Canonical Allele Identifier: CA2678090707

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32041108-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041111del , CM000668.2:g.32041111del	GRCh38
NC_000006.11:g.32008888del , CM000668.1:g.32008888del	GRCh37
NC_000006.10:g.32116867del	NCBI36
NG_007941.2:g.7804del
NG_008337.2:g.73266del
NG_007941.3:g.7807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1465del MANE Select	ENSP00000496625.1:p.His489ThrfsTer?
ENST00000418967.6:c.1465del	ENSP00000408860.2:p.His489ThrfsTer?
ENST00000435122.3:c.1375del	ENSP00000415043.2:p.His459ThrfsTer?
ENST00000479074.5:n.1606del
ENST00000479730.5:n.1581del
ENST00000483041.5:n.1634del
ENST00000486063.5:n.1444del
NM_000500.7:c.1465del	NP_000491.4:p.His489ThrfsTer?
NM_001128590.3:c.1375del	NP_001122062.3:p.His459ThrfsTer?
XM_011514314.1:c.1060del	XP_011512616.1:p.His354ThrfsTer?
NM_000500.9:c.1465del MANE Select	NP_000491.4:p.His489ThrfsTer?
NM_001368143.1:c.1060del	NP_001355072.1:p.His354ThrfsTer?
NM_001368144.1:c.1060del	NP_001355073.1:p.His354ThrfsTer?
NM_001128590.4:c.1375del	NP_001122062.3:p.His459ThrfsTer?
NM_001368143.2:c.1060del	NP_001355072.1:p.His354ThrfsTer?
NM_001368144.2:c.1060del	NP_001355073.1:p.His354ThrfsTer?