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"NP_001308198.1:p.Arg282_Asp561delinsValPheLysAspLeuTyrGlyArgHisLysGluTyrLeuSerSerLeuValGlyThrAspPheGluMetThrValProGlyAlaLeuArgLeuPheValAsnGlyGluValValSerAlaGlnGlyTyrGluTyrAspAsnLeuTyrValHisPhePheValGluLeuProThrAlaHisTrpSerSerProAlaPheGlnGlnLeuSerGlyValThrGlnThrCysThrThrLysSerLeuAlaMetAspLysValAlaHisPheSerTyrProPheThrPheGluAlaPhePheLeuHisGluAspGluSerSerAspAlaLeuProGluTrpProValLeuTyrCysGluValLeuSerLeuAspPheTrpGlnArgTyrArgValGluGlyTyrGlyAlaValValLeuProAlaThrProGlySerHisThrLeuThrValSerThrTrpArgProValGluLeuGlyThrValAlaGluLeuArgArgPhePheIleGlyGlySerLeuGluLeuGluAspLeuSerTyrValArgIleProGlySerPheLysGlyLeuHisGlyIleGluLeuProSerGluLysAspAlaGluCysValGlyProSerGlyArgValGlnProAlaGluPheHisSerGlnCysAlaArgGlyLeuProSerSerProAlaProHisAlaGlyGlyProGlyLysProProAlaGlyProSerGluProLeuTrpAsnProGlyLeuLeuAlaHisSerSerProGlyProGlnCysLysArgThrArgTrpGlyIleSerGluAlaSerAlaLeuLeuProLeuArgLeuSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685283" }, { "@id": "http://reg.genome.network/allele/PA2827310930", "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN007121", "geneNCBI_id": 54903, "geneSymbol": "MKS1", "hgvs": [ "NM_001330397.2:c.844C>T" ], "proteinEffect": { "hgvs": "NP_001317326.1:p.Arg282Ter", "hgvsWellDefined": "NP_001317326.1:p.Arg282_Cys456delinsValPheLysAspLeuTyrGlyArgHisLysGluTyrLeuSerSerLeuValGlyThrAspPheGluMetThrValProGlyAlaLeuArgLeuPheValAsnGlyGluValValSerAlaGlnGlyTyrGluTyrAspAsnLeuTyrValHisPhePheValGluLeuProThrAlaHisTrpSerSerProAlaPheGlnGlnLeuSerGlyValThrGlnThrCysThrThrLysSerLeuAlaMetAspLysValAlaHisPheSerTyrProPheThrPheGluAlaPhePheLeuHisGluAspGluSerSerAspAlaLeuProGluTrpProValLeuTyrCysGluValLeuSerLeuAspPheTrpGlnArgTyrArgValGluGlyTyrGlyAlaValValLeuProAlaThrProGlyProSerTrpAsnArgAlaProPheArgLysGlyCysGlyValCysTrpThrValTrpLysGlySerAlaSerArgValProPheThrMetCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686913" }, { "@id": "http://reg.genome.network/allele/PA347421", "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN007121", "geneNCBI_id": 54903, "geneSymbol": "MKS1", "hgvs": [ "NM_017777.4:c.844C>T" ], "proteinEffect": { "hgvs": "NP_060247.2:p.Arg282Ter", "hgvsWellDefined": "NP_060247.2:p.Arg282_Ser559delinsValPheLysAspLeuTyrGlyArgHisLysGluTyrLeuSerSerLeuValGlyThrAspPheGluMetThrValProGlyAlaLeuArgLeuPheValAsnGlyGluValValSerAlaGlnGlyTyrGluTyrAspAsnLeuTyrValHisPhePheValGluLeuProThrAlaHisTrpSerSerProAlaPheGlnGlnLeuSerGlyValThrGlnThrCysThrThrLysSerLeuAlaMetAspLysValAlaHisPheSerTyrProPheThrPheGluAlaPhePheLeuHisGluAspGluSerSerAspAlaLeuProGluTrpProValLeuTyrCysGluValLeuSerLeuAspPheTrpGlnArgTyrArgValGluGlyTyrGlyAlaValValLeuProAlaThrProGlySerHisThrLeuThrValSerThrTrpArgProValGluLeuGlyThrValAlaGluLeuArgArgPhePheIleGlyGlySerLeuGluLeuGluAspLeuSerTyrValArgIleProGlySerPheLysGlyGluArgLeuSerArgPheGlyLeuArgThrGluThrThrGlyThrValThrPheArgLeuHisCysLeuGlnGlnSerArgAlaPheMetGluSerSerSerLeuGlnLysArgMetArgSerValLeuAspArgLeuGluGlyPheSerGlnGlnSerSerIleHisAsnValLeuGluAlaPheArgArgAlaArgArgArgMetGlnGluAlaArgGluSerLeuProGlnAspLeuValSerProSerGlyThrLeuValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393119.7:c.844C>T" }, "RefSeq": { "hgvs": "NM_017777.4:c.844C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376827.2:p.Arg282Ter" }, "RefSeq": { "hgvs": "NP_060247.2:p.Arg282Ter" } } } } ], "type": "nucleotide" }