Canonical Allele Identifier: CA2653134240

Gene: CD40

Linked Data

• gnomAD v4: 20-46129227-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129229del , CM000682.2:g.46129229del	GRCh38
NC_000020.10:g.44757868del , CM000682.1:g.44757868del	GRCh37
NC_000020.9:g.44191275del	NCBI36
NG_007279.1:g.15963del , LRG_40:g.15963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1106del	ENSP00000512096.1:n.1106del
ENST00000695675.1:n.2899del
ENST00000372285.8:c.*189del MANE Select	ENSP00000361359.3:n.*189del
ENST00000372276.7:c.*349del	ENSP00000361350.3:n.*349del
ENST00000372285.7:c.*189del	ENSP00000361359.3:n.*189del
ENST00000489304.5:n.1099del
ENST00000620709.4:c.*570del	ENSP00000484074.1:n.*570del
NM_001250.5:c.*189del	NP_001241.1:n.*189del
NM_001302753.1:c.*349del	NP_001289682.1:n.*349del
NM_152854.3:c.*349del	NP_690593.1:n.*349del
NR_126502.1:n.1116del
XM_005260617.2:c.*189del	XP_005260674.1:n.*189del
XM_005260619.2:c.*189del	XP_005260676.1:n.*189del
NM_001322421.1:c.*189del	NP_001309350.1:n.*189del
NM_001322422.1:c.*189del	NP_001309351.1:n.*189del
NM_001362758.1:c.*349del	NP_001349687.1:n.*349del
NR_136327.1:n.1019del
XM_005260619.3:c.*189del	XP_005260676.1:n.*189del
XM_017028135.1:c.*86del	XP_016883624.1:n.*86del
XM_017028136.1:c.*86del	XP_016883625.1:n.*86del
NM_001250.6:c.*189del MANE Select	NP_001241.1:n.*189del
NM_001302753.2:c.*349del	NP_001289682.1:n.*349del
NM_001322421.2:c.*189del	NP_001309350.1:n.*189del
NM_001322422.2:c.*189del	NP_001309351.1:n.*189del
NM_001362758.2:c.*349del	NP_001349687.1:n.*349del
NM_152854.4:c.*349del	NP_690593.1:n.*349del
NR_126502.2:n.1056del
NR_136327.2:n.959del