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"NP_001158089.1:p.Ser325_His603delinsThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrGluThrGluLysLysIleTrpHisPheLysTyrProIlePhePheLeuCysIleGlyLeuAspLeuGlnIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678349" }, { "@id": "http://reg.genome.network/allele/PA2825996643", "coordinates": [ { "allele": "A", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN004451", "geneNCBI_id": 2719, "geneSymbol": "GPC3", "hgvs": [ "NM_001164618.2:c.926C>A" ], "proteinEffect": { "hgvs": "NP_001158090.1:p.Ser309Ter", "hgvsWellDefined": "NP_001158090.1:p.Ser309_His564delinsThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678350" }, { "@id": "http://reg.genome.network/allele/PA2825997258", "coordinates": [ { "allele": "A", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN004451", "geneNCBI_id": 2719, "geneSymbol": "GPC3", "hgvs": [ "NM_001164619.2:c.812C>A" ], "proteinEffect": { "hgvs": "NP_001158091.1:p.Ser271Ter", "hgvsWellDefined": "NP_001158091.1:p.Ser271_His526delinsThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678351" }, { "@id": "http://reg.genome.network/allele/PA658828617", "coordinates": [ { "allele": "A", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN004451", "geneNCBI_id": 2719, "geneSymbol": "GPC3", "hgvs": [ "NM_004484.4:c.974C>A" ], "proteinEffect": { "hgvs": "NP_004475.1:p.Ser325Ter", "hgvsWellDefined": "NP_004475.1:p.Ser325_His580delinsThrIleHisAspSerIleGlnTyrValGlnLysAsnAlaGlyLysLeuThrThrThrIleGlyLysLeuCysAlaHisSerGlnGlnArgGlnTyrArgSerAlaTyrTyrProGluAspLeuPheIleAspLysLysValLeuLysValAlaHisValGluHisGluGluThrLeuSerSerArgArgArgGluLeuIleGlnLysLeuLysSerPheIleSerPheTyrSerAlaLeuProGlyTyrIleCysSerHisSerProValAlaGluAsnAspThrLeuCysTrpAsnGlyGlnGluLeuValGluArgTyrSerGlnLysAlaAlaArgAsnGlyMetLysAsnGlnPheAsnLeuHisGluLeuLysMetLysGlyProGluProValValSerGlnIleIleAspLysLeuLysHisIleAsnGlnLeuLeuArgThrMetSerMetProLysGlyArgValLeuAspLysAsnLeuAspGluGluGlyPheGluSerGlyAspCysGlyAspAspGluAspGluCysIleGlyGlySerGlyAspGlyMetIleLysValLysAsnGlnLeuArgPheLeuAlaGluLeuAlaTyrAspLeuAspValAspAspAlaProGlyAsnSerGlnGlnAlaThrProLysAspAsnGluIleSerThrPheHisAsnLeuGlyAsnValHisSerProLeuLysLeuLeuThrSerMetAlaIleSerValValCysPhePhePheLeuValHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696153", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000370818.8:c.974C>A" }, "RefSeq": { "hgvs": "NM_004484.4:c.974C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000359854.3:p.Ser325Ter" }, "RefSeq": { "hgvs": "NP_004475.1:p.Ser325Ter" } } } } ], "type": "nucleotide" }