Canonical Allele Identifier: CA2678088392

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038798-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038799del , CM000668.2:g.32038799del	GRCh38
NC_000006.11:g.32006576del , CM000668.1:g.32006576del	GRCh37
NC_000006.10:g.32114555del	NCBI36
NG_007941.2:g.5492del
NG_007941.3:g.5495del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.280del MANE Select	ENSP00000496625.1:p.Glu94SerfsTer?
ENST00000418967.6:c.280del	ENSP00000408860.2:p.Glu94SerfsTer?
ENST00000435122.3:c.202+175del	ENSP00000415043.2:n.202+175del
ENST00000464325.5:n.217del
ENST00000466779.5:c.280del	ENSP00000417321.1:p.Glu94SerfsTer?
ENST00000466879.5:n.49del
ENST00000469053.5:c.202+175del	ENSP00000418104.1:n.202+175del
ENST00000471671.4:c.280del	ENSP00000418561.1:p.Glu94SerfsTer?
ENST00000478281.5:c.280del	ENSP00000419572.1:p.Glu94SerfsTer?
ENST00000479074.5:n.338del
ENST00000479730.5:n.435del
ENST00000480027.1:n.333del
ENST00000483041.5:n.430del
ENST00000486063.5:n.460del
ENST00000488465.1:n.288del
NM_000500.7:c.280del	NP_000491.4:p.Glu94SerfsTer?
NM_001128590.3:c.202+175del	NP_001122062.3:n.202+175del
XM_011514314.1:c.-145del	XP_011512616.1:n.-145del
NM_000500.9:c.280del MANE Select	NP_000491.4:p.Glu94SerfsTer?
NM_001368143.1:c.-145del	NP_001355072.1:n.-145del
NM_001368144.1:c.-133+175del	NP_001355073.1:n.-133+175del
NM_001128590.4:c.202+175del	NP_001122062.3:n.202+175del
NM_001368143.2:c.-145del	NP_001355072.1:n.-145del
NM_001368144.2:c.-133+175del	NP_001355073.1:n.-133+175del