Canonical Allele Identifier: CA2577415045

Gene: CD40

Linked Data

• gnomAD v4: 20-46128154-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128155del , CM000682.2:g.46128155del	GRCh38
NC_000020.10:g.44756794del , CM000682.1:g.44756794del	GRCh37
NC_000020.9:g.44190201del	NCBI36
NG_007279.1:g.14889del , LRG_40:g.14889del

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.579del	ENSP00000512095.1:n.579del
ENST00000489304.6:c.660del	ENSP00000512096.1:n.660del
ENST00000695670.1:n.546del
ENST00000695671.1:c.617del	ENSP00000512093.1:p.Glu206GlyfsTer?
ENST00000695674.1:n.1056del
ENST00000695675.1:n.2453del
ENST00000372285.8:c.577del MANE Select	ENSP00000361359.3:p.Arg193GlufsTer5
ENST00000372276.7:c.515del	ENSP00000361350.3:p.Glu172GlyfsTer?
ENST00000372285.7:c.577del	ENSP00000361359.3:p.Arg193GlufsTer5
ENST00000466205.5:c.479del
ENST00000477696.5:n.550del
ENST00000489304.5:n.653del
ENST00000620709.4:c.*124del	ENSP00000484074.1:n.*124del
NM_001250.5:c.577del	NP_001241.1:p.Arg193GlufsTer5
NM_001302753.1:c.617del	NP_001289682.1:p.Glu206GlyfsTer?
NM_152854.3:c.515del	NP_690593.1:p.Glu172GlyfsTer?
NR_126502.1:n.670del
XM_005260617.2:c.577del	XP_005260674.1:p.Arg193GlufsTer5
XM_005260619.2:c.421del	XP_005260676.1:p.Arg141GlufsTer5
XR_936660.1:n.577del
NM_001322421.1:c.577del	NP_001309350.1:p.Arg193GlufsTer5
NM_001322422.1:c.421del	NP_001309351.1:p.Arg141GlufsTer5
NM_001362758.1:c.577del	NP_001349687.1:p.Arg193GlufsTer5
NR_136327.1:n.573del
XM_005260619.3:c.421del	XP_005260676.1:p.Arg141GlufsTer5
XM_017028135.1:c.617del	XP_016883624.1:p.Glu206GlyfsTer?
XM_017028136.1:c.515del	XP_016883625.1:p.Glu172GlyfsTer?
NM_001250.6:c.577del MANE Select	NP_001241.1:p.Arg193GlufsTer5
NM_001302753.2:c.617del	NP_001289682.1:p.Glu206GlyfsTer?
NM_001322421.2:c.577del	NP_001309350.1:p.Arg193GlufsTer5
NM_001322422.2:c.421del	NP_001309351.1:p.Arg141GlufsTer5
NM_001362758.2:c.577del	NP_001349687.1:p.Arg193GlufsTer5
NM_152854.4:c.515del	NP_690593.1:p.Glu172GlyfsTer?
NR_126502.2:n.610del
NR_136327.2:n.513del