{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7534559", "communityStandardTitle": [ "NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=552182[alleleid]", "alleleId": 552182, "preferredName": "NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/561117", "RCV": [ "RCV000680108", "RCV001855629", "RCV002467986" ], "variationId": 561117 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-44881468-C-A", "id": "15-44881468-C-A", "variant": "15:44881468 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44881468C>A?assembly=hg19", "id": "chr15:g.44881468C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44589270C>A?assembly=hg38", "id": "chr15:g.44589270C>A" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS828705" }, { "coordinates": [ { "allele": "T", "end": 3934, "referenceAllele": "G", "start": 3933 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683753.1:n.3934G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828724" }, { "coordinates": [ { "allele": "T", "end": 4737, "referenceAllele": "G", "start": 4736 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684038.1:c.*1308G>T" ], "proteinEffect": { "hgvs": "ENSP00000507141.1:n.*1308G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828999" }, { "coordinates": [ { "allele": "T", "end": 4919, "referenceAllele": "G", "start": 4918 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684235.1:c.4888G>T" ], "proteinEffect": { "hgvs": "ENSP00000508295.1:p.Glu1630Ter", "hgvsWellDefined": "ENSP00000508295.1:p.Glu1630_His2392delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysIleLeuHisPheTyrLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829192" }, { "coordinates": [ { "allele": "T", "end": 4929, "referenceAllele": "G", "start": 4928 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684676.1:c.4888G>T" ], "proteinEffect": { "hgvs": "ENSP00000506948.1:p.Glu1630Ter", "hgvsWellDefined": "ENSP00000506948.1:p.Glu1630_Pro1873delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaLysHisTrpProGlnGlyLysLeuValTrpArgIleCysThrGlnArgSerMetLeuSerTyrLysValLeuSerCysLeuArgLysLysHisProThrPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829627" }, { "coordinates": [ { "allele": "T", "end": 4903, "referenceAllele": "G", "start": 4902 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.12:c.4888G>T" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Glu1630Ter", "hgvsWellDefined": "ENSP00000261866.7:p.Glu1630_Gly2443delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.4888G>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.4888G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Glu1630Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Glu1630Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4905, "referenceAllele": "G", "start": 4904 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.11:c.4888G>T" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Glu1630Ter", "hgvsWellDefined": "ENSP00000261866.7:p.Glu1630_Gly2443delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250869" }, { "coordinates": [ { "allele": "T", "end": 4888, "referenceAllele": "G", "start": 4887 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000427534.6:c.4888G>T" ], "proteinEffect": { "hgvs": "ENSP00000396110.2:p.Glu1630Ter", "hgvsWellDefined": "ENSP00000396110.2:p.Glu1630_Thr2265delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpAspIleAsnAsnIleSerLeuLeuThrTrpSerTrpLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289750" }, { "coordinates": [ { "allele": "T", "end": 4916, "referenceAllele": "G", "start": 4915 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000535302.6:c.4888G>T" ], "proteinEffect": { "hgvs": "ENSP00000445278.2:p.Glu1630Ter", "hgvsWellDefined": "ENSP00000445278.2:p.Glu1630_Gly2330delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359651" }, { "coordinates": [ { "allele": "T", "end": 540, "referenceAllele": "G", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558155.1:c.540G>T" ], "proteinEffect": { "hgvs": "ENSP00000453238.1:n.540G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS373591" }, { "coordinates": [ { "allele": "T", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558253.5:n.662G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS373664" }, { "coordinates": [ { "allele": "T", "end": 4919, "referenceAllele": "G", "start": 4918 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558319.5:c.4888G>T" ], "proteinEffect": { "hgvs": "ENSP00000453599.1:p.Glu1630Ter", "hgvsWellDefined": "ENSP00000453599.1:p.Glu1630_Leu2079delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyAlaLeuProProGlyAspSerGlnProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373709" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "G", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558790.5:n.253G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374071" }, { "coordinates": [ { "allele": "T", "end": 268, "referenceAllele": "G", "start": 267 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000560858.1:c.268G>T" ], "proteinEffect": { "hgvs": "ENSP00000452991.1:p.Glu90Ter", "hgvsWellDefined": "ENSP00000452991.1:p.Glu90_Asp99delinsHisLeuPheSerAspGlyLysGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375666" }, { "@id": "http://reg.genome.network/allele/PA2825948058", "coordinates": [ { "allele": "T", "end": 4919, "referenceAllele": "G", "start": 4918 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.4888G>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Glu1630Ter", "hgvsWellDefined": "NP_001153699.1:p.Glu1630_Gly2330delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "@id": "http://reg.genome.network/allele/PA658830779", "coordinates": [ { "allele": "T", "end": 4919, "referenceAllele": "G", "start": 4918 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.4888G>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Glu1630Ter", "hgvsWellDefined": "NP_079413.3:p.Glu1630_Gly2443delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "T", "end": 4655, "referenceAllele": "G", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.4630G>T" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Glu1544Ter", "hgvsWellDefined": "XP_005254752.1:p.Glu1544_Gly2357delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "T", "end": 4919, "referenceAllele": "G", "start": 4918 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.4888G>T" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Glu1630Ter", "hgvsWellDefined": "XP_006720763.1:p.Glu1630_Gly2395delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "T", "end": 4774, "endIntronDirection": "+", "endIntronOffset": 3061, "referenceAllele": "G", "start": 4774, "startIntronDirection": "+", "startIntronOffset": 3060 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.2:c.4743+3061G>T" ], "proteinEffect": { "hgvs": "XP_006720764.1:n.4743+3061G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS073771" }, { "coordinates": [ { "allele": "T", "end": 4774, "endIntronDirection": "+", "endIntronOffset": 3061, "referenceAllele": "G", "start": 4774, "startIntronDirection": "+", "startIntronOffset": 3060 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.3:c.4743+3061G>T" ], "proteinEffect": { "hgvs": "XP_006720764.1:n.4743+3061G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540149" }, { "coordinates": [ { "allele": "T", "end": 4919, "referenceAllele": "G", "start": 4918 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.4888G>T" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Glu1630Ter", "hgvsWellDefined": "XP_016878123.1:p.Glu1630_Gly2407delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "T", "end": 2728, "referenceAllele": "G", "start": 2727 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022636.1:c.1765G>T" ], "proteinEffect": { "hgvs": "XP_016878125.1:p.Glu589Ter", "hgvsWellDefined": "XP_016878125.1:p.Glu589_Gly1402delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573549" }, { "coordinates": [ { "allele": "T", "end": 4942, "referenceAllele": "G", "start": 4941 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.2:n.4942G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610061" }, { "@id": "http://reg.genome.network/allele/PA658830779", "coordinates": [ { "allele": "T", "end": 4903, "referenceAllele": "G", "start": 4902 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.4888G>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Glu1630Ter", "hgvsWellDefined": "NP_079413.3:p.Glu1630_Gly2443delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.4888G>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.4888G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Glu1630Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Glu1630Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825948058", "coordinates": [ { "allele": "T", "end": 4903, "referenceAllele": "G", "start": 4902 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.4888G>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Glu1630Ter", "hgvsWellDefined": "NP_001153699.1:p.Glu1630_Gly2330delinsHisLeuPheSerAspGlyProAspValLysLysLeuCysIleLeuCysGlnIleLeuLysAspThrSerIleAlaIleAsnHisThrIleIleThrSerTyrSerIleGluAsnLeuGlnHisGluCysArgSerIleLeuGluArgLeuGlnThrAspGlyGlnPheAlaLeuAlaArgArgValAlaGluLeuAlaGluLeuProValAspAsnLeuValIleLysGluIleThrGlnGluMetGlnThrLeuLysHisIleGluGlnTrpSerLeuLysGlnAlaArgIleAspPheTrpLysLysCysHisGluAsnPheLysLysAsnSerIleSerSerLysAlaAlaSerSerPhePheSerThrGlnAlaHisValAlaCysGluHisProThrGlyTrpSerSerMetGluGluArgHisLeuLeuLeuThrLeuAlaGlyHisTrpLeuAlaGlnGluAspValValProLeuAspLysLeuGluGluLeuGluLysGlnIleTrpLeuCysArgIleThrGlnHisThrLeuGlyArgAsnGlnGluGluThrGluProArgPheSerArgGlnIleSerThrSerGlyGluLeuSerPheAspSerLeuAlaSerGluPheSerPheSerLysLeuAlaAlaLeuAsnThrSerLysTyrLeuGluLeuAsnSerLeuProSerLysGluThrCysGluAsnArgLeuAspTrpLysGluGlnGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }