{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA253966", "communityStandardTitle": [ "NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21855[alleleid]", "alleleId": 21855, "preferredName": "NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6816", "RCV": [ "RCV000007218", "RCV000200640", "RCV000664258", "RCV001847594" ], "variationId": 6816 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-89576947-T-A", "id": "16-89576947-T-A", "variant": "16:89576947 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89576947T>A?assembly=hg19", "id": "chr16:g.89576947T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89510539T>A?assembly=hg38", "id": "chr16:g.89510539T>A" } ], "dbSNP": [ { "@id": 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"referenceAllele": "T", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000642436.1:n.245T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766742" }, { "coordinates": [ { "allele": "A", "end": 153, "referenceAllele": "T", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000643105.1:c.153T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767094" }, { "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "T", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000643307.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495673.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495673.1:p.Leu80_Thr507delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspAlaThrLeuProGlyAspHisGluGluAlaGlnArgLysAspProArgLeuLeuLeuSerHisGlyAlaHisArgValThrGluGlyAsnGlyGlySerPheAlaLeuLeuGlyLeuProPheAlaLeuLysIleGluThrThrPheLeuSerAspLeuSerProLysAlaSerValTyrGlnThrIlePheSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767204" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "T", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000643345.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000493982.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000493982.1:p.Leu80_Gly126delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767229" }, { "coordinates": [ { "allele": "A", "end": 284, "referenceAllele": "T", "start": 283 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000643649.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000494806.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000494806.1:p.Leu80_Lys758delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaLeuAlaAsnAlaLeuLeuGluLysGluValIleAsnTyrGluAspIleGluAlaLeuIleGlyProProProHisGlyProLysLysMetIleAlaProGlnArgTrpIleAspAlaGlnArgGluLysGlnAspLeuGlyGluGluGluThrGluGluThrGlnGlnProProLeuGlyGlyGluGluProThrTrpProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767390" }, { "coordinates": [ { "allele": "A", "end": 250, "referenceAllele": "T", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000643668.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000494903.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000494903.1:p.Leu80_Phe164delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluValPheAspGlnThrProSerAsnTrpIleHisGlyHisCysGluLeuAlaLeuCysSerArgArgAlaAspCysIleCysAspGlySerAspGlyLeuGlyArgSerPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767400" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000643724.1:c.233T>A" ], "proteinEffect": { "hgvs": 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"hgvsWellDefined": "ENSP00000494246.1:p.Leu41_Ile107delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGlyPheTrpGlnGlnAsnLeuProValValLeuGlnAlaAlaValHisGluValCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767563" }, { "coordinates": [ { "allele": "A", "end": 242, "referenceAllele": "T", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000644210.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495675.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495675.1:p.Leu80_Ser511delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnArgLysGlyValAlaLeuSerProArgLeuGluCysSerAlaAlaIleThrThrHisCysGlyLeuAsnLeuGlnGlySerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767701" }, { "coordinates": [ { "allele": "A", "end": 250, "referenceAllele": "T", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000644225.1:n.250T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767709" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "T", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000644498.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000496244.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000496244.1:p.Leu80_Asp456delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspValPheTyrAlaGluIleGluGluLeuLysLeuValTyrProTyrHisGlyValLeuHisSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767845" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000644781.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495473.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495473.1:p.Leu80_Lys780delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaLeuAlaAsnAlaLeuLeuGluLysGluValIleAsnTyrGluAspIleGluAlaLeuIleGlyProProProHisGlyProLysLysMetIleAlaProGlnArgTrpIleAspAlaGlnArgGluLysGlnAspLeuGlyGluGluGluThrGluGluThrGlnGlnProProLeuGlyGlyGluGluProThrTrpProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767994" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000644901.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000493797.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000493797.1:p.Leu80_Gln278delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyLysValSerLeuCysArgProGlyTrpSerAlaValValGlnSerGlnLeuThrAlaAlaSerThrSerGlnAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768063" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000645042.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000493908.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000493908.1:p.Leu80_Ser511delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnArgLysGlyValAlaLeuSerProArgLeuGluCysSerAlaAlaIleThrThrHisCysGlyLeuAsnLeuGlnGlySerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768141" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000645063.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000493590.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000493590.1:p.Leu80_Leu809delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaArgAlaLeuCysValThrTrpGlySerCysLeuGlyProLeuAspCysArgProGlnProAlaAlaAlaAlaSerGlyGlnValTrpAlaValProSerProAlaGluAlaGlyLeuProValAspProCysSerSerArgLeuThrLysGlnLeuCysArgAlaArgAlaHisHisSerGlySerHisAsnGlySerLysAlaAlaAlaGlyLysArgProSerGlyLysGlySerAspLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768149" }, { "coordinates": [ { "allele": "A", "end": 148, "referenceAllele": "T", "start": 147 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000645354.1:c.148T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768308" }, { "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "T", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000645533.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495690.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495690.1:p.Leu80_Val339delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysValLysAlaAlaTrpAlaGlyArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768408" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000645818.2:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495795.2:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495795.2:p.Leu80_Lys795delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaLeuAlaAsnAlaLeuLeuGluLysGluValIleAsnTyrGluAspIleGluAlaLeuIleGlyProProProHisGlyProLysLysMetIleAlaProGlnArgTrpIleAspAlaGlnArgGluLysGlnAspLeuGlyGluGluGluThrGluGluThrGlnGlnProProLeuGlyGlyGluGluProThrTrpProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768558", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645818.2:c.233T>A" }, "RefSeq": { "hgvs": "NM_003119.4:c.233T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495795.2:p.Leu78Ter" }, "RefSeq": { "hgvs": "NP_003110.1:p.Leu78Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "T", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000645897.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495293.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495293.1:p.Leu80_Lys641delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaLeuAlaAsnAlaLeuLeuGluLysGluValIleAsnTyrGluAspIleGluAlaLeuIleGlyProProProHisGlyProLysLysMetIleAlaProGlnArgTrpIleAspAlaGlnArgGluLysGlnAspLeuGlyGluGluGluThrGluGluThrGlnGlnProProLeuGlyGlyGluGluProThrTrpProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768593" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000645977.1:n.248T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768633" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000646263.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000494119.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000494119.1:p.Leu80_His489delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyAlaSerLeuAspGlnLeuProSerGlnGlyThrMetArgLysLeuArgGlyLysThrProAlaCysSerCysLeuThrGluProThrGlySerArgArgAlaMetGluGlyHisSerLeuCysTrpGlyCysLeuLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768782" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "T", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000646303.1:c.101T>A" ], "proteinEffect": { "hgvs": "ENSP00000494160.1:p.Leu34Ter", "hgvsWellDefined": "ENSP00000494160.1:p.Leu36_Lys751delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaLeuAlaAsnAlaLeuLeuGluLysGluValIleAsnTyrGluAspIleGluAlaLeuIleGlyProProProHisGlyProLysLysMetIleAlaProGlnArgTrpIleAspAlaGlnArgGluLysGlnAspLeuGlyGluGluGluThrGluGluThrGlnGlnProProLeuGlyGlyGluGluProThrTrpProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768806" }, { "coordinates": [ { "allele": "A", "end": 39, "referenceAllele": "T", "start": 38 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000646445.1:c.39T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768878" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000646531.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495185.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495185.1:p.Leu80_Ser511delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnArgLysGlyValAlaLeuSerProArgLeuGluCysSerAlaAlaIleThrThrHisCysGlyLeuAsnLeuGlnGlySerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768925" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "T", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000646589.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000494739.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000494739.1:p.Leu80_Ala128delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768957" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "T", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000646716.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495593.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495593.1:p.Leu80_Leu493delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaArgAlaLeuCysValThrTrpGlySerCysLeuGlyProLeuAspCysArgProGlnProAlaAlaAlaAlaSerGlyGlnValTrpAlaValProSerProAlaGluAlaGlyLeuProValAspProCysSerSerArgLeuThrLysGlnLeuCysArgAlaArgAlaHisHisSerGlySerHisAsnGlySerLysAlaAlaAlaGlyLysArgProSerGlyLysGlySerAspLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769030" }, { "coordinates": [ { "allele": "A", "end": 241, "referenceAllele": "T", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000646826.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495123.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495123.1:p.Leu80_Ser511delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnArgLysGlyValAlaLeuSerProArgLeuGluCysSerAlaAlaIleThrThrHisCysGlyLeuAsnLeuGlnGlySerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769084" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000646930.1:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000495219.1:p.Leu78Ter", "hgvsWellDefined": "ENSP00000495219.1:p.Leu80_Asp463delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspValPheTyrAlaGluIleGluGluLeuLysLeuValTyrProTyrHisGlyValLeuHisSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769144" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "T", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000646958.1:n.183T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769159" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "T", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000647079.1:c.-176T>A" ], "proteinEffect": { "hgvs": "ENSP00000495967.1:n.-176T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769223" }, { "coordinates": [ { "allele": "A", "end": 49, "endIntronDirection": "+", "endIntronOffset": 1939, "referenceAllele": "T", "start": 49, "startIntronDirection": "+", "startIntronOffset": 1938 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000647227.1:c.49+1939T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769297" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000268704.6:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000268704.2:p.Leu78Ter", "hgvsWellDefined": "ENSP00000268704.2:p.Leu80_Lys795delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaLeuAlaAsnAlaLeuLeuGluLysGluValIleAsnTyrGluAspIleGluAlaLeuIleGlyProProProHisGlyProLysLysMetIleAlaProGlnArgTrpIleAspAlaGlnArgGluLysGlnAspLeuGlyGluGluGluThrGluGluThrGlnGlnProProLeuGlyGlyGluGluProThrTrpProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252097" }, { "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "T", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000341316.6:c.233T>A" ], "proteinEffect": { "hgvs": "ENSP00000341157.2:p.Leu78Ter", "hgvsWellDefined": "ENSP00000341157.2:p.Leu80_His489delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyAlaSerLeuAspGlnLeuProSerGlnGlyThrMetArgLysLeuArgGlyLysThrProAlaCysSerCysLeuThrGluProThrGlySerArgArgAlaMetGluGlyHisSerLeuCysTrpGlyCysLeuLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261302" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "T", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000563783.5:n.520T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS377647" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "T", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000566371.5:c.101T>A" ], "proteinEffect": { "hgvs": "ENSP00000454475.1:p.Leu34Ter", "hgvsWellDefined": "ENSP00000454475.1:p.Leu34_Leu131del" }, "referenceSequence": "http://reg.genome.network/refseq/RS379390" }, { "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "T", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000568151.1:c.329T>A" ], "proteinEffect": { "hgvs": "ENSP00000457719.1:p.Leu110Ter", "hgvsWellDefined": "ENSP00000457719.1:p.Leu110Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS380579" }, { "coordinates": [ { "allele": "A", "end": 74, "referenceAllele": "T", "start": 73 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000569363.1:n.74T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS381427" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "T", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "ENST00000620811.4:c.-1344T>A" ], "proteinEffect": { "hgvs": "ENSP00000478030.1:n.-1344T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS404993" }, { "@id": "http://reg.genome.network/allele/PA253967", "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "T", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "NM_003119.3:c.233T>A" ], "proteinEffect": { "hgvs": "NP_003110.1:p.Leu78Ter", "hgvsWellDefined": "NP_003110.1:p.Leu80_Lys795delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaLeuAlaAsnAlaLeuLeuGluLysGluValIleAsnTyrGluAspIleGluAlaLeuIleGlyProProProHisGlyProLysLysMetIleAlaProGlnArgTrpIleAspAlaGlnArgGluLysGlnAspLeuGlyGluGluGluThrGluGluThrGlnGlnProProLeuGlyGlyGluGluProThrTrpProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028391" }, { "@id": "http://reg.genome.network/allele/PA645463218", "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "T", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "NM_199367.2:c.233T>A" ], "proteinEffect": { "hgvs": "NP_955399.1:p.Leu78Ter", "hgvsWellDefined": "NP_955399.1:p.Leu80_His489delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyAlaSerLeuAspGlnLeuProSerGlnGlyThrMetArgLysLeuArgGlyLysThrProAlaCysSerCysLeuThrGluProThrGlySerArgArgAlaMetGluGlyHisSerLeuCysTrpGlyCysLeuLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044939" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "T", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XM_005256321.3:c.233T>A" ], "proteinEffect": { "hgvs": "XP_005256378.1:p.Leu78Ter", "hgvsWellDefined": "XP_005256378.1:p.Leu80_Asp463delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspValPheTyrAlaGluIleGluGluLeuLysLeuValTyrProTyrHisGlyValLeuHisSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061265" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "T", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XM_006721264.2:c.233T>A" ], "proteinEffect": { "hgvs": "XP_006721327.1:p.Leu78Ter", "hgvsWellDefined": "XP_006721327.1:p.Leu80_Leu809delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaArgAlaLeuCysValThrTrpGlySerCysLeuGlyProLeuAspCysArgProGlnProAlaAlaAlaAlaSerGlyGlnValTrpAlaValProSerProAlaGluAlaGlyLeuProValAspProCysSerSerArgLeuThrLysGlnLeuCysArgAlaArgAlaHisHisSerGlySerHisAsnGlySerLysAlaAlaAlaGlyLysArgProSerGlyLysGlySerAspLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074017" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "T", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XM_011523306.1:c.233T>A" ], "proteinEffect": { "hgvs": "XP_011521608.1:p.Leu78Ter", "hgvsWellDefined": "XP_011521608.1:p.Leu80_Ser511delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnArgLysGlyValAlaLeuSerProArgLeuGluCysSerAlaAlaIleThrThrHisCysGlyLeuAsnLeuGlnGlySerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090445" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "T", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XM_011523307.1:c.233T>A" ], "proteinEffect": { "hgvs": "XP_011521609.1:p.Leu78Ter", "hgvsWellDefined": "XP_011521609.1:p.Leu80_Lys470delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspValPheTyrAlaGluIleGluGluLeuLysLeuValAsnArgArgAlaGluThrGlyValSerLeuSerArgCysCysThrGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090446" }, { "@id": "http://reg.genome.network/allele/PA2828120784", "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "T", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "NM_001363850.1:c.233T>A" ], "proteinEffect": { "hgvs": "NP_001350779.1:p.Leu78Ter", "hgvsWellDefined": "NP_001350779.1:p.Leu80_Leu809delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaArgAlaLeuCysValThrTrpGlySerCysLeuGlyProLeuAspCysArgProGlnProAlaAlaAlaAlaSerGlyGlnValTrpAlaValProSerProAlaGluAlaGlyLeuProValAspProCysSerSerArgLeuThrLysGlnLeuCysArgAlaArgAlaHisHisSerGlySerHisAsnGlySerLysAlaAlaAlaGlyLysArgProSerGlyLysGlySerAspLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523600" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "T", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XM_005256321.4:c.233T>A" ], "proteinEffect": { "hgvs": "XP_005256378.1:p.Leu78Ter", "hgvsWellDefined": "XP_005256378.1:p.Leu80_Asp463delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspValPheTyrAlaGluIleGluGluLeuLysLeuValTyrProTyrHisGlyValLeuHisSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534457" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "T", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XM_006721264.4:c.233T>A" ], "proteinEffect": { "hgvs": "XP_006721327.1:p.Leu78Ter", "hgvsWellDefined": "XP_006721327.1:p.Leu80_Leu809delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaArgAlaLeuCysValThrTrpGlySerCysLeuGlyProLeuAspCysArgProGlnProAlaAlaAlaAlaSerGlyGlnValTrpAlaValProSerProAlaGluAlaGlyLeuProValAspProCysSerSerArgLeuThrLysGlnLeuCysArgAlaArgAlaHisHisSerGlySerHisAsnGlySerLysAlaAlaAlaGlyLysArgProSerGlyLysGlySerAspLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540268" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "T", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XM_017023597.1:c.233T>A" ], "proteinEffect": { "hgvs": "XP_016879086.1:p.Leu78Ter", "hgvsWellDefined": "XP_016879086.1:p.Leu80_Gln618delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaAlaTrpValTrpTrpAlaGlnProSerProSerLeuMetGlyAlaGluLeuGlnProLeuThrValGlyArgArgAlaAlaAlaAlaArgGlyCysGlyGlyThrAlaValLeuSerAlaGlnGlnGlyLeuCysGlyGluValTrpIleCysSerThrThrSerGlyGluThrHisGlyProAspArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574332" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "T", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XM_017023598.1:c.233T>A" ], "proteinEffect": { "hgvs": "XP_016879087.1:p.Leu78Ter", "hgvsWellDefined": "XP_016879087.1:p.Leu80_Leu561delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaValTrpGlyLeuArgArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574333" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "T", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XR_001751971.2:n.272T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598747" }, { "coordinates": [ { "allele": "A", "end": 272, "referenceAllele": "T", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "XR_001751972.2:n.272T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598748" }, { "@id": "http://reg.genome.network/allele/PA253967", "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "NM_003119.4:c.233T>A" ], "proteinEffect": { "hgvs": "NP_003110.1:p.Leu78Ter", "hgvsWellDefined": "NP_003110.1:p.Leu80_Lys795delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyMetGlyThrThrAspHisValIleValLeuAlaSerThrAsnArgAlaAspIleLeuAspGlyAlaLeuMetArgProGlyArgLeuAspArgHisValPheIleAspLeuProThrLeuGlnGluArgArgGluIlePheGluGlnHisLeuLysSerLeuLysLeuThrGlnSerSerThrPheTyrSerGlnArgLeuAlaGluLeuThrProGlyPheSerGlyAlaAspIleAlaAsnIleCysAsnGluAlaAlaLeuHisAlaAlaArgGluGlyHisThrSerValHisThrLeuAsnPheGluTyrAlaValGluArgValLeuAlaGlyThrAlaLysLysSerLysIleLeuSerLysGluGluGlnLysValValAlaPheHisGluSerGlyHisAlaLeuValGlyTrpMetLeuGluHisThrGluAlaValMetLysValSerIleThrProArgThrAsnAlaAlaLeuGlyPheAlaGlnMetLeuProArgAspGlnHisLeuPheThrLysGluGlnLeuPheGluArgMetCysMetAlaLeuGlyGlyArgAlaSerGluAlaLeuSerPheAsnGluValThrSerGlyAlaGlnAspAspLeuArgLysValThrArgIleAlaTyrSerMetValLysGlnPheGlyMetAlaProGlyIleGlyProIleSerPheProGluAlaGlnGluGlyLeuMetGlyIleGlyArgArgProPheSerGlnGlyLeuGlnGlnMetMetAspHisGluAlaArgLeuLeuValAlaLysAlaTyrArgHisThrGluLysValLeuGlnAspAsnLeuAspLysLeuGlnAlaLeuAlaAsnAlaLeuLeuGluLysGluValIleAsnTyrGluAspIleGluAlaLeuIleGlyProProProHisGlyProLysLysMetIleAlaProGlnArgTrpIleAspAlaGlnArgGluLysGlnAspLeuGlyGluGluGluThrGluGluThrGlnGlnProProLeuGlyGlyGluGluProThrTrpProLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695736", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000645818.2:c.233T>A" }, "RefSeq": { "hgvs": "NM_003119.4:c.233T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495795.2:p.Leu78Ter" }, "RefSeq": { "hgvs": "NP_003110.1:p.Leu78Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645463218", "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "T", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN011237", "geneNCBI_id": 6687, "geneSymbol": "SPG7", "hgvs": [ "NM_199367.3:c.233T>A" ], "proteinEffect": { "hgvs": "NP_955399.1:p.Leu78Ter", "hgvsWellDefined": "NP_955399.1:p.Leu80_His489delinsLysGlnHisLeuValGlnAsnProValArgLeuTrpGlnLeuLeuGlyGlyThrPheTyrPheAsnThrSerArgLeuLysGlnLysAsnLysGluLysAspLysSerLysGlyLysAlaProGluGluAspGluGluGluArgArgArgArgGluArgAspAspGlnMetTyrArgGluArgLeuArgThrLeuLeuValIleAlaValValMetSerLeuLeuAsnAlaLeuSerThrSerGlyGlySerIleSerTrpAsnAspPheValHisGluMetLeuAlaLysGlyGluValGlnArgValGlnValValProGluSerAspValValGluValTyrLeuHisProGlyAlaValValPheGlyArgProArgLeuAlaLeuMetTyrArgMetGlnValAlaAsnIleAspLysPheGluGluLysLeuArgAlaAlaGluAspGluLeuAsnIleGluAlaLysAspArgIleProValSerTyrLysArgThrGlyPhePheGlyAsnAlaLeuTyrSerValGlyMetThrAlaValGlyLeuAlaIleLeuTrpTyrValPheArgLeuAlaGlyMetThrGlyArgGluGlyGlyPheSerAlaPheAsnGlnLeuLysMetAlaArgPheThrIleValAspGlyLysMetGlyLysGlyValSerPheLysAspValAlaGlyMetHisGluAlaLysLeuGluValArgGluPheValAspTyrLeuLysSerProGluArgPheLeuGlnLeuGlyAlaLysValProLysGlyAlaLeuLeuLeuGlyProProGlyCysGlyLysThrLeuLeuAlaLysAlaValAlaThrGluAlaGlnValProPheLeuAlaMetAlaGlyProGluPheValGluValIleGlyGlyLeuGlyAlaAlaArgValArgSerLeuPheLysGluAlaArgAlaArgAlaProCysIleValTyrIleAspGluIleAspAlaValGlyLysLysArgSerThrThrMetSerGlyPheSerAsnThrGluGluGluGlnThrLeuAsnGlnLeuLeuValGluMetAspGlyAlaSerLeuAspGlnLeuProSerGlnGlyThrMetArgLysLeuArgGlyLysThrProAlaCysSerCysLeuThrGluProThrGlySerArgArgAlaMetGluGlyHisSerLeuCysTrpGlyCysLeuLeuHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701501" } ], "type": "nucleotide" }