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}, "referenceSequence": "http://reg.genome.network/refseq/RS014488" }, { "@id": "http://reg.genome.network/allele/PA2825971945", "coordinates": [ { "allele": "A", "end": 416, "referenceAllele": "G", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164279.1:c.14G>A" ], "proteinEffect": { "hgvs": "NP_001157751.1:p.Trp5Ter", "hgvsWellDefined": "NP_001157751.1:p.Trp5_Glu356delinsLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014489" }, { "@id": "http://reg.genome.network/allele/PA2825972469", "coordinates": [ { "allele": "A", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164280.1:c.233G>A" ], "proteinEffect": { "hgvs": "NP_001157752.1:p.Trp78Ter", "hgvsWellDefined": "NP_001157752.1:p.Trp78_Glu429delinsLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014490" }, { "@id": "http://reg.genome.network/allele/PA1139705387", "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001467.5:c.233G>A" ], "proteinEffect": { "hgvs": "NP_001458.1:p.Trp78Ter", "hgvsWellDefined": "NP_001458.1:p.Trp78_Glu429delinsLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026849" }, { "@id": "http://reg.genome.network/allele/PA2825971560", "coordinates": [ { "allele": "A", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164278.2:c.233G>A" ], "proteinEffect": { "hgvs": "NP_001157750.1:p.Trp78Ter", "hgvsWellDefined": "NP_001157750.1:p.Trp78_Glu451delinsLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysAspValAlaPheTrpThrLeuAlaLeuHisProLeuAlaGluLeuThrGlyPheThrGluHisGluLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663840" }, { "@id": "http://reg.genome.network/allele/PA2825971945", "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "G", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164279.2:c.14G>A" ], "proteinEffect": { "hgvs": "NP_001157751.1:p.Trp5Ter", "hgvsWellDefined": "NP_001157751.1:p.Trp5_Glu356delinsLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663841" }, { "@id": "http://reg.genome.network/allele/PA2825972469", "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "G", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164280.2:c.233G>A" ], "proteinEffect": { "hgvs": "NP_001157752.1:p.Trp78Ter", "hgvsWellDefined": "NP_001157752.1:p.Trp78_Glu429delinsLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663842" }, { "@id": "http://reg.genome.network/allele/PA1139705387", "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "G", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001467.6:c.233G>A" ], "proteinEffect": { "hgvs": "NP_001458.1:p.Trp78Ter", "hgvsWellDefined": "NP_001458.1:p.Trp78_Glu429delinsLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665005" }, { "@id": "http://reg.genome.network/allele/PA2825971128", "coordinates": [ { "allele": "A", "end": 961, "referenceAllele": "G", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164277.2:c.233G>A" ], "proteinEffect": { "hgvs": "NP_001157749.1:p.Trp78Ter", "hgvsWellDefined": "NP_001157749.1:p.Trp78_Glu429delinsLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713070", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642844.3:c.233G>A" }, "RefSeq": { "hgvs": "NM_001164277.2:c.233G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493469.1:p.Trp78Ter" }, "RefSeq": { "hgvs": "NP_001157749.1:p.Trp78Ter" } } } } ], "type": "nucleotide" }