Canonical Allele Identifier: CA2695236804
Gene: CD40LG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659389del , CM000685.2:g.136659389del GRCh38
NC_000023.10:g.135741548del , CM000685.1:g.135741548del GRCh37
NC_000023.9:g.135569214del NCBI36
NG_007280.1:g.16213del , LRG_141:g.16213del

Transcript Alleles

HGVS Amino-acid change
ENST00000695724.1:c.*378del ENSP00000512122.1:n.*378del
ENST00000695725.1:c.*315del ENSP00000512123.1:n.*315del
ENST00000695726.1:n.2728del
ENST00000695729.1:n.3563del
ENST00000370629.7:c.760del MANE Select ENSP00000359663.2:p.Thr254ArgfsTer?
ENST00000370628.2:c.697del ENSP00000359662.2:p.Thr233ArgfsTer?
ENST00000370629.6:c.760del ENSP00000359663.2:p.Thr254ArgfsTer?
NM_000074.2:c.760del , LRG_141t1:c.760del NP_000065.1:p.Thr254ArgfsTer?
NM_000074.3:c.760del MANE Select NP_000065.1:p.Thr254ArgfsTer?