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"http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.2:c.859G>T" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Glu287Ter", "hgvsWellDefined": "NP_001333644.1:p.Glu287_Pro464delinsMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687418" }, { "@id": "http://reg.genome.network/allele/PA2827382973", "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "G", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.2:c.751G>T" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Glu251Ter", "hgvsWellDefined": "NP_001333646.1:p.Glu251_Pro428delinsMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687419" }, { "@id": "http://reg.genome.network/allele/PA2827383313", "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "G", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.2:c.664G>T" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Glu222Ter", "hgvsWellDefined": "NP_001333648.1:p.Glu222_Pro408delinsMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687420" }, { "@id": "http://reg.genome.network/allele/PA2827383620", "coordinates": [ { "allele": "T", "end": 848, "referenceAllele": "G", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.2:c.478G>T" ], "proteinEffect": { "hgvs": "NP_001333649.1:p.Glu160Ter", "hgvsWellDefined": "NP_001333649.1:p.Glu160_Pro346delinsMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687421" }, { "@id": "http://reg.genome.network/allele/PA2828066240", "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "G", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.2:c.664G>T" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Glu222Ter", "hgvsWellDefined": "NP_001349736.1:p.Glu222_Pro399delinsMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690548" }, { "@id": "http://reg.genome.network/allele/PA2828066498", "coordinates": [ { "allele": "T", "end": 848, "referenceAllele": "G", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.2:c.478G>T" ], "proteinEffect": { "hgvs": "NP_001349737.1:p.Glu160Ter", "hgvsWellDefined": "NP_001349737.1:p.Glu160_Pro337delinsMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690549" }, { "@id": "http://reg.genome.network/allele/PA2828066833", "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.2:c.628G>T" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Glu210Ter", "hgvsWellDefined": "NP_001349738.1:p.Glu210_Pro387delinsMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690550" }, { "@id": "http://reg.genome.network/allele/PA2829454037", "coordinates": [ { "allele": "T", "end": 786, "referenceAllele": "G", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.751G>T" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Glu251Ter", "hgvsWellDefined": "NP_003910.1:p.Glu251_Pro437delinsMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.751G>T" }, "RefSeq": { "hgvs": "NM_003919.3:c.751G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Glu251Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Glu251Ter" } } } } ], "type": "nucleotide" }