Canonical Allele Identifier: CA2580101584
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 2013065
ClinVar RCV Id: RCV002834387
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659060del , CM000685.2:g.136659060del GRCh38
NC_000023.10:g.135741219del , CM000685.1:g.135741219del GRCh37
NC_000023.9:g.135568885del NCBI36
NG_007280.1:g.15884del , LRG_141:g.15884del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*49del ENSP00000512122.1:n.*49del
ENST00000695725.1:c.178del ENSP00000512123.1:p.Asp60IlefsTer20
ENST00000695726.1:n.2399del
ENST00000695729.1:n.3234del
ENST00000370629.7:c.431del MANE Select ENSP00000359663.2:p.Gly144AspfsTer5
ENST00000370628.2:c.368del ENSP00000359662.2:p.Gly123AspfsTer5
ENST00000370629.6:c.431del ENSP00000359663.2:p.Gly144AspfsTer5
NM_000074.2:c.431del , LRG_141t1:c.431del NP_000065.1:p.Gly144AspfsTer5
NM_000074.3:c.431del MANE Select NP_000065.1:p.Gly144AspfsTer5
Search 100 bp 5'
Search 100 bp 3'