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"XM_011523795.3:c.1022G>A" ], "proteinEffect": { "hgvs": "XP_011522097.1:p.Trp341Ter", "hgvsWellDefined": "XP_011522097.1:p.Trp341_Asp498delinsLeuThrValAlaTrpValGluGlyGluThrLysTyrValSerAspAlaThrValAlaIlePheValAlaThrLeuLeuPheIleValProSerGlnLysProLysPheAsnPheArgSerGlnThrGluGluGluArgLysThrProPheTyrProProProLeuLeuAspTrpLysValThrGlnGluLysValProTrpGlyIleValLeuLeuLeuGlyGlyGlyPheAlaLeuAlaLysGlySerGluAlaSerGlyLeuSerValTrpMetGlyLysGlnMetGluProLeuHisAlaValProProAlaAlaIleThrLeuIleLeuSerLeuLeuValAlaValPheThrGluCysThrSerAsnValAlaThrThrThrLeuPheLeuProIlePheAlaSerMetCysSerValGlyGlyIleIleCysGlnArgArgGlyLysArgGluArgAsnGlnAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547180" }, { "@id": "http://reg.genome.network/allele/PA2825858155", "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "G", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN023089", "geneNCBI_id": 284111, "geneSymbol": "SLC13A5", "hgvs": [ "NM_001143838.3:c.1022G>A" ], "proteinEffect": { 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"proteinEffect": { "hgvs": "NP_001271438.1:p.Trp324Ter", "hgvsWellDefined": "NP_001271438.1:p.Trp324_Thr551delinsLeuThrValAlaTrpValGluGlyGluThrLysTyrValSerAspAlaThrValAlaIlePheValAlaThrLeuLeuPheIleValProSerGlnLysProLysPheAsnPheArgSerGlnThrGluGluGluArgLysThrProPheTyrProProProLeuLeuAspTrpLysValThrGlnGluLysValProTrpGlyIleValLeuLeuLeuGlyGlyGlyPheAlaLeuAlaLysGlySerGluAlaSerGlyLeuSerValTrpMetGlyLysGlnMetGluProLeuHisAlaValProProAlaAlaIleThrLeuIleLeuSerLeuLeuValAlaValPheThrGluCysThrSerAsnValAlaThrThrThrLeuPheLeuProIlePheAlaSerMetSerArgSerIleGlyLeuAsnProLeuTyrIleMetLeuProCysThrLeuSerAlaSerPheAlaPheMetLeuProValAlaThrProProAsnAlaIleValPheThrTyrGlyHisLeuLysValAlaAspMetValLysThrGlyValIleMetAsnIleIleGlyValPheCysValPheLeuAlaValAsnThrTrpGlyArgAlaIlePheAspLeuAspHisPheProAspTrpAlaAsnValThrHisIleGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682099" }, { "@id": "http://reg.genome.network/allele/PA2826692605", "coordinates": [ { "allele": "A", "end": 929, "referenceAllele": "G", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN023089", "geneNCBI_id": 284111, "geneSymbol": "SLC13A5", "hgvs": [ "NM_001284510.2:c.893G>A" ], "proteinEffect": { "hgvs": "NP_001271439.1:p.Trp298Ter", "hgvsWellDefined": "NP_001271439.1:p.Trp298_Thr525delinsLeuThrValAlaTrpValGluGlyGluThrLysTyrValSerAspAlaThrValAlaIlePheValAlaThrLeuLeuPheIleValProSerGlnLysProLysPheAsnPheArgSerGlnThrGluGluGluArgLysThrProPheTyrProProProLeuLeuAspTrpLysValThrGlnGluLysValProTrpGlyIleValLeuLeuLeuGlyGlyGlyPheAlaLeuAlaLysGlySerGluAlaSerGlyLeuSerValTrpMetGlyLysGlnMetGluProLeuHisAlaValProProAlaAlaIleThrLeuIleLeuSerLeuLeuValAlaValPheThrGluCysThrSerAsnValAlaThrThrThrLeuPheLeuProIlePheAlaSerMetSerArgSerIleGlyLeuAsnProLeuTyrIleMetLeuProCysThrLeuSerAlaSerPheAlaPheMetLeuProValAlaThrProProAsnAlaIleValPheThrTyrGlyHisLeuLysValAlaAspMetValLysThrGlyValIleMetAsnIleIleGlyValPheCysValPheLeuAlaValAsnThrTrpGlyArgAlaIlePheAspLeuAspHisPheProAspTrpAlaAsnValThrHisIleGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682100" }, { "@id": "http://reg.genome.network/allele/PA061359", "coordinates": [ { "allele": "A", "end": 1058, "referenceAllele": "G", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN023089", "geneNCBI_id": 284111, "geneSymbol": "SLC13A5", "hgvs": [ "NM_177550.5:c.1022G>A" ], "proteinEffect": { "hgvs": "NP_808218.1:p.Trp341Ter", "hgvsWellDefined": "NP_808218.1:p.Trp341_Thr568delinsLeuThrValAlaTrpValGluGlyGluThrLysTyrValSerAspAlaThrValAlaIlePheValAlaThrLeuLeuPheIleValProSerGlnLysProLysPheAsnPheArgSerGlnThrGluGluGluArgLysThrProPheTyrProProProLeuLeuAspTrpLysValThrGlnGluLysValProTrpGlyIleValLeuLeuLeuGlyGlyGlyPheAlaLeuAlaLysGlySerGluAlaSerGlyLeuSerValTrpMetGlyLysGlnMetGluProLeuHisAlaValProProAlaAlaIleThrLeuIleLeuSerLeuLeuValAlaValPheThrGluCysThrSerAsnValAlaThrThrThrLeuPheLeuProIlePheAlaSerMetSerArgSerIleGlyLeuAsnProLeuTyrIleMetLeuProCysThrLeuSerAlaSerPheAlaPheMetLeuProValAlaThrProProAsnAlaIleValPheThrTyrGlyHisLeuLysValAlaAspMetValLysThrGlyValIleMetAsnIleIleGlyValPheCysValPheLeuAlaValAsnThrTrpGlyArgAlaIlePheAspLeuAspHisPheProAspTrpAlaAsnValThrHisIleGluThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700795", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000433363.7:c.1022G>A" }, "RefSeq": { "hgvs": "NM_177550.5:c.1022G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000406220.2:p.Trp341Ter" }, "RefSeq": { "hgvs": "NP_808218.1:p.Trp341Ter" } } } } ], "type": "nucleotide" }