Canonical Allele Identifier: CA2366533252

Gene: CD40

Linked Data

• dbSNP Id: rs2085503580

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129143_46129146del , CM000682.2:g.46129143_46129146del	GRCh38
NC_000020.10:g.44757782_44757785del , CM000682.1:g.44757782_44757785del	GRCh37
NC_000020.9:g.44191189_44191192del	NCBI36
NG_007279.1:g.15877_15880del , LRG_40:g.15877_15880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1020_1023del	ENSP00000512096.1:n.1020_1023del
ENST00000695675.1:n.2813_2816del
ENST00000372285.8:c.*103_*106del MANE Select	ENSP00000361359.3:n.*103_*106del
ENST00000372276.7:c.*263_*266del	ENSP00000361350.3:n.*263_*266del
ENST00000372285.7:c.*103_*106del	ENSP00000361359.3:n.*103_*106del
ENST00000489304.5:n.1013_1016del
ENST00000620709.4:c.*484_*487del	ENSP00000484074.1:n.*484_*487del
NM_001250.5:c.*103_*106del	NP_001241.1:n.*103_*106del
NM_001302753.1:c.*263_*266del	NP_001289682.1:n.*263_*266del
NM_152854.3:c.*263_*266del	NP_690593.1:n.*263_*266del
NR_126502.1:n.1030_1033del
XM_005260617.2:c.*103_*106del	XP_005260674.1:n.*103_*106del
XM_005260619.2:c.*103_*106del	XP_005260676.1:n.*103_*106del
NM_001322421.1:c.*103_*106del	NP_001309350.1:n.*103_*106del
NM_001322422.1:c.*103_*106del	NP_001309351.1:n.*103_*106del
NM_001362758.1:c.*263_*266del	NP_001349687.1:n.*263_*266del
NR_136327.1:n.933_936del
XM_005260619.3:c.*103_*106del	XP_005260676.1:n.*103_*106del
XM_017028135.1:c.972_*3del	XP_016883624.1:n.[c.972_*3del;Ter324TrpextTer3]
XM_017028136.1:c.870_*3del	XP_016883625.1:n.[c.870_*3del;Ter290TrpextTer3]
NM_001250.6:c.*103_*106del MANE Select	NP_001241.1:n.*103_*106del
NM_001302753.2:c.*263_*266del	NP_001289682.1:n.*263_*266del
NM_001322421.2:c.*103_*106del	NP_001309350.1:n.*103_*106del
NM_001322422.2:c.*103_*106del	NP_001309351.1:n.*103_*106del
NM_001362758.2:c.*263_*266del	NP_001349687.1:n.*263_*266del
NM_152854.4:c.*263_*266del	NP_690593.1:n.*263_*266del
NR_126502.2:n.970_973del
NR_136327.2:n.873_876del