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"XP_011532923.1:p.Arg96_Leu289delinsProGlyAsnAlaLeuTyrPheLysSerAlaArgAsnValThrValAsnIleLeuAsnAspGlnThrLysValLeuThrGlnLeuIleThrGlyProLysAlaValGluAlaTyrGlyLysLysPheGluValLysThrValSerGlyLysLeuLeuPheSerAlaAspAsnAsnGluValValValGlyAlaGluArgLeuArgValLeuGlyAlaGluGlyThrValPheProLysSerIleGluThrProAsnValArgAlaAspProPheLysGluLeuArgLeuGluSerProThrArgSerLeuValMetGluAlaProLysGlyValGluIleAsnAlaGluAlaGlyAsnMetGluAlaThrCysArgThrGluLeuArgLeuGluSerLysAspGlyGluIleLysLeuAspAlaAlaLysIleArgLeuProArgLeuProHisGlySerTyrThrProThrGlyThrArgGlnLysValPheGluIleCysValCysAlaAsnGlyArgLeuPheLeuSerGlnAlaGlyAlaGlySerThrCysGlnIleAsnThrSerValCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551692" }, { "coordinates": [ { "allele": "T", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN010807", "geneNCBI_id": 6444, "geneSymbol": "SGCD", "hgvs": [ "XM_017009723.2:c.289C>T" ], "proteinEffect": { "hgvs": "XP_016865212.1:p.Arg97Ter", "hgvsWellDefined": "XP_016865212.1:p.Arg97_Leu290delinsProGlyAsnAlaLeuTyrPheLysSerAlaArgAsnValThrValAsnIleLeuAsnAspGlnThrLysValLeuThrGlnLeuIleThrGlyProLysAlaValGluAlaTyrGlyLysLysPheGluValLysThrValSerGlyLysLeuLeuPheSerAlaAspAsnAsnGluValValValGlyAlaGluArgLeuArgValLeuGlyAlaGluGlyThrValPheProLysSerIleGluThrProAsnValArgAlaAspProPheLysGluLeuArgLeuGluSerProThrArgSerLeuValMetGluAlaProLysGlyValGluIleAsnAlaGluAlaGlyAsnMetGluAlaThrCysArgThrGluLeuArgLeuGluSerLysAspGlyGluIleLysLeuAspAlaAlaLysIleArgLeuProArgLeuProHisGlySerTyrThrProThrGlyThrArgGlnLysValPheGluIleCysValCysAlaAsnGlyArgLeuPheLeuSerGlnAlaGlyAlaGlySerThrCysGlnIleAsnThrSerValCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563953" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN010807", "geneNCBI_id": 6444, "geneSymbol": "SGCD", "hgvs": [ "XM_017009724.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_016865213.1:p.Arg97Ter", "hgvsWellDefined": "XP_016865213.1:p.Arg97_Leu290delinsProGlyAsnAlaLeuTyrPheLysSerAlaArgAsnValThrValAsnIleLeuAsnAspGlnThrLysValLeuThrGlnLeuIleThrGlyProLysAlaValGluAlaTyrGlyLysLysPheGluValLysThrValSerGlyLysLeuLeuPheSerAlaAspAsnAsnGluValValValGlyAlaGluArgLeuArgValLeuGlyAlaGluGlyThrValPheProLysSerIleGluThrProAsnValArgAlaAspProPheLysGluLeuArgLeuGluSerProThrArgSerLeuValMetGluAlaProLysGlyValGluIleAsnAlaGluAlaGlyAsnMetGluAlaThrCysArgThrGluLeuArgLeuGluSerLysAspGlyGluIleLysLeuAspAlaAlaLysIleArgLeuProArgLeuProHisGlySerTyrThrProThrGlyThrArgGlnLysValPheGluIleCysValCysAlaAsnGlyArgLeuPheLeuSerGlnAlaGlyAlaGlySerThrCysGlnIleAsnThrSerValCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS563954" }, { "@id": "http://reg.genome.network/allele/PA2825666860", "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN010807", "geneNCBI_id": 6444, "geneSymbol": "SGCD", "hgvs": [ "NM_001128209.2:c.286C>T" ], "proteinEffect": { "hgvs": "NP_001121681.1:p.Arg96Ter", "hgvsWellDefined": "NP_001121681.1:p.Arg96_Leu289delinsProGlyAsnAlaLeuTyrPheLysSerAlaArgAsnValThrValAsnIleLeuAsnAspGlnThrLysValLeuThrGlnLeuIleThrGlyProLysAlaValGluAlaTyrGlyLysLysPheGluValLysThrValSerGlyLysLeuLeuPheSerAlaAspAsnAsnGluValValValGlyAlaGluArgLeuArgValLeuGlyAlaGluGlyThrValPheProLysSerIleGluThrProAsnValArgAlaAspProPheLysGluLeuArgLeuGluSerProThrArgSerLeuValMetGluAlaProLysGlyValGluIleAsnAlaGluAlaGlyAsnMetGluAlaThrCysArgThrGluLeuArgLeuGluSerLysAspGlyGluIleLysLeuAspAlaAlaLysIleArgLeuProArgLeuProHisGlySerTyrThrProThrGlyThrArgGlnLysValPheGluIleCysValCysAlaAsnGlyArgLeuPheLeuSerGlnAlaGlyAlaGlySerThrCysGlnIleAsnThrSerValCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676973" }, { "@id": "http://reg.genome.network/allele/PA2573305625", "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN010807", "geneNCBI_id": 6444, "geneSymbol": "SGCD", "hgvs": [ "NM_172244.3:c.289C>T" ], "proteinEffect": { "hgvs": "NP_758447.1:p.Arg97Ter", "hgvsWellDefined": "NP_758447.1:p.Arg97_Gly256delinsProGlyAsnAlaLeuTyrPheLysSerAlaArgAsnValThrValAsnIleLeuAsnAspGlnThrLysValLeuThrGlnLeuIleThrGlyProLysAlaValGluAlaTyrGlyLysLysPheGluValLysThrValSerGlyLysLeuLeuPheSerAlaAspAsnAsnGluValValValGlyAlaGluArgLeuArgValLeuGlyAlaGluGlyThrValPheProLysSerIleGluThrProAsnValArgAlaAspProPheLysGluLeuArgLeuGluSerProThrArgSerLeuValMetGluAlaProLysGlyValGluIleAsnAlaGluAlaGlyAsnMetGluAlaThrCysArgThrGluLeuArgLeuGluSerLysAspGlyGluValArgAspGluLysAspArgSerSerLysSerTyrSerPheAsnArgProThrLeuProIleThrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700514" }, { "@id": "http://reg.genome.network/allele/PA2825133340", "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN010807", "geneNCBI_id": 6444, "geneSymbol": "SGCD", "hgvs": [ "NM_000337.6:c.289C>T" ], "proteinEffect": { "hgvs": "NP_000328.2:p.Arg97Ter", "hgvsWellDefined": "NP_000328.2:p.Arg97_Leu290delinsProGlyAsnAlaLeuTyrPheLysSerAlaArgAsnValThrValAsnIleLeuAsnAspGlnThrLysValLeuThrGlnLeuIleThrGlyProLysAlaValGluAlaTyrGlyLysLysPheGluValLysThrValSerGlyLysLeuLeuPheSerAlaAspAsnAsnGluValValValGlyAlaGluArgLeuArgValLeuGlyAlaGluGlyThrValPheProLysSerIleGluThrProAsnValArgAlaAspProPheLysGluLeuArgLeuGluSerProThrArgSerLeuValMetGluAlaProLysGlyValGluIleAsnAlaGluAlaGlyAsnMetGluAlaThrCysArgThrGluLeuArgLeuGluSerLysAspGlyGluIleLysLeuAspAlaAlaLysIleArgLeuProArgLeuProHisGlySerTyrThrProThrGlyThrArgGlnLysValPheGluIleCysValCysAlaAsnGlyArgLeuPheLeuSerGlnAlaGlyAlaGlySerThrCysGlnIleAsnThrSerValCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710827", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000337851.9:c.289C>T" }, "RefSeq": { "hgvs": "NM_000337.6:c.289C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000338343.4:p.Arg97Ter" }, "RefSeq": { "hgvs": "NP_000328.2:p.Arg97Ter" } } } } ], "type": "nucleotide" }