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"ENSP00000453599.1:p.Arg1992Ter", "hgvsWellDefined": "ENSP00000453599.1:p.Arg1992_Leu2079delinsGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyAlaLeuProProGlyAspSerGlnProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373709" }, { "coordinates": [ { "allele": "T", "end": 714, "endIntronDirection": "-", "endIntronOffset": 4275, "referenceAllele": "C", "start": 714, "startIntronDirection": "-", "startIntronOffset": 4276 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559511.5:c.715-4276C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374643" }, { "coordinates": [ { "allele": "T", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559822.1:c.517C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374888" }, { "coordinates": [ { "allele": "T", "end": 5897, "endIntronDirection": "-", "endIntronOffset": 2113, "referenceAllele": "C", "start": 5897, "startIntronDirection": "-", "startIntronOffset": 2114 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.5867-2114C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:n.5867-2114C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "@id": "http://reg.genome.network/allele/PA277267", "coordinates": [ { "allele": "T", "end": 6005, "referenceAllele": "C", "start": 6004 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.5974C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Arg1992Ter", "hgvsWellDefined": "NP_079413.3:p.Arg1992_Gly2443delinsGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "T", "end": 5741, "referenceAllele": "C", "start": 5740 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.5716C>T" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Arg1906Ter", "hgvsWellDefined": "XP_005254752.1:p.Arg1906_Gly2357delinsGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "T", "end": 5861, "referenceAllele": "C", "start": 5860 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.5830C>T" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Arg1944Ter", "hgvsWellDefined": "XP_006720763.1:p.Arg1944_Gly2395delinsGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "T", "end": 6005, "referenceAllele": "C", "start": 6004 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.5974C>T" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Arg1992Ter", "hgvsWellDefined": "XP_016878123.1:p.Arg1992_Gly2407delinsGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "T", "end": 3814, "referenceAllele": "C", "start": 3813 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022636.1:c.2851C>T" ], "proteinEffect": { "hgvs": "XP_016878125.1:p.Arg951Ter", "hgvsWellDefined": "XP_016878125.1:p.Arg951_Gly1402delinsGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573549" }, { "@id": "http://reg.genome.network/allele/PA277267", "coordinates": [ { "allele": "T", "end": 5989, "referenceAllele": "C", "start": 5988 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.5974C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Arg1992Ter", "hgvsWellDefined": "NP_079413.3:p.Arg1992_Gly2443delinsGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.5974C>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.5974C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Arg1992Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Arg1992Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5881, "endIntronDirection": "-", "endIntronOffset": 2113, "referenceAllele": "C", "start": 5881, "startIntronDirection": "-", "startIntronOffset": 2114 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.5867-2114C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:n.5867-2114C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }