Canonical Allele Identifier: CA2695236771
Gene: CD40LG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659140_136659141del , CM000685.2:g.136659140_136659141del GRCh38
NC_000023.10:g.135741299_135741300del , CM000685.1:g.135741299_135741300del GRCh37
NC_000023.9:g.135568965_135568966del NCBI36
NG_007280.1:g.15964_15965del , LRG_141:g.15964_15965del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*129_*130del ENSP00000512122.1:n.*129_*130del
ENST00000695725.1:c.*66_*67del ENSP00000512123.1:n.*66_*67del
ENST00000695726.1:n.2479_2480del
ENST00000695729.1:n.3314_3315del
ENST00000370629.7:c.511_512del MANE Select ENSP00000359663.2:p.Ile171LeufsTer29
ENST00000370628.2:c.448_449del ENSP00000359662.2:p.Ile150LeufsTer29
ENST00000370629.6:c.511_512del ENSP00000359663.2:p.Ile171LeufsTer29
NM_000074.2:c.511_512del , LRG_141t1:c.511_512del NP_000065.1:p.Ile171LeufsTer29
NM_000074.3:c.511_512del MANE Select NP_000065.1:p.Ile171LeufsTer29