Canonical Allele Identifier: CA315654909
Gene: CD40 HGNC NCBI

Linked Data

dbSNP Id: rs751626954

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129057del , CM000682.2:g.46129057del GRCh38
NC_000020.10:g.44757696del , CM000682.1:g.44757696del GRCh37
NC_000020.9:g.44191103del NCBI36
NG_007279.1:g.15791del , LRG_40:g.15791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.934del ENSP00000512096.1:n.934del
ENST00000695675.1:n.2727del
ENST00000372285.8:c.*17del MANE Select ENSP00000361359.3:n.*17del
ENST00000372276.7:c.*177del ENSP00000361350.3:n.*177del
ENST00000372285.7:c.*17del ENSP00000361359.3:n.*17del
ENST00000466205.5:c.753del
ENST00000489304.5:n.927del
ENST00000620709.4:c.*398del ENSP00000484074.1:n.*398del
NM_001250.5:c.*17del NP_001241.1:n.*17del
NM_001302753.1:c.*177del NP_001289682.1:n.*177del
NM_152854.3:c.*177del NP_690593.1:n.*177del
NR_126502.1:n.944del
XM_005260617.2:c.*17del XP_005260674.1:n.*17del
XM_005260619.2:c.*17del XP_005260676.1:n.*17del
NM_001322421.1:c.*17del NP_001309350.1:n.*17del
NM_001322422.1:c.*17del NP_001309351.1:n.*17del
NM_001362758.1:c.*177del NP_001349687.1:n.*177del
NR_136327.1:n.847del
XM_005260619.3:c.*17del XP_005260676.1:n.*17del
XM_017028135.1:c.886del XP_016883624.1:p.Glu296SerfsTer22
XM_017028136.1:c.784del XP_016883625.1:p.Glu262SerfsTer22
NM_001250.6:c.*17del MANE Select NP_001241.1:n.*17del
NM_001302753.2:c.*177del NP_001289682.1:n.*177del
NM_001322421.2:c.*17del NP_001309350.1:n.*17del
NM_001322422.2:c.*17del NP_001309351.1:n.*17del
NM_001362758.2:c.*177del NP_001349687.1:n.*177del
NM_152854.4:c.*177del NP_690593.1:n.*177del
NR_126502.2:n.884del
NR_136327.2:n.787del