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"http://reg.genome.network/allele/PA2825805232", "coordinates": [ { "allele": "A", "end": 345, "referenceAllele": "G", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001142604.1:c.113G>A" ], "proteinEffect": { "hgvs": "NP_001136076.1:p.Trp38Ter", "hgvsWellDefined": "NP_001136076.1:p.Trp38_Gly203delinsHisGlyMetGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012999" }, { "coordinates": [ { "allele": "A", "end": 129, "referenceAllele": "G", "start": 128 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "XM_005271008.1:c.113G>A" ], "proteinEffect": { "hgvs": "XP_005271065.1:p.Trp38Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001363695.1:c.113G>A" ], "proteinEffect": { "hgvs": "NP_001350624.1:p.Trp38Ter", "hgvsWellDefined": "NP_001350624.1:p.Trp38_Gly282delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523489" }, { "@id": "http://reg.genome.network/allele/PA263460", "coordinates": [ { "allele": "A", "end": 127, "referenceAllele": "G", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_000310.4:c.113G>A" ], "proteinEffect": { "hgvs": "NP_000301.1:p.Trp38Ter", "hgvsWellDefined": "NP_000301.1:p.Trp38_Gly306delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674784", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642050.2:c.113G>A" }, "RefSeq": { "hgvs": "NM_000310.4:c.113G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493153.1:p.Trp38Ter" }, "RefSeq": { "hgvs": "NP_000301.1:p.Trp38Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825805232", "coordinates": [ { "allele": "A", "end": 127, "referenceAllele": "G", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001142604.2:c.113G>A" ], "proteinEffect": { "hgvs": "NP_001136076.1:p.Trp38Ter", "hgvsWellDefined": "NP_001136076.1:p.Trp38_Gly203delinsHisGlyMetGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluTrpPheGlyPheTyrArgSerGlyGlnAlaLysGluThrIleProLeuGlnGluThrSerLeuTyrThrGlnAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677588" }, { "@id": "http://reg.genome.network/allele/PA916043945", "coordinates": [ { "allele": "A", "end": 127, "referenceAllele": "G", "start": 126 } ], "gene": "http://reg.genome.network/gene/GN009325", "geneNCBI_id": 5538, "geneSymbol": "PPT1", "hgvs": [ "NM_001363695.2:c.113G>A" ], "proteinEffect": { "hgvs": "NP_001350624.1:p.Trp38Ter", "hgvsWellDefined": "NP_001350624.1:p.Trp38_Gly282delinsHisGlyMetGlyAspSerCysCysAsnProLeuSerMetGlyAlaIleLysLysMetValGluLysLysIleProGlyIleTyrValLeuSerLeuGluIleGlyLysThrLeuMetGluAspValGluAsnSerPhePheLeuAsnValAsnSerGlnValThrThrValCysGlnAlaLeuAlaLysAspProLysLeuGlnGlnGlyTyrAsnAlaMetGlyPheSerGlnGlyGlyGlnPheLeuArgAlaValAlaGlnArgCysProSerProProMetIleAsnLeuIleSerValGlyGlyGlnHisGlnGlyValPheGlyLeuProArgCysProGlyGluSerSerHisIleCysAspPheIleArgLysThrLeuAsnAlaGlyAlaTyrSerLysValValGlnGluArgLeuValGlnAlaGluTyrTrpHisAspProIleLysGluAspValTyrArgAsnHisSerIlePheLeuAlaAspIleAsnGlnGluArgGlyIleAsnGluSerTyrLysLysAsnLeuMetAlaLeuLysLysPheValMetValLysPheLeuAsnAspSerIleValAspProValAspSerGluAspArgLeuGlyLeuLysGluMetAspAsnAlaGlyGlnLeuValPheLeuAlaThrGluGlyAspHisLeuGlnLeuSerGluGluTrpPheTyrAlaHisIleIleProPheLeuGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690744" } ], "type": "nucleotide" }