Canonical Allele Identifier: CA16621607
Gene: LGI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424959
ClinVar RCV Id: RCV000487910
dbSNP Id: rs1064797149

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793200del , CM000672.2:g.93793200del GRCh38
NC_000010.10:g.95552957del , CM000672.1:g.95552957del GRCh37
NC_000010.9:g.95542947del NCBI36
NG_011832.1:g.40392del

Transcript Alleles

HGVS Amino-acid change
ENST00000371418.9:c.688del MANE Select ENSP00000360472.4:p.Gln230LysfsTer10
ENST00000485458.3:n.4664del
ENST00000635953.1:c.688del ENSP00000490058.1:p.Gln230LysfsTer10
ENST00000636155.1:c.688del ENSP00000490355.1:p.Gln230LysfsTer10
ENST00000636232.1:c.*474del ENSP00000490325.1:n.*474del
ENST00000636754.1:c.*530del ENSP00000489781.1:n.*530del
ENST00000636946.1:c.*857del ENSP00000490654.1:n.*857del
ENST00000637037.1:c.*278del ENSP00000490860.1:n.*278del
ENST00000637347.1:n.549del
ENST00000637611.1:c.*244del ENSP00000489682.1:n.*244del
ENST00000637689.1:c.-684del ENSP00000490496.1:n.-684del
ENST00000637925.1:c.*283del ENSP00000489763.1:n.*283del
ENST00000638049.1:c.*446del ENSP00000490597.1:n.*446del
ENST00000676175.1:n.2427del
ENST00000371413.4:c.688del ENSP00000360467.3:p.Gln230LysfsTer10
ENST00000371418.8:c.688del ENSP00000360472.4:p.Gln230LysfsTer10
ENST00000626307.1:n.4603del
ENST00000626946.1:n.358del
ENST00000627420.2:c.*397del ENSP00000487116.1:n.*397del
ENST00000629035.2:c.616del ENSP00000486908.1:p.Gln206LysfsTer10
ENST00000630047.2:c.544del ENSP00000485917.1:p.Gln182LysfsTer10
ENST00000630412.1:n.476del
ENST00000630487.2:c.*478del ENSP00000486859.1:n.*478del
NM_001308275.1:c.688del NP_001295204.1:p.Gln230LysfsTer10
NM_001308276.1:c.544del NP_001295205.1:p.Gln182LysfsTer10
NM_005097.2:c.688del NP_005088.1:p.Gln230LysfsTer10
NM_005097.3:c.688del NP_005088.1:p.Gln230LysfsTer10
NR_131777.1:n.952del
XM_017016911.2:c.688del XP_016872400.1:p.Gln230LysfsTer10
XM_017016912.2:c.544del XP_016872401.1:p.Gln182LysfsTer10
NM_005097.4:c.688del MANE Select NP_005088.1:p.Gln230LysfsTer10
NM_001308275.2:c.688del NP_001295204.1:p.Gln230LysfsTer10
NM_001308276.2:c.544del NP_001295205.1:p.Gln182LysfsTer10
NR_131777.2:n.825del