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"T", "end": 23, "referenceAllele": "C", "start": 22 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000561268.5:n.23C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS375979" }, { "coordinates": [ { "allele": "T", "end": 5897, "endIntronDirection": "-", "endIntronOffset": 840, "referenceAllele": "C", "start": 5897, "startIntronDirection": "-", "startIntronOffset": 841 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.5867-841C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:n.5867-841C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "@id": "http://reg.genome.network/allele/PA344371", "coordinates": [ { "allele": "T", "end": 6122, "referenceAllele": "C", "start": 6121 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.6091C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Arg2031Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "T", "end": 5858, "referenceAllele": "C", "start": 5857 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.5833C>T" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Arg1945Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "T", "end": 5978, "referenceAllele": "C", "start": 5977 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.5947C>T" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Arg1983Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "T", "end": 6122, "referenceAllele": "C", "start": 6121 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.6091C>T" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Arg2031Ter", "hgvsWellDefined": "XP_016878123.1:p.Arg2031_Gly2407delinsCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "T", "end": 3931, "referenceAllele": "C", "start": 3930 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022636.1:c.2968C>T" ], "proteinEffect": { "hgvs": "XP_016878125.1:p.Arg990Ter", "hgvsWellDefined": "XP_016878125.1:p.Arg990_Gly1402delinsCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573549" }, { "@id": "http://reg.genome.network/allele/PA344371", "coordinates": [ { "allele": "T", "end": 6106, "referenceAllele": "C", "start": 6105 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.6091C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Arg2031Ter", "hgvsWellDefined": "NP_079413.3:p.Arg2031_Gly2443delinsCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.6091C>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.6091C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Arg2031Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Arg2031Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5881, "endIntronDirection": "-", "endIntronOffset": 840, "referenceAllele": "C", "start": 5881, "startIntronDirection": "-", "startIntronOffset": 841 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.5867-841C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:n.5867-841C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }