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"XP_011529987.1:p.Tyr129_Asp418delinsHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098717" }, { "@id": "http://reg.genome.network/allele/PA312704", "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "NM_172250.3:c.387C>A" ], "proteinEffect": { "hgvs": "NP_758454.1:p.Tyr129Ter", "hgvsWellDefined": "NP_758454.1:p.Tyr129_Asp418delinsHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526733", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649156.2:c.387C>A" }, "RefSeq": { "hgvs": "NM_172250.3:c.387C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497008.1:p.Tyr129Ter" }, "RefSeq": { "hgvs": "NP_758454.1:p.Tyr129Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531684.3:c.387C>A" ], "proteinEffect": { "hgvs": "XP_011529986.1:p.Tyr129Ter", "hgvsWellDefined": "XP_011529986.1:p.Tyr129_Asp418delinsHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550496" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531685.2:c.387C>A" ], "proteinEffect": { "hgvs": "XP_011529987.1:p.Tyr129Ter", "hgvsWellDefined": "XP_011529987.1:p.Tyr129_Asp418delinsHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550497" }, { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "C", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "XM_011531686.2:c.-397C>A" ], "proteinEffect": { "hgvs": "XP_011529988.1:n.-397C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS550498" }, { "@id": "http://reg.genome.network/allele/PA2828624145", "coordinates": [ { "allele": "A", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN018871", "geneNCBI_id": 166785, "geneSymbol": "MMAA", "hgvs": [ "NM_001375644.1:c.387C>A" ], "proteinEffect": { "hgvs": "NP_001362573.1:p.Tyr129Ter", "hgvsWellDefined": "NP_001362573.1:p.Tyr129_Asp418delinsHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693733" } ], "type": "nucleotide" }