Canonical Allele Identifier: CA2366533715
Gene: CD40 HGNC NCBI

Linked Data

dbSNP Id: rs2085495765

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128889_46128891del , CM000682.2:g.46128889_46128891del GRCh38
NC_000020.10:g.44757528_44757530del , CM000682.1:g.44757528_44757530del GRCh37
NC_000020.9:g.44190935_44190937del NCBI36
NG_007279.1:g.15623_15625del , LRG_40:g.15623_15625del

Transcript Alleles

HGVS Amino-acid change
ENST00000477696.6:c.685_687del ENSP00000512095.1:n.685_687del
ENST00000489304.6:c.766_768del ENSP00000512096.1:n.766_768del
ENST00000695675.1:n.2559_2561del
ENST00000372285.8:c.683_685del MANE Select ENSP00000361359.3:p.His228del
ENST00000372276.7:c.*9_*11del ENSP00000361350.3:n.*9_*11del
ENST00000372285.7:c.683_685del ENSP00000361359.3:p.His228del
ENST00000466205.5:c.585_587del
ENST00000477696.5:n.656_658del
ENST00000489304.5:n.759_761del
ENST00000620709.4:c.*230_*232del ENSP00000484074.1:n.*230_*232del
NM_001250.5:c.683_685del NP_001241.1:p.His228del
NM_001302753.1:c.*9_*11del NP_001289682.1:n.*9_*11del
NM_152854.3:c.*9_*11del NP_690593.1:n.*9_*11del
NR_126502.1:n.776_778del
XM_005260617.2:c.695_697del XP_005260674.1:p.His232del
XM_005260619.2:c.539_541del XP_005260676.1:p.His180del
XR_936660.1:n.683_685del
NM_001322421.1:c.695_697del NP_001309350.1:p.His232del
NM_001322422.1:c.527_529del NP_001309351.1:p.His176del
NM_001362758.1:c.*9_*11del NP_001349687.1:n.*9_*11del
NR_136327.1:n.679_681del
XM_005260619.3:c.539_541del XP_005260676.1:p.His180del
XM_017028135.1:c.718_720del XP_016883624.1:p.Thr240del
XM_017028136.1:c.616_618del XP_016883625.1:p.Thr206del
NM_001250.6:c.683_685del MANE Select NP_001241.1:p.His228del
NM_001302753.2:c.*9_*11del NP_001289682.1:n.*9_*11del
NM_001322421.2:c.695_697del NP_001309350.1:p.His232del
NM_001322422.2:c.527_529del NP_001309351.1:p.His176del
NM_001362758.2:c.*9_*11del NP_001349687.1:n.*9_*11del
NM_152854.4:c.*9_*11del NP_690593.1:n.*9_*11del
NR_126502.2:n.716_718del
NR_136327.2:n.619_621del