Canonical Allele Identifier: CA913182977
Gene: CD40LG HGNC NCBI

Linked Data

dbSNP Id: rs2076127246
MyVariant Identifiers: chrX:g.135741339_135741350del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659181_136659192del , CM000685.2:g.136659181_136659192del GRCh38
NC_000023.10:g.135741340_135741351del , CM000685.1:g.135741340_135741351del GRCh37
NC_000023.9:g.135569006_135569017del NCBI36
NG_007280.1:g.16005_16016del , LRG_141:g.16005_16016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*170_*181del ENSP00000512122.1:n.*170_*181del
ENST00000695725.1:c.*107_*118del ENSP00000512123.1:n.*107_*118del
ENST00000695726.1:n.2520_2531del
ENST00000695729.1:n.3355_3366del
ENST00000370629.7:c.552_563del MANE Select ENSP00000359663.2:p.Ser185_Pro188del
ENST00000370628.2:c.489_500del ENSP00000359662.2:p.Ser164_Pro167del
ENST00000370629.6:c.552_563del ENSP00000359663.2:p.Ser185_Pro188del
NM_000074.2:c.552_563del , LRG_141t1:c.552_563del NP_000065.1:p.Ser185_Pro188del
NM_000074.3:c.552_563del MANE Select NP_000065.1:p.Ser185_Pro188del
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