{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9373472", "communityStandardTitle": [ "NM_139284.3(LGI4):c.61A>T (p.Arg21Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1314930[alleleid]", "alleleId": 1314930, "preferredName": "NM_139284.3(LGI4):c.61A>T (p.Arg21Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1324662", "RCV": [ "RCV001782382", "RCV002541202", "RCV002541201" ], "variationId": 1324662 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/19-35625524-T-A", "id": "19-35625524-T-A", "variant": "19:35625524 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.35625524T>A?assembly=hg19", "id": "chr19:g.35625524T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.35134620T>A?assembly=hg38", "id": "chr19:g.35134620T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/140614229", "rs": 140614229 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-35625524-T-A?dataset=gnomad_r2_1", "id": "19-35625524-T-A", "variant": "19:35625524 T / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-35134620-T-A?dataset=gnomad_r3", "id": "19-35134620-T-A", "variant": "19:35134620 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-35134620-T-A?dataset=gnomad_r4", "id": "19-35134620-T-A", "variant": "19:35134620 T / A" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 35134620, "referenceAllele": "T", "start": 35134619 } ], "hgvs": [ "NC_000019.10:g.35134620T>A", "CM000681.2:g.35134620T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 35625524, "referenceAllele": "T", "start": 35625523 } ], "hgvs": [ "NC_000019.9:g.35625524T>A", "CM000681.1:g.35625524T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 40317364, "referenceAllele": "T", "start": 40317363 } ], "hgvs": [ "NC_000019.8:g.40317364T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "A", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "ENST00000310123.8:c.61A>T" ], "proteinEffect": { "hgvs": "ENSP00000312273.3:p.Arg21Ter", "hgvsWellDefined": "ENSP00000312273.3:p.Arg21_Ala537delinsProProLysGlyLysCysProLeuArgCysSerCysSerLysAspSerAlaLeuCysGluGlySerProAspLeuProValSerPheSerProThrLeuLeuSerLeuSerLeuValArgThrGlyValThrGlnLeuLysAlaGlySerPheLeuArgIleProSerLeuHisLeuLeuLeuPheThrSerAsnSerPheSerValIleGluAspAspAlaPheAlaGlyLeuSerHisLeuGlnTyrLeuPheIleGluAspAsnGluIleGlySerIleSerLysAsnAlaLeuArgGlyLeuArgSerLeuThrHisLeuSerLeuAlaAsnAsnHisLeuGluThrLeuProArgPheLeuPheArgGlyLeuAspThrLeuThrHisValAspLeuArgGlyAsnProPheGlnCysAspCysArgValLeuTrpLeuLeuGlnTrpMetProThrValAsnAlaSerValGlyThrGlyAlaCysAlaGlyProAlaSerLeuSerHisMetGlnLeuHisHisLeuAspProLysThrPheLysCysArgAlaIleGluLeuSerTrpPheGlnThrValGlyGluSerAlaLeuSerValGluProPheSerTyrGlnGlyGluProHisIleValLeuAlaGlnProPheAlaGlyArgCysLeuIleLeuSerTrpAspTyrSerLeuGlnArgPheArgProGluGluGluLeuProAlaAlaSerValValSerCysLysProLeuValLeuGlyProSerLeuPheValLeuAlaAlaArgLeuTrpGlyGlySerGlnLeuTrpAlaArgProSerProGlyLeuArgLeuAlaProThrGlnThrLeuAlaProArgArgLeuLeuArgProAsnAspAlaGluLeuLeuTrpLeuGluGlyGlnProCysPheValValAlaAspAlaSerLysAlaGlySerThrThrLeuLeuCysArgAspGlyProGlyPheTyrProHisGlnSerLeuHisAlaTrpHisArgAspThrAspAlaGluAlaLeuGluLeuAspGlyArgProHisLeuLeuLeuAlaSerAlaSerGlnArgProValLeuPheHisTrpThrGlyGlyArgPheGluArgArgThrAspIleProGluAlaGluAspValTyrAlaThrArgHisPheGlnAlaGlyGlyAspValPheLeuCysLeuThrArgTyrIleGlyAspSerMetValMetArgTrpAspGlySerMetPheArgLeuLeuGlnGlnLeuProSerArgGlyAlaHisValPheGlnProLeuLeuIleAlaArgAspGlnLeuAlaIleLeuGlySerAspPheAlaPheSerGlnValLeuArgLeuGluProAspLysGlyLeuLeuGluProLeuGlnGluLeuGlyProProAlaLeuValAlaProArgAlaPheAlaHisIleThrMetAlaGlyArgArgPheLeuPheAlaAlaCysPheLysGlyProThrGlnIleTyrGlnHisHisGluIleAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745607", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310123.8:c.61A>T" }, "RefSeq": { "hgvs": "NM_139284.3:c.61A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000312273.3:p.Arg21Ter" }, "RefSeq": { "hgvs": "NP_644813.1:p.Arg21Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "A", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "ENST00000310123.7:c.61A>T" ], "proteinEffect": { "hgvs": "ENSP00000312273.3:p.Arg21Ter", "hgvsWellDefined": "ENSP00000312273.3:p.Arg21_Ala537delinsProProLysGlyLysCysProLeuArgCysSerCysSerLysAspSerAlaLeuCysGluGlySerProAspLeuProValSerPheSerProThrLeuLeuSerLeuSerLeuValArgThrGlyValThrGlnLeuLysAlaGlySerPheLeuArgIleProSerLeuHisLeuLeuLeuPheThrSerAsnSerPheSerValIleGluAspAspAlaPheAlaGlyLeuSerHisLeuGlnTyrLeuPheIleGluAspAsnGluIleGlySerIleSerLysAsnAlaLeuArgGlyLeuArgSerLeuThrHisLeuSerLeuAlaAsnAsnHisLeuGluThrLeuProArgPheLeuPheArgGlyLeuAspThrLeuThrHisValAspLeuArgGlyAsnProPheGlnCysAspCysArgValLeuTrpLeuLeuGlnTrpMetProThrValAsnAlaSerValGlyThrGlyAlaCysAlaGlyProAlaSerLeuSerHisMetGlnLeuHisHisLeuAspProLysThrPheLysCysArgAlaIleGluLeuSerTrpPheGlnThrValGlyGluSerAlaLeuSerValGluProPheSerTyrGlnGlyGluProHisIleValLeuAlaGlnProPheAlaGlyArgCysLeuIleLeuSerTrpAspTyrSerLeuGlnArgPheArgProGluGluGluLeuProAlaAlaSerValValSerCysLysProLeuValLeuGlyProSerLeuPheValLeuAlaAlaArgLeuTrpGlyGlySerGlnLeuTrpAlaArgProSerProGlyLeuArgLeuAlaProThrGlnThrLeuAlaProArgArgLeuLeuArgProAsnAspAlaGluLeuLeuTrpLeuGluGlyGlnProCysPheValValAlaAspAlaSerLysAlaGlySerThrThrLeuLeuCysArgAspGlyProGlyPheTyrProHisGlnSerLeuHisAlaTrpHisArgAspThrAspAlaGluAlaLeuGluLeuAspGlyArgProHisLeuLeuLeuAlaSerAlaSerGlnArgProValLeuPheHisTrpThrGlyGlyArgPheGluArgArgThrAspIleProGluAlaGluAspValTyrAlaThrArgHisPheGlnAlaGlyGlyAspValPheLeuCysLeuThrArgTyrIleGlyAspSerMetValMetArgTrpAspGlySerMetPheArgLeuLeuGlnGlnLeuProSerArgGlyAlaHisValPheGlnProLeuLeuIleAlaArgAspGlnLeuAlaIleLeuGlySerAspPheAlaPheSerGlnValLeuArgLeuGluProAspLysGlyLeuLeuGluProLeuGlnGluLeuGlyProProAlaLeuValAlaProArgAlaPheAlaHisIleThrMetAlaGlyArgArgPheLeuPheAlaAlaCysPheLysGlyProThrGlnIleTyrGlnHisHisGluIleAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256318" }, { "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "A", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "ENST00000392225.7:c.61A>T" ], "proteinEffect": { "hgvs": "ENSP00000376059.3:p.Arg21Ter", "hgvsWellDefined": "ENSP00000376059.3:p.Arg21_Ser494delinsProProLysGlyLysCysProLeuArgCysSerCysSerLysAspSerAlaLeuCysGluGlySerProAspLeuProValSerPheSerProThrLeuLeuSerLeuSerLeuValArgThrGlyValThrGlnLeuLysAlaGlySerPheLeuArgIleProSerLeuHisLeuLeuLeuPheThrSerAsnSerPheSerValIleGluAspAspAlaPheAlaGlyLeuSerHisLeuGlnTyrLeuPheIleGluAspAsnGluIleGlySerIleSerLysAsnAlaLeuArgGlyLeuArgSerLeuThrHisLeuSerLeuAlaAsnAsnHisLeuGluThrLeuProArgPheLeuPheArgGlyLeuAspThrLeuThrHisValAspLeuArgGlyAsnProPheGlnCysAspCysArgValLeuTrpLeuLeuGlnTrpMetProThrValAsnAlaSerValGlyThrGlyAlaCysAlaGlyProAlaSerLeuSerHisMetGlnLeuHisHisLeuAspProLysThrPheLysCysArgAlaIleGluLeuSerTrpPheGlnThrValGlyGluSerAlaLeuSerValGluProPheSerTyrGlnGlyGluProHisIleValLeuAlaGlnProPheAlaGlyArgCysLeuIleLeuSerTrpAspTyrSerLeuGlnArgPheArgProGluGluGluLeuProGlyGluProProProArgProSerAlaCysProAlaAlaCysLeuAlaGlyLeuThrCysLeuProThrSerProGlnArgProProTrpCysProAlaSerHisTrpCysTrpAlaArgAlaSerSerCysTrpLeuProAlaCysGlyGlyAlaHisSerCysGlyProGlyProValProAlaCysAlaTrpProGlnArgArgProTrpProArgGlyGlyCysCysGlyProMetThrProSerSerCysGlyTrpLysGlyAsnProAlaSerTrpTrpProMetProProArgArgAlaAlaProArgCysCysAlaAlaThrGlyProAlaPheThrArgThrArgAlaCysThrProGlyThrGlyThrArgThrLeuArgProTrpSerTrpThrAlaGlyProThrCysCysTrpProArgLeuProSerGlyProCysSerSerThrGlyProValAlaAlaSerArgAspAlaGlnThrSerProArgProArgMetSerMetProHisAlaThrSerArgLeuValGlyThrCysSerCysAlaSerHisAlaThrLeuGlyThrProTrpSerCysAlaGlyThrAlaProCysPheValCysCysSerAsnPheProArgAlaValProThrSerSerSerHisCysSerSerProGlyThrSerTrpProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274983" }, { "coordinates": [ { "allele": "T", "end": 19, "referenceAllele": "A", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "ENST00000473160.6:n.19A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS314978" }, { "coordinates": [ { "allele": "T", "end": 182, "endIntronDirection": "-", "endIntronOffset": 62, "referenceAllele": "A", "start": 182, "startIntronDirection": "-", "startIntronOffset": 63 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "ENST00000493050.5:n.183-63A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS330289" }, { "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "A", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "ENST00000591633.2:c.61A>T" ], "proteinEffect": { "hgvs": "ENSP00000467784.1:p.Arg21Ter", "hgvsWellDefined": "ENSP00000467784.1:p.Arg21_Leu261delinsProProLysGlyLysCysProLeuArgCysSerCysSerLysAspSerAlaLeuCysGluGlySerProAspLeuProValSerPheSerProThrLeuLeuSerLeuSerLeuValArgThrGlyValThrGlnLeuLysAlaGlySerPheLeuArgIleProSerLeuHisLeuLeuLeuPheThrSerAsnSerPheSerValIleGluAspAspAlaPheAlaGlyLeuSerHisLeuGlnTyrLeuPheIleGluAspAsnGluIleGlySerIleSerLysAsnAlaLeuArgGlyLeuArgSerLeuThrHisLeuSerLeuAlaAsnAsnHisLeuGluThrLeuProArgPheLeuPheArgGlyLeuAspThrLeuThrHisValAspLeuArgGlyAsnProPheGlnCysAspCysArgValLeuTrpLeuLeuGlnTrpMetProThrValAsnAlaSerValGlyThrGlyAlaCysAlaGlyProAlaSerLeuSerHisMetGlnLeuHisHisLeuAspProLysThrPheLysCysArgAlaIleGlyGlyGlyLeuSerArgTrpGlyGlyArgArgGluIleTrpGlyLysGlyCysGlnGlyGlnGluAlaArgLeuThrProCysProAlaIleSerArgSerGlyLysThrLeuSerLysGlnHisCysLeuProGluProGlnPheSerHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS393006" }, { "coordinates": [ { "allele": "T", "end": 24, "referenceAllele": "A", "start": 23 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "ENST00000591840.5:n.24A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393162" }, { "coordinates": [ { "allele": "T", "end": 9, "referenceAllele": "A", "start": 8 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "ENST00000592346.1:n.9A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS393504" }, { "@id": "http://reg.genome.network/allele/PA2573099031", "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "A", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "NM_139284.2:c.61A>T" ], "proteinEffect": { "hgvs": "NP_644813.1:p.Arg21Ter", "hgvsWellDefined": "NP_644813.1:p.Arg21_Ala537delinsProProLysGlyLysCysProLeuArgCysSerCysSerLysAspSerAlaLeuCysGluGlySerProAspLeuProValSerPheSerProThrLeuLeuSerLeuSerLeuValArgThrGlyValThrGlnLeuLysAlaGlySerPheLeuArgIleProSerLeuHisLeuLeuLeuPheThrSerAsnSerPheSerValIleGluAspAspAlaPheAlaGlyLeuSerHisLeuGlnTyrLeuPheIleGluAspAsnGluIleGlySerIleSerLysAsnAlaLeuArgGlyLeuArgSerLeuThrHisLeuSerLeuAlaAsnAsnHisLeuGluThrLeuProArgPheLeuPheArgGlyLeuAspThrLeuThrHisValAspLeuArgGlyAsnProPheGlnCysAspCysArgValLeuTrpLeuLeuGlnTrpMetProThrValAsnAlaSerValGlyThrGlyAlaCysAlaGlyProAlaSerLeuSerHisMetGlnLeuHisHisLeuAspProLysThrPheLysCysArgAlaIleGluLeuSerTrpPheGlnThrValGlyGluSerAlaLeuSerValGluProPheSerTyrGlnGlyGluProHisIleValLeuAlaGlnProPheAlaGlyArgCysLeuIleLeuSerTrpAspTyrSerLeuGlnArgPheArgProGluGluGluLeuProAlaAlaSerValValSerCysLysProLeuValLeuGlyProSerLeuPheValLeuAlaAlaArgLeuTrpGlyGlySerGlnLeuTrpAlaArgProSerProGlyLeuArgLeuAlaProThrGlnThrLeuAlaProArgArgLeuLeuArgProAsnAspAlaGluLeuLeuTrpLeuGluGlyGlnProCysPheValValAlaAspAlaSerLysAlaGlySerThrThrLeuLeuCysArgAspGlyProGlyPheTyrProHisGlnSerLeuHisAlaTrpHisArgAspThrAspAlaGluAlaLeuGluLeuAspGlyArgProHisLeuLeuLeuAlaSerAlaSerGlnArgProValLeuPheHisTrpThrGlyGlyArgPheGluArgArgThrAspIleProGluAlaGluAspValTyrAlaThrArgHisPheGlnAlaGlyGlyAspValPheLeuCysLeuThrArgTyrIleGlyAspSerMetValMetArgTrpAspGlySerMetPheArgLeuLeuGlnGlnLeuProSerArgGlyAlaHisValPheGlnProLeuLeuIleAlaArgAspGlnLeuAlaIleLeuGlySerAspPheAlaPheSerGlnValLeuArgLeuGluProAspLysGlyLeuLeuGluProLeuGlnGluLeuGlyProProAlaLeuValAlaProArgAlaPheAlaHisIleThrMetAlaGlyArgArgPheLeuPheAlaAlaCysPheLysGlyProThrGlnIleTyrGlnHisHisGluIleAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041053" }, { "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "A", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "XM_011526594.1:c.61A>T" ], "proteinEffect": { "hgvs": "XP_011524896.1:p.Arg21Ter", "hgvsWellDefined": "XP_011524896.1:p.Arg21_Ala537delinsProProLysGlyLysCysProLeuArgCysSerCysSerLysAspSerAlaLeuCysGluGlySerProAspLeuProValSerPheSerProThrLeuLeuSerLeuSerLeuValArgThrGlyValThrGlnLeuLysAlaGlySerPheLeuArgIleProSerLeuHisLeuLeuLeuPheThrSerAsnSerPheSerValIleGluAspAspAlaPheAlaGlyLeuSerHisLeuGlnTyrLeuPheIleGluAspAsnGluIleGlySerIleSerLysAsnAlaLeuArgGlyLeuArgSerLeuThrHisLeuSerLeuAlaAsnAsnHisLeuGluThrLeuProArgPheLeuPheArgGlyLeuAspThrLeuThrHisValAspLeuArgGlyAsnProPheGlnCysAspCysArgValLeuTrpLeuLeuGlnTrpMetProThrValAsnAlaSerValGlyThrGlyAlaCysAlaGlyProAlaSerLeuSerHisMetGlnLeuHisHisLeuAspProLysThrPheLysCysArgAlaIleGluLeuSerTrpPheGlnThrValGlyGluSerAlaLeuSerValGluProPheSerTyrGlnGlyGluProHisIleValLeuAlaGlnProPheAlaGlyArgCysLeuIleLeuSerTrpAspTyrSerLeuGlnArgPheArgProGluGluGluLeuProAlaAlaSerValValSerCysLysProLeuValLeuGlyProSerLeuPheValLeuAlaAlaArgLeuTrpGlyGlySerGlnLeuTrpAlaArgProSerProGlyLeuArgLeuAlaProThrGlnThrLeuAlaProArgArgLeuLeuArgProAsnAspAlaGluLeuLeuTrpLeuGluGlyGlnProCysPheValValAlaAspAlaSerLysAlaGlySerThrThrLeuLeuCysArgAspGlyProGlyPheTyrProHisGlnSerLeuHisAlaTrpHisArgAspThrAspAlaGluAlaLeuGluLeuAspGlyArgProHisLeuLeuLeuAlaSerAlaSerGlnArgProValLeuPheHisTrpThrGlyGlyArgPheGluArgArgThrAspIleProGluAlaGluAspValTyrAlaThrArgHisPheGlnAlaGlyGlyAspValPheLeuCysLeuThrArgTyrIleGlyAspSerMetValMetArgTrpAspGlySerMetPheArgLeuLeuGlnGlnLeuProSerArgGlyAlaHisValPheGlnProLeuLeuIleAlaArgAspGlnLeuAlaIleLeuGlySerAspPheAlaPheSerGlnValLeuArgLeuGluProAspLysGlyLeuLeuGluProLeuGlnGluLeuGlyProProAlaLeuValAlaProArgAlaPheAlaHisIleThrMetAlaGlyArgArgPheLeuPheAlaAlaCysPheLysGlyProThrGlnIleTyrGlnHisHisGluIleAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093696" }, { "coordinates": [ { "allele": "T", "end": 9, "referenceAllele": "A", "start": 8 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "XM_011526595.1:c.-583A>T" ], "proteinEffect": { "hgvs": "XP_011524897.1:n.-583A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS093697" }, { "coordinates": [ { "allele": "T", "end": 5, "referenceAllele": "A", "start": 4 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "XM_011526595.2:c.-583A>T" ], "proteinEffect": { "hgvs": "XP_011524897.1:n.-583A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS548326" }, { "@id": "http://reg.genome.network/allele/PA2573099031", "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "A", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN018712", "geneNCBI_id": 163175, "geneSymbol": "LGI4", "hgvs": [ "NM_139284.3:c.61A>T" ], "proteinEffect": { "hgvs": "NP_644813.1:p.Arg21Ter", "hgvsWellDefined": "NP_644813.1:p.Arg21_Ala537delinsProProLysGlyLysCysProLeuArgCysSerCysSerLysAspSerAlaLeuCysGluGlySerProAspLeuProValSerPheSerProThrLeuLeuSerLeuSerLeuValArgThrGlyValThrGlnLeuLysAlaGlySerPheLeuArgIleProSerLeuHisLeuLeuLeuPheThrSerAsnSerPheSerValIleGluAspAspAlaPheAlaGlyLeuSerHisLeuGlnTyrLeuPheIleGluAspAsnGluIleGlySerIleSerLysAsnAlaLeuArgGlyLeuArgSerLeuThrHisLeuSerLeuAlaAsnAsnHisLeuGluThrLeuProArgPheLeuPheArgGlyLeuAspThrLeuThrHisValAspLeuArgGlyAsnProPheGlnCysAspCysArgValLeuTrpLeuLeuGlnTrpMetProThrValAsnAlaSerValGlyThrGlyAlaCysAlaGlyProAlaSerLeuSerHisMetGlnLeuHisHisLeuAspProLysThrPheLysCysArgAlaIleGluLeuSerTrpPheGlnThrValGlyGluSerAlaLeuSerValGluProPheSerTyrGlnGlyGluProHisIleValLeuAlaGlnProPheAlaGlyArgCysLeuIleLeuSerTrpAspTyrSerLeuGlnArgPheArgProGluGluGluLeuProAlaAlaSerValValSerCysLysProLeuValLeuGlyProSerLeuPheValLeuAlaAlaArgLeuTrpGlyGlySerGlnLeuTrpAlaArgProSerProGlyLeuArgLeuAlaProThrGlnThrLeuAlaProArgArgLeuLeuArgProAsnAspAlaGluLeuLeuTrpLeuGluGlyGlnProCysPheValValAlaAspAlaSerLysAlaGlySerThrThrLeuLeuCysArgAspGlyProGlyPheTyrProHisGlnSerLeuHisAlaTrpHisArgAspThrAspAlaGluAlaLeuGluLeuAspGlyArgProHisLeuLeuLeuAlaSerAlaSerGlnArgProValLeuPheHisTrpThrGlyGlyArgPheGluArgArgThrAspIleProGluAlaGluAspValTyrAlaThrArgHisPheGlnAlaGlyGlyAspValPheLeuCysLeuThrArgTyrIleGlyAspSerMetValMetArgTrpAspGlySerMetPheArgLeuLeuGlnGlnLeuProSerArgGlyAlaHisValPheGlnProLeuLeuIleAlaArgAspGlnLeuAlaIleLeuGlySerAspPheAlaPheSerGlnValLeuArgLeuGluProAspLysGlyLeuLeuGluProLeuGlnGluLeuGlyProProAlaLeuValAlaProArgAlaPheAlaHisIleThrMetAlaGlyArgArgPheLeuPheAlaAlaCysPheLysGlyProThrGlnIleTyrGlnHisHisGluIleAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672009", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310123.8:c.61A>T" }, "RefSeq": { "hgvs": "NM_139284.3:c.61A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000312273.3:p.Arg21Ter" }, "RefSeq": { "hgvs": "NP_644813.1:p.Arg21Ter" } } } } ], "type": "nucleotide" }