{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339870", "communityStandardTitle": [ "NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16155[alleleid]", "alleleId": 16155, "preferredName": "NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1116", "RCV": [ "RCV000001175", "RCV000413953", "RCV002345222", "RCV002482813" ], "variationId": 1116 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-44876255-G-A", "id": "15-44876255-G-A", "variant": "15:44876255 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44876255G>A?assembly=hg19", "id": "chr15:g.44876255G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44584057G>A?assembly=hg38", "id": "chr15:g.44584057G>A" } ], "dbSNP": [ { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS826071" }, { "coordinates": [ { "allele": "T", "end": 1851, "referenceAllele": "C", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000561391.2:n.1851C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826078" }, { "coordinates": [ { "allele": "T", "end": 5510, "referenceAllele": "C", "start": 5509 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682065.1:c.5479C>T" ], "proteinEffect": { "hgvs": "ENSP00000507025.1:p.Gln1827Ter", "hgvsWellDefined": 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"ENST00000682669.1:c.5422C>T" ], "proteinEffect": { "hgvs": "ENSP00000507782.1:p.Gln1808Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS827658" }, { "coordinates": [ { "allele": "T", "end": 5464, "referenceAllele": "C", "start": 5463 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683186.1:c.*2386C>T" ], "proteinEffect": { "hgvs": "ENSP00000507268.1:n.*2386C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828169" }, { "coordinates": [ { "allele": "T", "end": 5654, "referenceAllele": "C", "start": 5653 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683496.1:c.5623C>T" ], "proteinEffect": { "hgvs": "ENSP00000506968.1:p.Gln1875Ter", "hgvsWellDefined": "ENSP00000506968.1:p.Gln1875_Ser2004delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828470" }, { "coordinates": [ { "allele": "T", "end": 5638, "referenceAllele": "C", "start": 5637 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683734.1:c.5623C>T" ], "proteinEffect": { "hgvs": "ENSP00000508319.1:p.Gln1875Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS828999" }, { "coordinates": [ { "allele": "T", "end": 5654, "referenceAllele": "C", "start": 5653 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684235.1:c.5623C>T" ], "proteinEffect": { "hgvs": "ENSP00000508295.1:p.Gln1875Ter", "hgvsWellDefined": "ENSP00000508295.1:p.Gln1875_His2392delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysIleLeuHisPheTyrLeuThrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829192" }, { "coordinates": [ { "allele": "T", "end": 5556, "endIntronDirection": "+", "endIntronOffset": 108, "referenceAllele": "C", "start": 5556, "startIntronDirection": "+", "startIntronOffset": 107 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684676.1:c.5515+108C>T" ], "proteinEffect": { "hgvs": "ENSP00000506948.1:n.5515+108C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829627" }, { "coordinates": [ { "allele": "T", "end": 5638, "referenceAllele": "C", "start": 5637 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.12:c.5623C>T" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Gln1875Ter", "hgvsWellDefined": "ENSP00000261866.7:p.Gln1875_Gly2443delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.5623C>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.5623C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Gln1875Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Gln1875Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 5640, "referenceAllele": "C", "start": 5639 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.11:c.5623C>T" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Gln1875Ter", "hgvsWellDefined": "ENSP00000261866.7:p.Gln1875_Gly2443delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250869" }, { "coordinates": [ { "allele": "T", "end": 5623, "referenceAllele": "C", "start": 5622 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000427534.6:c.5623C>T" ], "proteinEffect": { "hgvs": "ENSP00000396110.2:p.Gln1875Ter", "hgvsWellDefined": "ENSP00000396110.2:p.Gln1875_Thr2265delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpAspIleAsnAsnIleSerLeuLeuThrTrpSerTrpLysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS289750" }, { "coordinates": [ { "allele": "T", "end": 5651, "referenceAllele": "C", "start": 5650 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000535302.6:c.5623C>T" ], "proteinEffect": { "hgvs": "ENSP00000445278.2:p.Gln1875Ter", "hgvsWellDefined": "ENSP00000445278.2:p.Gln1875_Gly2330delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359651" }, { "coordinates": [ { "allele": "T", "end": 5654, "referenceAllele": "C", "start": 5653 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558319.5:c.5623C>T" ], "proteinEffect": { "hgvs": "ENSP00000453599.1:p.Gln1875Ter", "hgvsWellDefined": "ENSP00000453599.1:p.Gln1875_Leu2079delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyAlaLeuProProGlyAspSerGlnProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373709" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559511.5:c.471C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374643" }, { "coordinates": [ { "allele": "T", "end": 287, "endIntronDirection": "+", "endIntronOffset": 108, "referenceAllele": "C", "start": 287, "startIntronDirection": "+", "startIntronOffset": 107 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559822.1:c.287+108C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS374888" }, { "@id": "http://reg.genome.network/allele/PA2825948257", "coordinates": [ { "allele": "T", "end": 5654, "referenceAllele": "C", "start": 5653 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.5623C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Gln1875Ter", "hgvsWellDefined": "NP_001153699.1:p.Gln1875_Gly2330delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "@id": "http://reg.genome.network/allele/PA339871", "coordinates": [ { "allele": "T", "end": 5654, "referenceAllele": "C", "start": 5653 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.5623C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Gln1875Ter", "hgvsWellDefined": "NP_079413.3:p.Gln1875_Gly2443delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "T", "end": 5390, "referenceAllele": "C", "start": 5389 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.5365C>T" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Gln1789Ter", "hgvsWellDefined": "XP_005254752.1:p.Gln1789_Gly2357delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "T", "end": 5510, "referenceAllele": "C", "start": 5509 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.5479C>T" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Gln1827Ter", "hgvsWellDefined": "XP_006720763.1:p.Gln1827_Gly2395delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "T", "end": 5654, "referenceAllele": "C", "start": 5653 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.5623C>T" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Gln1875Ter", "hgvsWellDefined": "XP_016878123.1:p.Gln1875_Gly2407delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "T", "end": 3463, "referenceAllele": "C", "start": 3462 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022636.1:c.2500C>T" ], "proteinEffect": { "hgvs": "XP_016878125.1:p.Gln834Ter", "hgvsWellDefined": "XP_016878125.1:p.Gln834_Gly1402delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573549" }, { "@id": "http://reg.genome.network/allele/PA339871", "coordinates": [ { "allele": "T", "end": 5638, "referenceAllele": "C", "start": 5637 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.5623C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Gln1875Ter", "hgvsWellDefined": "NP_079413.3:p.Gln1875_Gly2443delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerThrSerSerLeuAspSerGlnLysPheValThrValProSerSerAsnGluValValThrAsnLeuGluValLeuThrSerLysCysLeuHisGlyLysAsnTyrCysArgGlnValLeuCysLeuTyrAspLeuAlaLysGluLeuGlyCysSerTyrThrAspValAlaAlaGlnAspGlyGluAlaMetLeuArgLysIleLeuAlaSerGlnGlnProAspArgCysLysArgAlaGlnAlaPheIleSerThrGlnGlyLeuLysProAspThrValAlaGluLeuValAlaGluGluValThrArgGluLeuLeuThrSerSerGlnGlyThrGlyHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.5623C>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.5623C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Gln1875Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Gln1875Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825948257", "coordinates": [ { "allele": "T", "end": 5638, "referenceAllele": "C", "start": 5637 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.5623C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Gln1875Ter", "hgvsWellDefined": "NP_001153699.1:p.Gln1875_Gly2330delinsGluSerLeuAsnPheLeuIleGlyArgLeuLeuAspAspGlyCysValHisGluAlaSerArgValCysArgTyrPheHisPheTyrAsnProAspValAlaLeuValLeuHisCysArgAlaLeuAlaSerGlyGluAlaSerMetGluAspLeuHisProGluIleHisAlaLeuLeuGlnSerAlaGluLeuLeuGluGluGluAlaProAspIleProLeuArgArgValHisSerArgHisLysGlnMetPheAsnProThrGluGluSerGlnThrPheLeuGlnLeuThrThrLeuCysGlnAspArgThrLeuValGlyMetLysLeuLeuAspLysIleSerSerValProHisGlyGluLeuSerCysThrThrGluLeuLeuIleLeuAlaHisHisCysPheThrLeuThrCysHisMetGluGlyIleIleArgValLeuGlnAlaAlaHisMetLeuThrAspAsnHisLeuAlaProSerGluGluTyrGlyLeuValValArgLeuLeuThrGlyIleGlyArgTyrAsnGluMetThrTyrIlePheAspLeuLeuHisLysLysHisTyrPheGluValLeuMetArgLysLysLeuAspProSerGlyThrLeuLysThrAlaLeuLeuAspTyrIleLysArgCysArgProGlyAspSerGluLysHisAsnMetIleAlaLeuCysPheSerMetCysArgGluIleGlyGluAsnHisGluAlaAlaAlaArgIleGlnLeuLysLeuIleGluSerGlnProTrpGluAspSerLeuLysAspGlyHisGlnLeuLysGlnLeuLeuLeuLysAlaLeuThrLeuMetLeuAspAlaAlaGluSerTyrAlaLysAspSerCysValArgGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }