Canonical Allele Identifier: CA2695236776
Gene: CD40LG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659149del , CM000685.2:g.136659149del GRCh38
NC_000023.10:g.135741308del , CM000685.1:g.135741308del GRCh37
NC_000023.9:g.135568974del NCBI36
NG_007280.1:g.15973del , LRG_141:g.15973del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*138del ENSP00000512122.1:n.*138del
ENST00000695725.1:c.*75del ENSP00000512123.1:n.*75del
ENST00000695726.1:n.2488del
ENST00000695729.1:n.3323del
ENST00000370629.7:c.520del MANE Select ENSP00000359663.2:p.Gln174LysfsTer17
ENST00000370628.2:c.457del ENSP00000359662.2:p.Gln153LysfsTer17
ENST00000370629.6:c.520del ENSP00000359663.2:p.Gln174LysfsTer17
NM_000074.2:c.520del , LRG_141t1:c.520del NP_000065.1:p.Gln174LysfsTer17
NM_000074.3:c.520del MANE Select NP_000065.1:p.Gln174LysfsTer17