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"referenceSequence": "http://reg.genome.network/refseq/RS374643" }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559933.1:n.478C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374971" }, { "coordinates": [ { "allele": "T", "end": 275, "endIntronDirection": "+", "endIntronOffset": 2090, "referenceAllele": "C", "start": 275, "startIntronDirection": "+", "startIntronOffset": 2089 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000561268.5:n.275+2090C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS375979" }, { "@id": "http://reg.genome.network/allele/PA2825948405", "coordinates": [ { "allele": "T", "end": 6101, "referenceAllele": "C", "start": 6100 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.6070C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Arg2024Ter", "hgvsWellDefined": "NP_001153699.1:p.Arg2024_Gly2330delinsValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "@id": "http://reg.genome.network/allele/PA913200046", "coordinates": [ { "allele": "T", "end": 6440, "referenceAllele": "C", "start": 6439 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.6409C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Arg2137Ter", "hgvsWellDefined": "NP_079413.3:p.Arg2137_Gly2443delinsValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "T", "end": 6176, "referenceAllele": "C", "start": 6175 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.6151C>T" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Arg2051Ter", "hgvsWellDefined": "XP_005254752.1:p.Arg2051_Gly2357delinsValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "T", "end": 6296, "referenceAllele": "C", "start": 6295 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.6265C>T" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Arg2089Ter", "hgvsWellDefined": "XP_006720763.1:p.Arg2089_Gly2395delinsValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "T", "end": 6440, "referenceAllele": "C", "start": 6439 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.6409C>T" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Arg2137Ter", "hgvsWellDefined": "XP_016878123.1:p.Arg2137_Gly2407delinsValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "T", "end": 4249, "referenceAllele": "C", "start": 4248 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022636.1:c.3286C>T" ], "proteinEffect": { "hgvs": "XP_016878125.1:p.Arg1096Ter", "hgvsWellDefined": "XP_016878125.1:p.Arg1096_Gly1402delinsValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573549" }, { "@id": "http://reg.genome.network/allele/PA913200046", "coordinates": [ { "allele": "T", "end": 6424, "referenceAllele": "C", "start": 6423 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.6409C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Arg2137Ter", "hgvsWellDefined": "NP_079413.3:p.Arg2137_Gly2443delinsValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.6409C>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.6409C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Arg2137Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Arg2137Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825948405", "coordinates": [ { "allele": "T", "end": 6085, "referenceAllele": "C", "start": 6084 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.6070C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Arg2024Ter", "hgvsWellDefined": "NP_001153699.1:p.Arg2024_Gly2330delinsValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }