Canonical Allele Identifier: CA2695229782

Gene: CD40

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129029del , CM000682.2:g.46129029del	GRCh38
NC_000020.10:g.44757668del , CM000682.1:g.44757668del	GRCh37
NC_000020.9:g.44191075del	NCBI36
NG_007279.1:g.15763del , LRG_40:g.15763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.906del	ENSP00000512096.1:n.906del
ENST00000695675.1:n.2699del
ENST00000372285.8:c.823del MANE Select	ENSP00000361359.3:p.Glu275ArgfsTer?
ENST00000372276.7:c.*149del	ENSP00000361350.3:n.*149del
ENST00000372285.7:c.823del	ENSP00000361359.3:p.Glu275ArgfsTer?
ENST00000466205.5:c.725del
ENST00000489304.5:n.899del
ENST00000620709.4:c.*370del	ENSP00000484074.1:n.*370del
NM_001250.5:c.823del	NP_001241.1:p.Glu275ArgfsTer?
NM_001302753.1:c.*149del	NP_001289682.1:n.*149del
NM_152854.3:c.*149del	NP_690593.1:n.*149del
NR_126502.1:n.916del
XM_005260617.2:c.835del	XP_005260674.1:p.Glu279ArgfsTer?
XM_005260619.2:c.679del	XP_005260676.1:p.Glu227ArgfsTer?
XR_936660.1:n.823del
NM_001322421.1:c.835del	NP_001309350.1:p.Glu279ArgfsTer?
NM_001322422.1:c.667del	NP_001309351.1:p.Glu223ArgfsTer?
NM_001362758.1:c.*149del	NP_001349687.1:n.*149del
NR_136327.1:n.819del
XM_005260619.3:c.679del	XP_005260676.1:p.Glu227ArgfsTer?
XM_017028135.1:c.858del	XP_016883624.1:p.Arg287GlufsTer?
XM_017028136.1:c.756del	XP_016883625.1:p.Arg253GlufsTer?
NM_001250.6:c.823del MANE Select	NP_001241.1:p.Glu275ArgfsTer?
NM_001302753.2:c.*149del	NP_001289682.1:n.*149del
NM_001322421.2:c.835del	NP_001309350.1:p.Glu279ArgfsTer?
NM_001322422.2:c.667del	NP_001309351.1:p.Glu223ArgfsTer?
NM_001362758.2:c.*149del	NP_001349687.1:n.*149del
NM_152854.4:c.*149del	NP_690593.1:n.*149del
NR_126502.2:n.856del
NR_136327.2:n.759del