{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344312", "communityStandardTitle": [ "NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49709[alleleid]", "alleleId": 49709, "preferredName": "NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41285", "RCV": [ "RCV000034186", "RCV000414282", "RCV001807747" ], "variationId": 41285 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-44918627-G-A", "id": "15-44918627-G-A", "variant": "15:44918627 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44918627G>A?assembly=hg19", "id": "chr15:g.44918627G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.44626429G>A?assembly=hg38", "id": "chr15:g.44626429G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/312262737", "rs": 312262737 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-44918627-G-A?dataset=gnomad_r2_1", "id": "15-44918627-G-A", "variant": "15:44918627 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-44626429-G-A?dataset=gnomad_r3", "id": "15-44626429-G-A", "variant": "15:44626429 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-44626429-G-A?dataset=gnomad_r4", "id": "15-44626429-G-A", "variant": "15:44626429 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 44626429, "referenceAllele": "G", "start": 44626428 } ], "hgvs": [ "NC_000015.10:g.44626429G>A", "CM000677.2:g.44626429G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 44918627, "referenceAllele": "G", "start": 44918626 } ], "hgvs": [ "NC_000015.9:g.44918627G>A", "CM000677.1:g.44918627G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 42705919, "referenceAllele": "G", "start": 42705918 } ], "hgvs": [ "NC_000015.8:g.42705919G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 42250, "referenceAllele": "C", "start": 42249 } ], "hgvs": [ "NG_008885.1:g.42250C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001280" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "C", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559511.6:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000453246.2:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS826071" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682065.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000507025.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS827063" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682460.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000508334.1:p.Gln716Ter", "hgvsWellDefined": "ENSP00000508334.1:p.Gln716_Leu1221delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAlaLeuTrpGluValLysValGlyArgSerProGluAlaArgSerSerArgProAlaTrpProThrTrpArgAsnProValSerThrMetHisGlyValIleSerHisIleSerLeuAlaLeuThrTrpLeuIleAsnMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827450" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682495.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000507166.1:p.Gln716Ter", "hgvsWellDefined": "ENSP00000507166.1:p.Gln716_Glu1210delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspGlyValLeuPheArgProGlyTrpSerAlaValAlaArgSerArgSerArgLeuAlaAlaSerCysAlaSerArgValHisAlaIleLeuLeuProGlnProProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827485" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682669.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000507782.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS827658" }, { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682788.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000508089.1:p.Gln716Ter", "hgvsWellDefined": "ENSP00000508089.1:p.Gln716_Asp1639delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyLysGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827777" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682877.1:n.2177C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827865" }, { "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "C", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000682915.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000507493.1:p.Gln716Ter", "hgvsWellDefined": "ENSP00000507493.1:p.Gln716_Leu1197delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyGlyIleArgSerGlnCysGluLysSerLeuGluPheHisGluLysThrGlnLeuTyrPheArgAsnLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827903" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683121.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000507557.1:p.Gln716Ter", "hgvsWellDefined": "ENSP00000507557.1:p.Gln716_Trp1492delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnValArgIleMetArgSerLeuLysIleProArgTyrTyrTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828106" }, { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683186.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000507268.1:p.Gln716Ter", "hgvsWellDefined": "ENSP00000507268.1:p.Gln716_Gly1020delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysSerGlnThrAspLeuProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828169" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683255.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000508340.1:p.Gln716Ter", "hgvsWellDefined": "ENSP00000508340.1:p.Gln716_Gly1020delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysSerGlnThrAspLeuProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828237" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683496.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000506968.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828470" }, { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683573.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000508031.1:p.Gln716Ter", "hgvsWellDefined": "ENSP00000508031.1:p.Gln716_Cys949delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgTyrTyrAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828546" }, { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683734.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000508319.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS828705" }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000683753.1:n.1270C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828724" }, { "coordinates": [ { "allele": "T", "end": 1909, "referenceAllele": "C", "start": 1908 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684038.1:c.1888C>T" ], "proteinEffect": { "hgvs": "ENSP00000507141.1:p.Gln630Ter", "hgvsWellDefined": "ENSP00000507141.1:p.Gln630_Leu1135delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAlaLeuTrpGluValLysValGlyArgSerProGluAlaArgSerSerArgProAlaTrpProThrTrpArgAsnProValSerThrMetHisGlyValIleSerHisIleSerLeuAlaLeuThrTrpLeuIleAsnMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828999" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684235.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000508295.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS829192" }, { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684490.1:n.2161C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829444" }, { "coordinates": [ { "allele": "T", "end": 2187, "referenceAllele": "C", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000684676.1:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000506948.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS829627" }, { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.12:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS742228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.2146C>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.2146C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Gln716Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Gln716Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2163, "referenceAllele": "C", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000261866.11:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000261866.7:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS250869" }, { "coordinates": [ { "allele": "T", "end": 2146, "referenceAllele": "C", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000427534.6:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000396110.2:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289750" }, { "coordinates": [ { "allele": "T", "end": 2174, "referenceAllele": "C", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000535302.6:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000445278.2:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS359651" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000558319.5:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000453599.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS373709" }, { "coordinates": [ { "allele": "T", "end": 2157, "referenceAllele": "C", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "ENST00000559193.5:c.2146C>T" ], "proteinEffect": { "hgvs": "ENSP00000453848.1:p.Gln716Ter", "hgvsWellDefined": "ENSP00000453848.1:p.Gln716_Thr779delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGlyLysGlyGluThrThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374393" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.1:c.2146C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS014158" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.3:c.2146C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS038221" }, { "coordinates": [ { "allele": "T", "end": 1913, "referenceAllele": "C", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_005254695.3:c.1888C>T" ], "proteinEffect": { "hgvs": "XP_005254752.1:p.Gln630Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS060735" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720700.1:c.2146C>T" ], "proteinEffect": { "hgvs": "XP_006720763.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS073770" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.2:c.2146C>T" ], "proteinEffect": { "hgvs": "XP_006720764.1:p.Gln716Ter", "hgvsWellDefined": "XP_006720764.1:p.Gln716_Met1584delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrValGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073771" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_011522093.1:c.2146C>T" ], "proteinEffect": { "hgvs": "XP_011520395.1:p.Gln716Ter", "hgvsWellDefined": "XP_011520395.1:p.Gln716_Ile1233delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuArgLysThrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089250" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.1:n.2177C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127986" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_006720701.3:c.2146C>T" ], "proteinEffect": { "hgvs": "XP_006720764.1:p.Gln716Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS540149" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022634.1:c.2146C>T" ], "proteinEffect": { "hgvs": "XP_016878123.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS573547" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022635.2:c.2146C>T" ], "proteinEffect": { "hgvs": "XP_016878124.1:p.Gln716Ter", "hgvsWellDefined": "XP_016878124.1:p.Gln716_Lys1600delinsLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrSerArgValAsnTyrGluThrIleValThrGluAsnGlnIleLeuValPheGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573548" }, { "coordinates": [ { "allele": "T", "end": 93, "referenceAllele": "C", "start": 92 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XM_017022636.1:c.-871C>T" ], "proteinEffect": { "hgvs": "XP_016878125.1:n.-871C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573549" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_001751402.1:n.2177C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598305" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "XR_931917.2:n.2177C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610061" }, { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_025137.4:c.2146C>T" ], "proteinEffect": { "hgvs": "NP_079413.3:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS670903", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261866.12:c.2146C>T" }, "RefSeq": { "hgvs": "NM_025137.4:c.2146C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261866.7:p.Gln716Ter" }, "RefSeq": { "hgvs": "NP_079413.3:p.Gln716Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "C", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN011226", "geneNCBI_id": 80208, "geneSymbol": "SPG11", "hgvs": [ "NM_001160227.2:c.2146C>T" ], "proteinEffect": { "hgvs": "NP_001153699.1:p.Gln716Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS678139" } ], "type": "nucleotide" }