{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7535624", "communityStandardTitle": [ "NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=482070[alleleid]", "alleleId": 482070, "preferredName": "NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488833", "RCV": [ "RCV000578726", "RCV000763352", "RCV000642546", "RCV001848979", "RCV002467902", "RCV002467901" ], "variationId": 488833 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-44944060-C-T", "id": "15-44944060-C-T", "variant": "15:44944060 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44944060C>T?assembly=hg19", "id": "chr15:g.44944060C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44651862C>T?assembly=hg38", "id": 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"referenceAllele": "C", "start": 44944059 } ], "hgvs": [ "NC_000015.9:g.44944060C>T", "CM000677.1:g.44944060C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 42731352, "referenceAllele": "C", "start": 42731351 } ], "hgvs": [ "NC_000015.8:g.42731352C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 16817, "referenceAllele": "G", "start": 16816 } ], "hgvs": [ "NG_008885.1:g.16817G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001280" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559511.6:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000453246.2:p.Trp362Ter" }, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827450" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682495.1:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000507166.1:p.Trp362Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827485" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "G", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682648.1:n.1030G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827637" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682669.1:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000507782.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS827658" }, { "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682788.1:c.1085G>A" ], "proteinEffect": { "hgvs": 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"ENSP00000507493.1:p.Trp362_Leu1197delinsPheGlnAspIleLeuHisLeuGluSerProGluSerGlyAsnHisSerThrSerValGlnSerTrpAlaPheIleProGlnAspIleMetHisGlyGlnTyrAsnValLeuGlnLysAspHisAlaLysThrSerAspProGlyArgSerTrpLysIleMetHisIleSerGluGlnGluGluProIleGluLeuLysCysValSerValThrGlyPheThrAlaLeuPheThrTrpGluValGluArgMetGlyTyrThrIleThrLeuTrpAspLeuGluThrGlnGlyMetGlnCysPheSerLeuGlyThrLysCysIleProValAspSerSerGlyAspGlnGlnLeuCysPheValLeuThrGluAsnGlyLeuSerLeuIleLeuPheGlyLeuThrGlnGluGluPheLeuAsnArgLeuMetIleHisGlySerAlaSerThrValAspThrLeuCysHisLeuAsnGlyTrpGlyArgCysSerIleProIleHisAlaLeuGluAlaGlyIleGluAsnArgGlnLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyGlyIleArgSerGlnCysGluLysSerLeuGluPheHisGluLysThrGlnLeuTyrPheArgAsnLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827903" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683121.1:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000507557.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828106" }, { "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683186.1:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000507268.1:p.Trp362Ter", "hgvsWellDefined": "ENSP00000507268.1:p.Trp362_Gly1020delinsPheGlnAspIleLeuHisLeuGluSerProGluSerGlyAsnHisSerThrSerValGlnSerTrpAlaPheIleProGlnAspIleMetHisGlyGlnTyrAsnValLeuGlnLysAspHisAlaLysThrSerAspProGlyArgSerTrpLysIleMetHisIleSerGluGlnGluGluProIleGluLeuLysCysValSerValThrGlyPheThrAlaLeuPheThrTrpGluValGluArgMetGlyTyrThrIleThrLeuTrpAspLeuGluThrGlnGlyMetGlnCysPheSerLeuGlyThrLysCysIleProValAspSerSerGlyAspGlnGlnLeuCysPheValLeuThrGluAsnGlyLeuSerLeuIleLeuPheGlyLeuThrGlnGluGluPheLeuAsnArgLeuMetIleHisGlySerAlaSerThrValAspThrLeuCysHisLeuAsnGlyTrpGlyArgCysSerIleProIleHisAlaLeuGluAlaGlyIleGluAsnArgGlnLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysSerGlnThrAspLeuProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828169" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683255.1:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000508340.1:p.Trp362Ter", "hgvsWellDefined": "ENSP00000508340.1:p.Trp362_Gly1020delinsPheGlnAspIleLeuHisLeuGluSerProGluSerGlyAsnHisSerThrSerValGlnSerTrpAlaPheIleProGlnAspIleMetHisGlyGlnTyrAsnValLeuGlnLysAspHisAlaLysThrSerAspProGlyArgSerTrpLysIleMetHisIleSerGluGlnGluGluProIleGluLeuLysCysValSerValThrGlyPheThrAlaLeuPheThrTrpGluValGluArgMetGlyTyrThrIleThrLeuTrpAspLeuGluThrGlnGlyMetGlnCysPheSerLeuGlyThrLysCysIleProValAspSerSerGlyAspGlnGlnLeuCysPheValLeuThrGluAsnGlyLeuSerLeuIleLeuPheGlyLeuThrGlnGluGluPheLeuAsnArgLeuMetIleHisGlySerAlaSerThrValAspThrLeuCysHisLeuAsnGlyTrpGlyArgCysSerIleProIleHisAlaLeuGluAlaGlyIleGluAsnArgGlnLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysSerGlnThrAspLeuProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828237" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683496.1:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000506968.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828470" }, { "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683573.1:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000508031.1:p.Trp362Ter", "hgvsWellDefined": "ENSP00000508031.1:p.Trp362_Cys949delinsPheGlnAspIleLeuHisLeuGluSerProGluSerGlyAsnHisSerThrSerValGlnSerTrpAlaPheIleProGlnAspIleMetHisGlyGlnTyrAsnValLeuGlnLysAspHisAlaLysThrSerAspProGlyArgSerTrpLysIleMetHisIleSerGluGlnGluGluProIleGluLeuLysCysValSerValThrGlyPheThrAlaLeuPheThrTrpGluValGluArgMetGlyTyrThrIleThrLeuTrpAspLeuGluThrGlnGlyMetGlnCysPheSerLeuGlyThrLysCysIleProValAspSerSerGlyAspGlnGlnLeuCysPheValLeuThrGluAsnGlyLeuSerLeuIleLeuPheGlyLeuThrGlnGluGluPheLeuAsnArgLeuMetIleHisGlySerAlaSerThrValAspThrLeuCysHisLeuAsnGlyTrpGlyArgCysSerIleProIleHisAlaLeuGluAlaGlyIleGluAsnArgGlnLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgTyrTyrAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828546" }, { "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683734.1:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000508319.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828705" }, { "coordinates": [ { "allele": "A", "end": 209, "referenceAllele": "G", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683753.1:n.209G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828724" }, { "coordinates": [ { "allele": "A", "end": 848, "referenceAllele": "G", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684038.1:c.827G>A" ], "proteinEffect": { "hgvs": "ENSP00000507141.1:p.Trp276Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828999" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684235.1:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000508295.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS829192" }, { "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684490.1:n.1100G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829444" }, { "coordinates": [ { "allele": "A", "end": 1126, "referenceAllele": "G", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684676.1:c.1085G>A" ], "proteinEffect": { "hgvs": 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"proteinEffect": { "hgvs": "ENSP00000261866.7:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS250869" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000427534.6:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000396110.2:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289750" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000535302.6:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000445278.2:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS359651" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558319.5:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000453599.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS373709" }, { "coordinates": [ { "allele": "A", "end": 1096, "referenceAllele": "G", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559193.5:c.1085G>A" ], "proteinEffect": { "hgvs": "ENSP00000453848.1:p.Trp362Ter", "hgvsWellDefined": "ENSP00000453848.1:p.Trp362_Thr779delinsPheGlnAspIleLeuHisLeuGluSerProGluSerGlyAsnHisSerThrSerValGlnSerTrpAlaPheIleProGlnAspIleMetHisGlyGlnTyrAsnValLeuGlnLysAspHisAlaLysThrSerAspProGlyArgSerTrpLysIleMetHisIleSerGluGlnGluGluProIleGluLeuLysCysValSerValThrGlyPheThrAlaLeuPheThrTrpGluValGluArgMetGlyTyrThrIleThrLeuTrpAspLeuGluThrGlnGlyMetGlnCysPheSerLeuGlyThrLysCysIleProValAspSerSerGlyAspGlnGlnLeuCysPheValLeuThrGluAsnGlyLeuSerLeuIleLeuPheGlyLeuThrGlnGluGluPheLeuAsnArgLeuMetIleHisGlySerAlaSerThrValAspThrLeuCysHisLeuAsnGlyTrpGlyArgCysSerIleProIleHisAlaLeuGluAlaGlyIleGluAsnArgGlnLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGlyLysGlyGluThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374393" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.1085G>A" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.1085G>A" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "A", "end": 852, "referenceAllele": "G", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.827G>A" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Trp276Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.2:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_006720764.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073771" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_011522093.1:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_011520395.1:p.Trp362Ter", "hgvsWellDefined": "XP_011520395.1:p.Trp362_Ile1233delinsPheGlnAspIleLeuHisLeuGluSerProGluSerGlyAsnHisSerThrSerValGlnSerTrpAlaPheIleProGlnAspIleMetHisGlyGlnTyrAsnValLeuGlnLysAspHisAlaLysThrSerAspProGlyArgSerTrpLysIleMetHisIleSerGluGlnGluGluProIleGluLeuLysCysValSerValThrGlyPheThrAlaLeuPheThrTrpGluValGluArgMetGlyTyrThrIleThrLeuTrpAspLeuGluThrGlnGlyMetGlnCysPheSerLeuGlyThrLysCysIleProValAspSerSerGlyAspGlnGlnLeuCysPheValLeuThrGluAsnGlyLeuSerLeuIleLeuPheGlyLeuThrGlnGluGluPheLeuAsnArgLeuMetIleHisGlySerAlaSerThrValAspThrLeuCysHisLeuAsnGlyTrpGlyArgCysSerIleProIleHisAlaLeuGluAlaGlyIleGluAsnArgGlnLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuArgLysThrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089250" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.1:n.1116G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127986" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.3:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_006720764.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540149" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022635.2:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_016878124.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS573548" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_001751402.1:n.1116G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598305" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "G", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.2:n.1116G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610061" }, { "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.1085G>A" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.1085G>A" }, "RefSeq": { "hgvs": "NM_025137.4:c.1085G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Trp362Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Trp362Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1100, "referenceAllele": "G", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.1085G>A" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Trp362Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }