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"NP_001157751.1:p.Trp65_Glu356delinsAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014489" }, { "@id": "http://reg.genome.network/allele/PA2825972551", "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164280.1:c.413G>A" ], "proteinEffect": { "hgvs": "NP_001157752.1:p.Trp138Ter", "hgvsWellDefined": "NP_001157752.1:p.Trp138_Glu429delinsAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014490" }, { "@id": "http://reg.genome.network/allele/PA2829335059", "coordinates": [ { "allele": "A", "end": 666, "referenceAllele": "G", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001467.5:c.413G>A" ], "proteinEffect": { "hgvs": "NP_001458.1:p.Trp138Ter", "hgvsWellDefined": "NP_001458.1:p.Trp138_Glu429delinsAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026849" }, { "@id": "http://reg.genome.network/allele/PA2825971642", "coordinates": [ { "allele": "A", "end": 825, "referenceAllele": "G", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164278.2:c.413G>A" ], "proteinEffect": { "hgvs": "NP_001157750.1:p.Trp138Ter", "hgvsWellDefined": "NP_001157750.1:p.Trp138_Glu451delinsAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysAspValAlaPheTrpThrLeuAlaLeuHisProLeuAlaGluLeuThrGlyPheThrGluHisGluLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663840" }, { "@id": "http://reg.genome.network/allele/PA2741839079", "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "G", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164279.2:c.194G>A" ], "proteinEffect": { "hgvs": "NP_001157751.1:p.Trp65Ter", "hgvsWellDefined": "NP_001157751.1:p.Trp65_Glu356delinsAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663841" }, { "@id": "http://reg.genome.network/allele/PA2825972551", "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "G", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164280.2:c.413G>A" ], "proteinEffect": { "hgvs": "NP_001157752.1:p.Trp138Ter", "hgvsWellDefined": "NP_001157752.1:p.Trp138_Glu429delinsAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663842" }, { "@id": "http://reg.genome.network/allele/PA2829335059", "coordinates": [ { "allele": "A", "end": 637, "referenceAllele": "G", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001467.6:c.413G>A" ], "proteinEffect": { "hgvs": "NP_001458.1:p.Trp138Ter", "hgvsWellDefined": "NP_001458.1:p.Trp138_Glu429delinsAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665005" }, { "@id": "http://reg.genome.network/allele/PA2825971188", "coordinates": [ { "allele": "A", "end": 1141, "referenceAllele": "G", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN004061", "geneNCBI_id": 2542, "geneSymbol": "SLC37A4", "hgvs": [ "NM_001164277.2:c.413G>A" ], "proteinEffect": { "hgvs": "NP_001157749.1:p.Trp138Ter", "hgvsWellDefined": "NP_001157749.1:p.Trp138_Glu429delinsAlaIleLeuSerThrSerMetAsnLeuAlaGlyGlyLeuGlyProIleLeuAlaThrIleLeuAlaGlnSerTyrSerTrpArgSerThrLeuAlaLeuSerGlyAlaLeuCysValValValSerPheLeuCysLeuLeuLeuIleHisAsnGluProAlaAspValGlyLeuArgAsnLeuAspProMetProSerGluGlyLysLysGlySerLeuLysGluGluSerThrLeuGlnGluLeuLeuLeuSerProTyrLeuTrpValLeuSerThrGlyTyrLeuValValPheGlyValLysThrCysCysThrAspTrpGlyGlnPhePheLeuIleGlnGluLysGlyGlnSerAlaLeuValGlySerSerTyrMetSerAlaLeuGluValGlyGlyLeuValGlySerIleAlaAlaGlyTyrLeuSerAspArgAlaMetAlaLysAlaGlyLeuSerAsnTyrGlyAsnProArgHisGlyLeuLeuLeuPheMetMetAlaGlyMetThrValSerMetTyrLeuPheArgValThrValThrSerAspSerProLysLeuTrpIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713070", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642844.3:c.413G>A" }, "RefSeq": { "hgvs": "NM_001164277.2:c.413G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493469.1:p.Trp138Ter" }, "RefSeq": { "hgvs": "NP_001157749.1:p.Trp138Ter" } } } } ], "type": "nucleotide" }