Canonical Allele Identifier: CA2695236787
Gene: CD40LG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659223del , CM000685.2:g.136659223del GRCh38
NC_000023.10:g.135741382del , CM000685.1:g.135741382del GRCh37
NC_000023.9:g.135569048del NCBI36
NG_007280.1:g.16047del , LRG_141:g.16047del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*212del ENSP00000512122.1:n.*212del
ENST00000695725.1:c.*149del ENSP00000512123.1:n.*149del
ENST00000695726.1:n.2562del
ENST00000695729.1:n.3397del
ENST00000370629.7:c.594del MANE Select ENSP00000359663.2:p.Gly199ValfsTer?
ENST00000370628.2:c.531del ENSP00000359662.2:p.Gly178ValfsTer?
ENST00000370629.6:c.594del ENSP00000359663.2:p.Gly199ValfsTer?
NM_000074.2:c.594del , LRG_141t1:c.594del NP_000065.1:p.Gly199ValfsTer?
NM_000074.3:c.594del MANE Select NP_000065.1:p.Gly199ValfsTer?