Canonical Allele Identifier: CA2695236806
Gene: CD40LG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659411_136659417del , CM000685.2:g.136659411_136659417del GRCh38
NC_000023.10:g.135741570_135741576del , CM000685.1:g.135741570_135741576del GRCh37
NC_000023.9:g.135569236_135569242del NCBI36
NG_007280.1:g.16235_16241del , LRG_141:g.16235_16241del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*400_*406del ENSP00000512122.1:n.*400_*406del
ENST00000695725.1:c.*337_*343del ENSP00000512123.1:n.*337_*343del
ENST00000695726.1:n.2750_2756del
ENST00000695729.1:n.3585_3591del
ENST00000370629.7:c.782_*2del MANE Select ENSP00000359663.2:n.[c.782_*2del;Leu261GlnfsTer?]
ENST00000370628.2:c.719_*2del ENSP00000359662.2:n.[c.719_*2del;Leu240GlnfsTer?]
ENST00000370629.6:c.782_*2del ENSP00000359663.2:n.[c.782_*2del;Leu261GlnfsTer?]
NM_000074.2:c.782_*2del , LRG_141t1:c.782_*2del NP_000065.1:n.[c.782_*2del;Leu261GlnfsTer?]
NM_000074.3:c.782_*2del MANE Select NP_000065.1:n.[c.782_*2del;Leu261GlnfsTer?]