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"NP_002078.1:p.Trp2_Leu593delinsThrLeuValSerTrpValAlaLeuThrAlaGlyLeuValAlaGlyThrArgCysProAspGlyGlnPheCysProValAlaCysCysLeuAspProGlyGlyAlaSerTyrSerCysCysArgProLeuLeuAspLysTrpProThrThrLeuSerArgHisLeuGlyGlyProCysGlnValAspAlaHisCysSerAlaGlyHisSerCysIlePheThrValSerGlyThrSerSerCysCysProPheProGluAlaValAlaCysGlyAspGlyHisHisCysCysProArgGlyPheHisCysSerAlaAspGlyArgSerCysPheGlnArgSerGlyAsnAsnSerValGlyAlaIleGlnCysProAspSerGlnPheGluCysProAspPheSerThrCysCysValMetValAspGlySerTrpGlyCysCysProMetProGlnAlaSerCysCysGluAspArgValHisCysCysProHisGlyAlaPheCysAspLeuValHisThrArgCysIleThrProThrGlyThrHisProLeuAlaLysLysLeuProAlaGlnArgThrAsnArgAlaValAlaLeuSerSerSerValMetCysProAspAlaArgSerArgCysProAspGlySerThrCysCysGluLeuProSerGlyLysTyrGlyCysCysProMetProAsnAlaThrCysCysSerAspHisLeuHisCysCysProGlnAspThrValCysAspLeuIleGlnSerLysCysLeuSerLysGluAsnAlaThrThrAspLeuLeuThrLysLeuProAlaHisThrValGlyAspValLysCysAspMetGluValSerCysProAspGlyTyrThrCysCysArgLeuGlnSerGlyAlaTrpGlyCysCysProPheThrGlnAlaValCysCysGluAspHisIleHisCysCysProAlaGlyPheThrCysAspThrGlnLysGlyThrCysGluGlnGlyProHisGlnValProTrpMetGluLysAlaProAlaHisLeuSerLeuProAspProGlnAlaLeuLysArgAspValProCysAspAsnValSerSerCysProSerSerAspThrCysCysGlnLeuThrSerGlyGluTrpGlyCysCysProIleProGluAlaValCysCysSerAspHisGlnHisCysCysProGlnGlyTyrThrCysValAlaGluGlyGlnCysGlnArgGlySerGluIleValAlaGlyLeuGluLysMetProAlaArgArgAlaSerLeuSerHisProArgAspIleGlyCysAspGlnHisThrSerCysProValGlyGlnThrCysCysProSerLeuGlyGlySerTrpAlaCysCysGlnLeuProHisAlaValCysCysGluAspArgGlnHisCysCysProAlaGlyTyrThrCysAsnValLysAlaArgSerCysGluLysGluValValSerAlaGlnProAlaThrPheLeuAlaArgSerProHisValGlyValLysAspValGluCysGlyGluGlyHisPheCysHisAspAsnGlnThrCysCysArgAspAsnArgGlnGlyTrpAlaCysCysProTyrArgGlnGlyValCysCysAlaAspArgArgHisCysCysProAlaGlyPheArgCysAlaAlaArgGlyThrLysCysLeuArgArgGluAlaProArgTrpAspAlaProLeuArgAspProAlaLeuArgGlnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027411" }, { "coordinates": [ { "allele": "A", "end": 307, "referenceAllele": "G", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN004601", "geneNCBI_id": 2896, "geneSymbol": "GRN", "hgvs": [ "XM_005257253.1:c.6G>A" ], "proteinEffect": { "hgvs": "XP_005257310.1:p.Trp2Ter", "hgvsWellDefined": "XP_005257310.1:p.Trp2_Leu593delinsThrLeuValSerTrpValAlaLeuThrAlaGlyLeuValAlaGlyThrArgCysProAspGlyGlnPheCysProValAlaCysCysLeuAspProGlyGlyAlaSerTyrSerCysCysArgProLeuLeuAspLysTrpProThrThrLeuSerArgHisLeuGlyGlyProCysGlnValAspAlaHisCysSerAlaGlyHisSerCysIlePheThrValSerGlyThrSerSerCysCysProPheProGluAlaValAlaCysGlyAspGlyHisHisCysCysProArgGlyPheHisCysSerAlaAspGlyArgSerCysPheGlnArgSerGlyAsnAsnSerValGlyAlaIleGlnCysProAspSerGlnPheGluCysProAspPheSerThrCysCysValMetValAspGlySerTrpGlyCysCysProMetProGlnAlaSerCysCysGluAspArgValHisCysCysProHisGlyAlaPheCysAspLeuValHisThrArgCysIleThrProThrGlyThrHisProLeuAlaLysLysLeuProAlaGlnArgThrAsnArgAlaValAlaLeuSerSerSerValMetCysProAspAlaArgSerArgCysProAspGlySerThrCysCysGluLeuProSerGlyLysTyrGlyCysCysProMetProAsnAlaThrCysCysSerAspHisLeuHisCysCysProGlnAspThrValCysAspLeuIleGlnSerLysCysLeuSerLysGluAsnAlaThrThrAspLeuLeuThrLysLeuProAlaHisThrValGlyAspValLysCysAspMetGluValSerCysProAspGlyTyrThrCysCysArgLeuGlnSerGlyAlaTrpGlyCysCysProPheThrGlnAlaValCysCysGluAspHisIleHisCysCysProAlaGlyPheThrCysAspThrGlnLysGlyThrCysGluGlnGlyProHisGlnValProTrpMetGluLysAlaProAlaHisLeuSerLeuProAspProGlnAlaLeuLysArgAspValProCysAspAsnValSerSerCysProSerSerAspThrCysCysGlnLeuThrSerGlyGluTrpGlyCysCysProIleProGluAlaValCysCysSerAspHisGlnHisCysCysProGlnGlyTyrThrCysValAlaGluGlyGlnCysGlnArgGlySerGluIleValAlaGlyLeuGluLysMetProAlaArgArgAlaSerLeuSerHisProArgAspIleGlyCysAspGlnHisThrSerCysProValGlyGlnThrCysCysProSerLeuGlyGlySerTrpAlaCysCysGlnLeuProHisAlaValCysCysGluAspArgGlnHisCysCysProAlaGlyTyrThrCysAsnValLysAlaArgSerCysGluLysGluValValSerAlaGlnProAlaThrPheLeuAlaArgSerProHisValGlyValLysAspValGluCysGlyGluGlyHisPheCysHisAspAsnGlnThrCysCysArgAspAsnArgGlnGlyTrpAlaCysCysProTyrArgGlnGlyValCysCysAlaAspArgArgHisCysCysProAlaGlyPheArgCysAlaAlaArgGlyThrLysCysLeuArgArgGluAlaProArgTrpAspAlaProLeuArgAspProAlaLeuArgGlnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061634" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN004601", "geneNCBI_id": 2896, "geneSymbol": "GRN", "hgvs": [ "XM_024450730.1:c.6G>A" ], "proteinEffect": { "hgvs": "XP_024306498.1:p.Trp2Ter", "hgvsWellDefined": "XP_024306498.1:p.Trp2_Leu593delinsThrLeuValSerTrpValAlaLeuThrAlaGlyLeuValAlaGlyThrArgCysProAspGlyGlnPheCysProValAlaCysCysLeuAspProGlyGlyAlaSerTyrSerCysCysArgProLeuLeuAspLysTrpProThrThrLeuSerArgHisLeuGlyGlyProCysGlnValAspAlaHisCysSerAlaGlyHisSerCysIlePheThrValSerGlyThrSerSerCysCysProPheProGluAlaValAlaCysGlyAspGlyHisHisCysCysProArgGlyPheHisCysSerAlaAspGlyArgSerCysPheGlnArgSerGlyAsnAsnSerValGlyAlaIleGlnCysProAspSerGlnPheGluCysProAspPheSerThrCysCysValMetValAspGlySerTrpGlyCysCysProMetProGlnAlaSerCysCysGluAspArgValHisCysCysProHisGlyAlaPheCysAspLeuValHisThrArgCysIleThrProThrGlyThrHisProLeuAlaLysLysLeuProAlaGlnArgThrAsnArgAlaValAlaLeuSerSerSerValMetCysProAspAlaArgSerArgCysProAspGlySerThrCysCysGluLeuProSerGlyLysTyrGlyCysCysProMetProAsnAlaThrCysCysSerAspHisLeuHisCysCysProGlnAspThrValCysAspLeuIleGlnSerLysCysLeuSerLysGluAsnAlaThrThrAspLeuLeuThrLysLeuProAlaHisThrValGlyAspValLysCysAspMetGluValSerCysProAspGlyTyrThrCysCysArgLeuGlnSerGlyAlaTrpGlyCysCysProPheThrGlnAlaValCysCysGluAspHisIleHisCysCysProAlaGlyPheThrCysAspThrGlnLysGlyThrCysGluGlnGlyProHisGlnValProTrpMetGluLysAlaProAlaHisLeuSerLeuProAspProGlnAlaLeuLysArgAspValProCysAspAsnValSerSerCysProSerSerAspThrCysCysGlnLeuThrSerGlyGluTrpGlyCysCysProIleProGluAlaValCysCysSerAspHisGlnHisCysCysProGlnGlyTyrThrCysValAlaGluGlyGlnCysGlnArgGlySerGluIleValAlaGlyLeuGluLysMetProAlaArgArgAlaSerLeuSerHisProArgAspIleGlyCysAspGlnHisThrSerCysProValGlyGlnThrCysCysProSerLeuGlyGlySerTrpAlaCysCysGlnLeuProHisAlaValCysCysGluAspArgGlnHisCysCysProAlaGlyTyrThrCysAsnValLysAlaArgSerCysGluLysGluValValSerAlaGlnProAlaThrPheLeuAlaArgSerProHisValGlyValLysAspValGluCysGlyGluGlyHisPheCysHisAspAsnGlnThrCysCysArgAspAsnArgGlnGlyTrpAlaCysCysProTyrArgGlnGlyValCysCysAlaAspArgArgHisCysCysProAlaGlyPheArgCysAlaAlaArgGlyThrLysCysLeuArgArgGluAlaProArgTrpAspAlaProLeuArgAspProAlaLeuArgGlnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584261" }, { "@id": "http://reg.genome.network/allele/PA658678035", "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "G", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN004601", "geneNCBI_id": 2896, "geneSymbol": "GRN", "hgvs": [ "NM_002087.4:c.6G>A" ], "proteinEffect": { "hgvs": "NP_002078.1:p.Trp2Ter", "hgvsWellDefined": "NP_002078.1:p.Trp2_Leu593delinsThrLeuValSerTrpValAlaLeuThrAlaGlyLeuValAlaGlyThrArgCysProAspGlyGlnPheCysProValAlaCysCysLeuAspProGlyGlyAlaSerTyrSerCysCysArgProLeuLeuAspLysTrpProThrThrLeuSerArgHisLeuGlyGlyProCysGlnValAspAlaHisCysSerAlaGlyHisSerCysIlePheThrValSerGlyThrSerSerCysCysProPheProGluAlaValAlaCysGlyAspGlyHisHisCysCysProArgGlyPheHisCysSerAlaAspGlyArgSerCysPheGlnArgSerGlyAsnAsnSerValGlyAlaIleGlnCysProAspSerGlnPheGluCysProAspPheSerThrCysCysValMetValAspGlySerTrpGlyCysCysProMetProGlnAlaSerCysCysGluAspArgValHisCysCysProHisGlyAlaPheCysAspLeuValHisThrArgCysIleThrProThrGlyThrHisProLeuAlaLysLysLeuProAlaGlnArgThrAsnArgAlaValAlaLeuSerSerSerValMetCysProAspAlaArgSerArgCysProAspGlySerThrCysCysGluLeuProSerGlyLysTyrGlyCysCysProMetProAsnAlaThrCysCysSerAspHisLeuHisCysCysProGlnAspThrValCysAspLeuIleGlnSerLysCysLeuSerLysGluAsnAlaThrThrAspLeuLeuThrLysLeuProAlaHisThrValGlyAspValLysCysAspMetGluValSerCysProAspGlyTyrThrCysCysArgLeuGlnSerGlyAlaTrpGlyCysCysProPheThrGlnAlaValCysCysGluAspHisIleHisCysCysProAlaGlyPheThrCysAspThrGlnLysGlyThrCysGluGlnGlyProHisGlnValProTrpMetGluLysAlaProAlaHisLeuSerLeuProAspProGlnAlaLeuLysArgAspValProCysAspAsnValSerSerCysProSerSerAspThrCysCysGlnLeuThrSerGlyGluTrpGlyCysCysProIleProGluAlaValCysCysSerAspHisGlnHisCysCysProGlnGlyTyrThrCysValAlaGluGlyGlnCysGlnArgGlySerGluIleValAlaGlyLeuGluLysMetProAlaArgArgAlaSerLeuSerHisProArgAspIleGlyCysAspGlnHisThrSerCysProValGlyGlnThrCysCysProSerLeuGlyGlySerTrpAlaCysCysGlnLeuProHisAlaValCysCysGluAspArgGlnHisCysCysProAlaGlyTyrThrCysAsnValLysAlaArgSerCysGluLysGluValValSerAlaGlnProAlaThrPheLeuAlaArgSerProHisValGlyValLysAspValGluCysGlyGluGlyHisPheCysHisAspAsnGlnThrCysCysArgAspAsnArgGlnGlyTrpAlaCysCysProTyrArgGlnGlyValCysCysAlaAspArgArgHisCysCysProAlaGlyPheArgCysAlaAlaArgGlyThrLysCysLeuArgArgGluAlaProArgTrpAspAlaProLeuArgAspProAlaLeuArgGlnLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727242", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000053867.8:c.6G>A" }, "RefSeq": { "hgvs": "NM_002087.4:c.6G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000053867.2:p.Trp2Ter" }, "RefSeq": { "hgvs": "NP_002078.1:p.Trp2Ter" } } } } ], "type": "nucleotide" }