Canonical Allele Identifier: CA2578574219

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040744-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040747del , CM000668.2:g.32040747del	GRCh38
NC_000006.11:g.32008524del , CM000668.1:g.32008524del	GRCh37
NC_000006.10:g.32116503del	NCBI36
NG_007941.2:g.7440del
NG_008337.2:g.73630del
NG_007941.3:g.7443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1198del MANE Select	ENSP00000496625.1:p.Glu400ArgfsTer?
ENST00000418967.6:c.1198del	ENSP00000408860.2:p.Glu400ArgfsTer?
ENST00000435122.3:c.1108del	ENSP00000415043.2:p.Glu370ArgfsTer?
ENST00000479074.5:n.1339del
ENST00000479730.5:n.1314del
ENST00000483041.5:n.1367del
ENST00000486063.5:n.1177del
NM_000500.7:c.1198del	NP_000491.4:p.Glu400ArgfsTer?
NM_001128590.3:c.1108del	NP_001122062.3:p.Glu370ArgfsTer?
XM_011514314.1:c.793del	XP_011512616.1:p.Glu265ArgfsTer?
NM_000500.9:c.1198del MANE Select	NP_000491.4:p.Glu400ArgfsTer?
NM_001368143.1:c.793del	NP_001355072.1:p.Glu265ArgfsTer?
NM_001368144.1:c.793del	NP_001355073.1:p.Glu265ArgfsTer?
NM_001128590.4:c.1108del	NP_001122062.3:p.Glu370ArgfsTer?
NM_001368143.2:c.793del	NP_001355072.1:p.Glu265ArgfsTer?
NM_001368144.2:c.793del	NP_001355073.1:p.Glu265ArgfsTer?