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}, "referenceSequence": "http://reg.genome.network/refseq/RS742627", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264158.13:c.1734G>A" }, "RefSeq": { "hgvs": "NM_012233.3:c.1734G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264158.8:p.Trp578Ter" }, "RefSeq": { "hgvs": "NP_036365.1:p.Trp578Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000264158.12:c.1734G>A" ], "proteinEffect": { "hgvs": "ENSP00000264158.7:p.Trp578Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS251429" }, { "coordinates": [ { "allele": "A", "end": 1744, "referenceAllele": "G", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000442034.5:c.1734G>A" ], "proteinEffect": { "hgvs": "ENSP00000411418.1:p.Trp578Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS296694" }, { "coordinates": [ { "allele": "A", "end": 1803, "referenceAllele": "G", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000487003.5:n.1803G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325672" }, { "coordinates": [ { "allele": "A", "end": 1602, "referenceAllele": "G", "start": 1601 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000539493.2:c.1602G>A" ], "proteinEffect": { "hgvs": "ENSP00000444306.1:p.Trp534Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS361888" }, { "@id": "http://reg.genome.network/allele/PA118604", "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.1:c.1734G>A" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Trp578Ter", "hgvsWellDefined": "NP_001165906.1:p.Trp578_Phe988delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015463" }, { "@id": "http://reg.genome.network/allele/PA916004524", "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.2:c.1734G>A" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Trp578Ter", "hgvsWellDefined": "NP_036365.1:p.Trp578_Phe981delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032418" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510822.1:c.1734G>A" ], "proteinEffect": { "hgvs": "XP_011509124.1:p.Trp578Ter", "hgvsWellDefined": "XP_011509124.1:p.Trp578_Pro1031delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078083" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.1:c.1734G>A" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Trp578Ter", "hgvsWellDefined": "XP_011509125.1:p.Trp578_Pro1024delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078084" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510824.1:c.1734G>A" ], "proteinEffect": { "hgvs": "XP_011509126.1:p.Trp578Ter", "hgvsWellDefined": "XP_011509126.1:p.Trp578_Val986delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078085" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.1:c.1734G>A" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Trp578Ter", "hgvsWellDefined": "XP_011509127.1:p.Trp578_Val979delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078086" }, { "coordinates": [ { "allele": "A", "end": 1761, "referenceAllele": "G", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.3:c.1734G>A" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Trp578Ter", "hgvsWellDefined": "XP_011509125.1:p.Trp578_Pro1024delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541905" }, { "coordinates": [ { "allele": "A", "end": 1761, "referenceAllele": "G", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.3:c.1734G>A" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Trp578Ter", "hgvsWellDefined": "XP_011509127.1:p.Trp578_Val979delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541906" }, { "coordinates": [ { "allele": "A", "end": 1761, "referenceAllele": "G", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XR_001738674.2:n.1761G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589149" }, { "@id": "http://reg.genome.network/allele/PA118604", "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.2:c.1734G>A" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Trp578Ter", "hgvsWellDefined": "NP_001165906.1:p.Trp578_Phe988delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678754" }, { "@id": "http://reg.genome.network/allele/PA916004524", "coordinates": [ { "allele": "A", "end": 1750, "referenceAllele": "G", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.3:c.1734G>A" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Trp578Ter", "hgvsWellDefined": "NP_036365.1:p.Trp578_Phe981delinsSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697025", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264158.13:c.1734G>A" }, "RefSeq": { "hgvs": "NM_012233.3:c.1734G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264158.8:p.Trp578Ter" }, "RefSeq": { "hgvs": "NP_036365.1:p.Trp578Ter" } } } } ], "type": "nucleotide" }