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"hgvs": [ "XM_024447083.1:c.265C>T" ], "proteinEffect": { "hgvs": "XP_024302851.1:p.Arg89Ter", "hgvsWellDefined": "XP_024302851.1:p.Arg89_Asp320delinsAlaGluIleLeuGlyAlaLeuLeuSerIleLeuCysIleTrpValValThrGlyValLeuValTyrLeuAlaCysGluArgLeuLeuTyrProAspTyrGlnIleGlnAlaThrValMetIleIleValSerSerCysAlaValAlaAlaAsnIleValLeuThrValValLeuHisGlnArgCysLeuGlyHisAsnHisLysGluValGlnAlaAsnAlaSerValArgAlaAlaPheValHisAlaLeuGlyAspLeuPheGlnSerIleSerValLeuIleSerAlaLeuIleIleTyrPheLysProGluTyrLysIleAlaAspProIleCysThrPheIlePheSerIleLeuValLeuAlaSerThrIleThrIleLeuLysAspPheSerIleLeuLeuMetGluGlyValProLysSerLeuAsnTyrSerGlyValLysGluLeuIleLeuAlaValAspGlyValLeuSerValHisSerLeuHisIleTrpSerLeuThrMetAsnGlnValIleLeuSerAlaHisValAlaThrAlaAlaSerArgAspSerGlnValValArgArgGluIleAlaLysAlaLeuSerLysSerPheThrMetHisSerLeuThrIleGlnMetGluSerProValAspGlnAspProAspCysLeuPheCysGluAspProCysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580693" }, { "coordinates": [ { "allele": "A", "end": 973, "endIntronDirection": "+", "endIntronOffset": 19531, "referenceAllele": "G", "start": 973, "startIntronDirection": "+", "startIntronOffset": 19530 } ], "hgvs": [ "XR_928569.2:n.973+19531G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608930" }, { "coordinates": [ { "allele": "A", "end": 973, "endIntronDirection": "+", "endIntronOffset": 19531, "referenceAllele": "G", "start": 973, "startIntronDirection": "+", "startIntronOffset": 19530 } ], "hgvs": [ "XR_928570.2:n.973+19531G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608931" }, { "@id": "http://reg.genome.network/allele/PA2826082514", "coordinates": [ { "allele": "T", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN020303", "geneNCBI_id": 169026, "geneSymbol": "SLC30A8", "hgvs": [ "NM_001172811.2:c.265C>T" ], "proteinEffect": { "hgvs": "NP_001166282.1:p.Arg89Ter", "hgvsWellDefined": "NP_001166282.1:p.Arg89_Asp320delinsAlaGluIleLeuGlyAlaLeuLeuSerIleLeuCysIleTrpValValThrGlyValLeuValTyrLeuAlaCysGluArgLeuLeuTyrProAspTyrGlnIleGlnAlaThrValMetIleIleValSerSerCysAlaValAlaAlaAsnIleValLeuThrValValLeuHisGlnArgCysLeuGlyHisAsnHisLysGluValGlnAlaAsnAlaSerValArgAlaAlaPheValHisAlaLeuGlyAspLeuPheGlnSerIleSerValLeuIleSerAlaLeuIleIleTyrPheLysProGluTyrLysIleAlaAspProIleCysThrPheIlePheSerIleLeuValLeuAlaSerThrIleThrIleLeuLysAspPheSerIleLeuLeuMetGluGlyValProLysSerLeuAsnTyrSerGlyValLysGluLeuIleLeuAlaValAspGlyValLeuSerValHisSerLeuHisIleTrpSerLeuThrMetAsnGlnValIleLeuSerAlaHisValAlaThrAlaAlaSerArgAspSerGlnValValArgArgGluIleAlaLysAlaLeuSerLysSerPheThrMetHisSerLeuThrIleGlnMetGluSerProValAspGlnAspProAspCysLeuPheCysGluAspProCysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678796" }, { "@id": "http://reg.genome.network/allele/PA165372", "coordinates": [ { "allele": "T", "end": 806, "referenceAllele": "C", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN020303", "geneNCBI_id": 169026, "geneSymbol": "SLC30A8", "hgvs": [ "NM_001172813.2:c.265C>T" ], "proteinEffect": { "hgvs": "NP_001166284.1:p.Arg89Ter", "hgvsWellDefined": "NP_001166284.1:p.Arg89_Asp320delinsAlaGluIleLeuGlyAlaLeuLeuSerIleLeuCysIleTrpValValThrGlyValLeuValTyrLeuAlaCysGluArgLeuLeuTyrProAspTyrGlnIleGlnAlaThrValMetIleIleValSerSerCysAlaValAlaAlaAsnIleValLeuThrValValLeuHisGlnArgCysLeuGlyHisAsnHisLysGluValGlnAlaAsnAlaSerValArgAlaAlaPheValHisAlaLeuGlyAspLeuPheGlnSerIleSerValLeuIleSerAlaLeuIleIleTyrPheLysProGluTyrLysIleAlaAspProIleCysThrPheIlePheSerIleLeuValLeuAlaSerThrIleThrIleLeuLysAspPheSerIleLeuLeuMetGluGlyValProLysSerLeuAsnTyrSerGlyValLysGluLeuIleLeuAlaValAspGlyValLeuSerValHisSerLeuHisIleTrpSerLeuThrMetAsnGlnValIleLeuSerAlaHisValAlaThrAlaAlaSerArgAspSerGlnValValArgArgGluIleAlaLysAlaLeuSerLysSerPheThrMetHisSerLeuThrIleGlnMetGluSerProValAspGlnAspProAspCysLeuPheCysGluAspProCysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678797" }, { "@id": "http://reg.genome.network/allele/PA2826082590", "coordinates": [ { "allele": "T", "end": 775, "referenceAllele": "C", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN020303", "geneNCBI_id": 169026, "geneSymbol": "SLC30A8", "hgvs": [ "NM_001172814.2:c.265C>T" ], "proteinEffect": { "hgvs": "NP_001166285.1:p.Arg89Ter", "hgvsWellDefined": "NP_001166285.1:p.Arg89_Asp320delinsAlaGluIleLeuGlyAlaLeuLeuSerIleLeuCysIleTrpValValThrGlyValLeuValTyrLeuAlaCysGluArgLeuLeuTyrProAspTyrGlnIleGlnAlaThrValMetIleIleValSerSerCysAlaValAlaAlaAsnIleValLeuThrValValLeuHisGlnArgCysLeuGlyHisAsnHisLysGluValGlnAlaAsnAlaSerValArgAlaAlaPheValHisAlaLeuGlyAspLeuPheGlnSerIleSerValLeuIleSerAlaLeuIleIleTyrPheLysProGluTyrLysIleAlaAspProIleCysThrPheIlePheSerIleLeuValLeuAlaSerThrIleThrIleLeuLysAspPheSerIleLeuLeuMetGluGlyValProLysSerLeuAsnTyrSerGlyValLysGluLeuIleLeuAlaValAspGlyValLeuSerValHisSerLeuHisIleTrpSerLeuThrMetAsnGlnValIleLeuSerAlaHisValAlaThrAlaAlaSerArgAspSerGlnValValArgArgGluIleAlaLysAlaLeuSerLysSerPheThrMetHisSerLeuThrIleGlnMetGluSerProValAspGlnAspProAspCysLeuPheCysGluAspProCysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678798" }, { "@id": "http://reg.genome.network/allele/PA165371", "coordinates": [ { "allele": "T", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN020303", "geneNCBI_id": 169026, "geneSymbol": "SLC30A8", "hgvs": [ "NM_173851.3:c.412C>T" ], "proteinEffect": { "hgvs": "NP_776250.2:p.Arg138Ter", "hgvsWellDefined": "NP_776250.2:p.Arg138_Asp369delinsAlaGluIleLeuGlyAlaLeuLeuSerIleLeuCysIleTrpValValThrGlyValLeuValTyrLeuAlaCysGluArgLeuLeuTyrProAspTyrGlnIleGlnAlaThrValMetIleIleValSerSerCysAlaValAlaAlaAsnIleValLeuThrValValLeuHisGlnArgCysLeuGlyHisAsnHisLysGluValGlnAlaAsnAlaSerValArgAlaAlaPheValHisAlaLeuGlyAspLeuPheGlnSerIleSerValLeuIleSerAlaLeuIleIleTyrPheLysProGluTyrLysIleAlaAspProIleCysThrPheIlePheSerIleLeuValLeuAlaSerThrIleThrIleLeuLysAspPheSerIleLeuLeuMetGluGlyValProLysSerLeuAsnTyrSerGlyValLysGluLeuIleLeuAlaValAspGlyValLeuSerValHisSerLeuHisIleTrpSerLeuThrMetAsnGlnValIleLeuSerAlaHisValAlaThrAlaAlaSerArgAspSerGlnValValArgArgGluIleAlaLysAlaLeuSerLysSerPheThrMetHisSerLeuThrIleGlnMetGluSerProValAspGlnAspProAspCysLeuPheCysGluAspProCysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700658", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456015.7:c.412C>T" }, "RefSeq": { "hgvs": "NM_173851.3:c.412C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415011.2:p.Arg138Ter" }, "RefSeq": { "hgvs": "NP_776250.2:p.Arg138Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915992829", "coordinates": [ { "allele": "T", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN020303", "geneNCBI_id": 169026, "geneSymbol": "SLC30A8", "hgvs": [ "NM_001172815.3:c.265C>T" ], "proteinEffect": { "hgvs": "NP_001166286.1:p.Arg89Ter", "hgvsWellDefined": "NP_001166286.1:p.Arg89_Asp320delinsAlaGluIleLeuGlyAlaLeuLeuSerIleLeuCysIleTrpValValThrGlyValLeuValTyrLeuAlaCysGluArgLeuLeuTyrProAspTyrGlnIleGlnAlaThrValMetIleIleValSerSerCysAlaValAlaAlaAsnIleValLeuThrValValLeuHisGlnArgCysLeuGlyHisAsnHisLysGluValGlnAlaAsnAlaSerValArgAlaAlaPheValHisAlaLeuGlyAspLeuPheGlnSerIleSerValLeuIleSerAlaLeuIleIleTyrPheLysProGluTyrLysIleAlaAspProIleCysThrPheIlePheSerIleLeuValLeuAlaSerThrIleThrIleLeuLysAspPheSerIleLeuLeuMetGluGlyValProLysSerLeuAsnTyrSerGlyValLysGluLeuIleLeuAlaValAspGlyValLeuSerValHisSerLeuHisIleTrpSerLeuThrMetAsnGlnValIleLeuSerAlaHisValAlaThrAlaAlaSerArgAspSerGlnValValArgArgGluIleAlaLysAlaLeuSerLysSerPheThrMetHisSerLeuThrIleGlnMetGluSerProValAspGlnAspProAspCysLeuPheCysGluAspProCysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713465" } ], "type": "nucleotide" }