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"XP_011542606.1:p.Trp277_Leu571delinsThrLeuIleValAlaValLeuLeuGlnAsnArgProSerMetAspPheAspAlaLeuValGluLysThrLeuTrpLeuLysGlyLeuThrGlnAlaPheGlyGlyPheLeuIleTrpProAspAsnLysProAlaGluGluValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555596" }, { "@id": "http://reg.genome.network/allele/PA2580371124", "coordinates": [ { "allele": "A", "end": 1325, "referenceAllele": "G", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN004416", "geneNCBI_id": 8443, "geneSymbol": "GNPAT", "hgvs": [ "NM_014236.4:c.1158G>A" ], "proteinEffect": { "hgvs": "NP_055051.1:p.Trp386Ter", "hgvsWellDefined": "NP_055051.1:p.Trp386_Leu680delinsThrLeuIleValAlaValLeuLeuGlnAsnArgProSerMetAspPheAspAlaLeuValGluLysThrLeuTrpLeuLysGlyLeuThrGlnAlaPheGlyGlyPheLeuIleTrpProAspAsnLysProAlaGluGluValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668244", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366647.9:c.1158G>A" }, "RefSeq": { "hgvs": "NM_014236.4:c.1158G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355607.4:p.Trp386Ter" }, "RefSeq": { "hgvs": "NP_055051.1:p.Trp386Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826956737", "coordinates": [ { "allele": "A", "end": 1142, "referenceAllele": "G", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN004416", "geneNCBI_id": 8443, "geneSymbol": "GNPAT", "hgvs": [ "NM_001316350.2:c.975G>A" ], "proteinEffect": { "hgvs": "NP_001303279.1:p.Trp325Ter", "hgvsWellDefined": "NP_001303279.1:p.Trp325_Leu619delinsThrLeuIleValAlaValLeuLeuGlnAsnArgProSerMetAspPheAspAlaLeuValGluLysThrLeuTrpLeuLysGlyLeuThrGlnAlaPheGlyGlyPheLeuIleTrpProAspAsnLysProAlaGluGluValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684175" } ], "type": "nucleotide" }