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"ENSP00000261866.7:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS250869" }, { "coordinates": [ { "allele": "T", "end": 2857, "referenceAllele": "G", "start": 2856 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000427534.6:c.2857G>T" ], "proteinEffect": { "hgvs": "ENSP00000396110.2:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289750" }, { "coordinates": [ { "allele": "T", "end": 2885, "referenceAllele": "G", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000535302.6:c.2857G>T" ], "proteinEffect": { "hgvs": "ENSP00000445278.2:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS359651" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558319.5:c.2857G>T" ], "proteinEffect": { "hgvs": "ENSP00000453599.1:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS373709" }, { "coordinates": [ { "allele": "T", "end": 1700, "referenceAllele": "G", "start": 1699 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558989.1:n.1700G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374218" }, { "coordinates": [ { "allele": "T", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000560435.1:c.204G>T" ], "proteinEffect": { "hgvs": "ENSP00000452629.1:n.204G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS375342" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.2857G>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.2857G>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "T", "end": 2624, "referenceAllele": "G", "start": 2623 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.2599G>T" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Glu867Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.2857G>T" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.2:c.2857G>T" ], "proteinEffect": { "hgvs": "XP_006720764.1:p.Glu953Ter", "hgvsWellDefined": "XP_006720764.1:p.Glu953_Met1584delinsLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrValGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073771" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_011522093.1:c.2857G>T" ], "proteinEffect": { "hgvs": "XP_011520395.1:p.Glu953Ter", "hgvsWellDefined": "XP_011520395.1:p.Glu953_Ile1233delinsLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuArgLysThrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089250" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.1:n.2888G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127986" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.3:c.2857G>T" ], "proteinEffect": { "hgvs": "XP_006720764.1:p.Glu953Ter", "hgvsWellDefined": "XP_006720764.1:p.Glu953_Met1584delinsLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrValGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540149" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.2857G>T" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022635.2:c.2857G>T" ], "proteinEffect": { "hgvs": "XP_016878124.1:p.Glu953Ter", "hgvsWellDefined": "XP_016878124.1:p.Glu953_Lys1600delinsLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrSerArgValAsnTyrGluThrIleValThrGluAsnGlnIleLeuValPheGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573548" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "G", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022636.1:c.-160G>T" ], "proteinEffect": { "hgvs": "XP_016878125.1:n.-160G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573549" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_001751402.1:n.2888G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598305" }, { "coordinates": [ { "allele": "T", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.2:n.2888G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610061" }, { "coordinates": [ { "allele": "T", "end": 2872, "referenceAllele": "G", "start": 2871 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.2857G>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.2857G>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.2857G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Glu953Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Glu953Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2872, "referenceAllele": "G", "start": 2871 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.2857G>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Glu953Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }