Canonical Allele Identifier: CA915952040
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 656661
ClinVar RCV Id: RCV000813133
dbSNP Id: rs1603321765
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659137_136659139del , CM000685.2:g.136659137_136659139del GRCh38
NC_000023.10:g.135741296_135741298del , CM000685.1:g.135741296_135741298del GRCh37
NC_000023.9:g.135568962_135568964del NCBI36
NG_007280.1:g.15961_15963del , LRG_141:g.15961_15963del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*126_*128del ENSP00000512122.1:n.*126_*128del
ENST00000695725.1:c.*63_*65del ENSP00000512123.1:n.*63_*65del
ENST00000695726.1:n.2476_2478del
ENST00000695729.1:n.3311_3313del
ENST00000370629.7:c.508_510del MANE Select ENSP00000359663.2:p.Tyr170del
ENST00000370628.2:c.445_447del ENSP00000359662.2:p.Tyr149del
ENST00000370629.6:c.508_510del ENSP00000359663.2:p.Tyr170del
NM_000074.2:c.508_510del , LRG_141t1:c.508_510del NP_000065.1:p.Tyr170del
NM_000074.3:c.508_510del MANE Select NP_000065.1:p.Tyr170del
Search 100 bp 5'
Search 100 bp 3'