Canonical Allele Identifier: CA2653134172

Gene: CD40

Linked Data

• gnomAD v4: 20-46129195-A-AGACAGTGAGGCTGCACCCACCCAGGAGTGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129195_46129196insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG , CM000682.2:g.46129195_46129196insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	GRCh38
NC_000020.10:g.44757834_44757835insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG , CM000682.1:g.44757834_44757835insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	GRCh37
NC_000020.9:g.44191241_44191242insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NCBI36
NG_007279.1:g.15929_15930insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG , LRG_40:g.15929_15930insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1072_1073insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	ENSP00000512096.1:n.1072_1073insGACAGTGAGGCTGCACCCACCCAGGAGTG...
ENST00000695675.1:n.2865_2866insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
ENST00000372285.8:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG MANE Select	ENSP00000361359.3:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTG...
ENST00000372276.7:c.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	ENSP00000361350.3:n.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTG...
ENST00000372285.7:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	ENSP00000361359.3:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTG...
ENST00000489304.5:n.1065_1066insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
ENST00000620709.4:c.*536_*537insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	ENSP00000484074.1:n.*536_*537insGACAGTGAGGCTGCACCCACCCAGGAGTG...
NM_001250.5:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_001241.1:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
NM_001302753.1:c.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_001289682.1:n.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
NM_152854.3:c.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_690593.1:n.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
NR_126502.1:n.1082_1083insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
XM_005260617.2:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	XP_005260674.1:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
XM_005260619.2:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	XP_005260676.1:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
NM_001322421.1:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_001309350.1:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
NM_001322422.1:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_001309351.1:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
NM_001362758.1:c.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_001349687.1:n.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
NR_136327.1:n.985_986insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
XM_005260619.3:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	XP_005260676.1:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
XM_017028135.1:c.*52_*53insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	XP_016883624.1:n.*52_*53insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
XM_017028136.1:c.*52_*53insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	XP_016883625.1:n.*52_*53insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
NM_001250.6:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG MANE Select	NP_001241.1:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
NM_001302753.2:c.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_001289682.1:n.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
NM_001322421.2:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_001309350.1:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
NM_001322422.2:c.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_001309351.1:n.*155_*156insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
NM_001362758.2:c.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_001349687.1:n.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG...
NM_152854.4:c.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG	NP_690593.1:n.*315_*316insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
NR_126502.2:n.1022_1023insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG
NR_136327.2:n.925_926insGACAGTGAGGCTGCACCCACCCAGGAGTGTGG