Canonical Allele Identifier: CA2653132126

Gene: CD40

Linked Data

• gnomAD v4: 20-46122326-C-CACAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122329_46122330insGAGACA , CM000682.2:g.46122329_46122330insGAGACA	GRCh38
NC_000020.10:g.44750968_44750969insGAGACA , CM000682.1:g.44750968_44750969insGAGACA	GRCh37
NC_000020.9:g.44184375_44184376insGAGACA	NCBI36
NG_007279.1:g.9063_9064insGAGACA , LRG_40:g.9063_9064insGAGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.323_324insGAGACA	ENSP00000512095.1:n.323_324insGAGACA
ENST00000489304.6:c.227_228insGAGACA	ENSP00000512096.1:p.Thr75_His76insGlnArg
ENST00000695669.1:n.300_301insGAGACA
ENST00000695670.1:n.207_208insGAGACA
ENST00000695671.1:c.227_228insGAGACA	ENSP00000512093.1:p.Thr75_His76insGlnArg
ENST00000695672.1:n.152_153insGAGACA
ENST00000695673.1:n.92_93insGAGACA
ENST00000372285.8:c.227_228insGAGACA MANE Select	ENSP00000361359.3:p.Thr75_His76insGlnArg
ENST00000372276.7:c.227_228insGAGACA	ENSP00000361350.3:p.Thr75_His76insGlnArg
ENST00000372285.7:c.227_228insGAGACA	ENSP00000361359.3:p.Thr75_His76insGlnArg
ENST00000461171.1:n.12_13insGAGACA
ENST00000466205.5:c.223_224insGAGACA
ENST00000477696.5:n.294_295insGAGACA
ENST00000489304.5:n.220_221insGAGACA
ENST00000620709.4:c.227_228insGAGACA	ENSP00000484074.1:p.Thr75_His76insGlnArg
NM_001250.5:c.227_228insGAGACA	NP_001241.1:p.Thr75_His76insGlnArg
NM_001302753.1:c.227_228insGAGACA	NP_001289682.1:p.Thr75_His76insGlnArg
NM_152854.3:c.227_228insGAGACA	NP_690593.1:p.Thr75_His76insGlnArg
NR_126502.1:n.317_318insGAGACA
XM_005260617.2:c.227_228insGAGACA	XP_005260674.1:p.Thr75_His76insGlnArg
XM_005260619.2:c.227_228insGAGACA	XP_005260676.1:p.Thr75_His76insGlnArg
XM_011529109.1:c.227_228insGAGACA	XP_011527411.1:p.Thr75_His76insGlnArg
XR_936660.1:n.321_322insGAGACA
NM_001322421.1:c.227_228insGAGACA	NP_001309350.1:p.Thr75_His76insGlnArg
NM_001322422.1:c.227_228insGAGACA	NP_001309351.1:p.Thr75_His76insGlnArg
NM_001362758.1:c.227_228insGAGACA	NP_001349687.1:p.Thr75_His76insGlnArg
NR_136327.1:n.317_318insGAGACA
XM_005260619.3:c.227_228insGAGACA	XP_005260676.1:p.Thr75_His76insGlnArg
XM_011529109.2:c.227_228insGAGACA	XP_011527411.1:p.Thr75_His76insGlnArg
XM_017028135.1:c.227_228insGAGACA	XP_016883624.1:p.Thr75_His76insGlnArg
XM_017028136.1:c.227_228insGAGACA	XP_016883625.1:p.Thr75_His76insGlnArg
NM_001250.6:c.227_228insGAGACA MANE Select	NP_001241.1:p.Thr75_His76insGlnArg
NM_001302753.2:c.227_228insGAGACA	NP_001289682.1:p.Thr75_His76insGlnArg
NM_001322421.2:c.227_228insGAGACA	NP_001309350.1:p.Thr75_His76insGlnArg
NM_001322422.2:c.227_228insGAGACA	NP_001309351.1:p.Thr75_His76insGlnArg
NM_001362758.2:c.227_228insGAGACA	NP_001349687.1:p.Thr75_His76insGlnArg
NM_152854.4:c.227_228insGAGACA	NP_690593.1:p.Thr75_His76insGlnArg
NR_126502.2:n.257_258insGAGACA
NR_136327.2:n.257_258insGAGACA