Canonical Allele Identifier: CA347447
Community Standard Title: NM_005097.4(LGI1):c.758del (p.Ala253ValfsTer?)
Gene: LGI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93793270del , CM000672.2:g.93793270del GRCh38
NC_000010.10:g.95553027del , CM000672.1:g.95553027del GRCh37
NC_000010.9:g.95543017del NCBI36
NG_011832.1:g.40462del

Transcript Alleles

HGVS Amino-acid Change
NM_005097.4:c.758del MANE Select NP_005088.1:p.Ala253ValfsTer?
ENST00000371418.9:c.758del MANE Select ENSP00000360472.4:p.Ala253ValfsTer?
NM_001308275.1:c.758del NP_001295204.1:p.Ala253ValfsTer29
NM_001308275.2:c.758del NP_001295204.1:p.Ala253ValfsTer29
NM_001308276.1:c.614del NP_001295205.1:p.Ala205ValfsTer?
NM_001308276.2:c.614del NP_001295205.1:p.Ala205ValfsTer?
NM_005097.2:c.758del NP_005088.1:p.Ala253ValfsTer?
NM_005097.3:c.758del NP_005088.1:p.Ala253ValfsTer?
NR_131777.1:n.1022del
NR_131777.2:n.895del
ENST00000371413.4:c.758del ENSP00000360467.3:p.Ala253ValfsTer29
ENST00000371418.8:c.758del ENSP00000360472.4:p.Ala253ValfsTer?
ENST00000485458.3:n.4734del
ENST00000626307.1:n.4673del
ENST00000626946.1:n.428del
ENST00000627420.2:c.*467del ENSP00000487116.1:n.*467del
ENST00000629035.2:c.686del ENSP00000486908.1:p.Ala229ValfsTer?
ENST00000630047.2:c.614del ENSP00000485917.1:p.Ala205ValfsTer?
ENST00000630412.1:n.546del
ENST00000630487.2:c.*548del ENSP00000486859.1:n.*548del
ENST00000635953.1:c.758del ENSP00000490058.1:p.Ala253ValfsTer?
ENST00000636155.1:c.758del ENSP00000490355.1:p.Ala253ValfsTer?
ENST00000636232.1:c.*544del ENSP00000490325.1:n.*544del
ENST00000636754.1:c.*600del ENSP00000489781.1:n.*600del
ENST00000636946.1:c.*927del ENSP00000490654.1:n.*927del
ENST00000637037.1:c.*348del ENSP00000490860.1:n.*348del
ENST00000637347.1:n.619del
ENST00000637611.1:c.*314del ENSP00000489682.1:n.*314del
ENST00000637689.1:c.-614del ENSP00000490496.1:n.-614del
ENST00000637925.1:c.*353del ENSP00000489763.1:n.*353del
ENST00000638049.1:c.*516del ENSP00000490597.1:n.*516del
ENST00000676175.1:n.2497del
XM_017016911.2:c.758del XP_016872400.1:p.Ala253ValfsTer?
XM_017016912.2:c.614del XP_016872401.1:p.Ala205ValfsTer29