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"NP_001157752.1:p.Gln73_Glu429delinsMetSerAlaArgTrpLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014490" }, { "@id": "http://reg.genome.network/allele/PA1139705379", "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "C", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001467.5:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001458.1:p.Gln73Ter", "hgvsWellDefined": "NP_001458.1:p.Gln73_Glu429delinsMetSerAlaArgTrpLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026849" }, { "@id": "http://reg.genome.network/allele/PA2825971549", "coordinates": [ { "allele": "T", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164278.2:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001157750.1:p.Gln73Ter", "hgvsWellDefined": "NP_001157750.1:p.Gln73_Glu451delinsMetSerAlaArgTrpLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysAspValAlaPheTrpThrLeuAlaLeuHisProLeuAlaGluLeuThrGlyPheThrGluHisGluLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663840" }, { "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164279.2:c.-3C>T" ], "proteinEffect": { "hgvs": "NP_001157751.1:n.-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS663841" }, { "@id": "http://reg.genome.network/allele/PA2825972458", "coordinates": [ { "allele": "T", "end": 328, "referenceAllele": "C", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164280.2:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001157752.1:p.Gln73Ter", "hgvsWellDefined": "NP_001157752.1:p.Gln73_Glu429delinsMetSerAlaArgTrpLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663842" }, { "@id": "http://reg.genome.network/allele/PA1139705379", "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001467.6:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001458.1:p.Gln73Ter", "hgvsWellDefined": "NP_001458.1:p.Gln73_Glu429delinsMetSerAlaArgTrpLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665005" }, { "@id": "http://reg.genome.network/allele/PA2825971119", "coordinates": [ { "allele": "T", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164277.2:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001157749.1:p.Gln73Ter", "hgvsWellDefined": "NP_001157749.1:p.Gln73_Glu429delinsMetSerAlaArgTrpLeuPheSerSerGlyLeuLeuLeuValGlyLeuValAsnIlePhePheAlaTrpSerSerThrValProValPheAlaAlaLeuTrpPheLeuAsnGlyLeuAlaGlnGlyLeuGlyTrpProProCysGlyLysValLeuArgLysTrpPheGluProSerGlnPheGlyThrTrpTrpAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713070", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642844.3:c.217C>T" }, "RefSeq": { "hgvs": "NM_001164277.2:c.217C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493469.1:p.Gln73Ter" }, "RefSeq": { "hgvs": "NP_001157749.1:p.Gln73Ter" } } } } ], "type": "nucleotide" }