Gln118SerfsTer5