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}, "referenceSequence": "http://reg.genome.network/refseq/RS252367" }, { "coordinates": [ { "allele": "T", "end": 2408, "referenceAllele": "C", "start": 2407 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000338581.10:c.2182C>T" ], "proteinEffect": { "hgvs": "ENSP00000345137.6:p.Arg728Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS260687" }, { "coordinates": [ { "allele": "T", "end": 2408, "referenceAllele": "C", "start": 2407 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000339598.7:c.2182C>T" ], "proteinEffect": { "hgvs": "ENSP00000344521.3:p.Arg728Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS279510" }, { "coordinates": [ { "allele": "T", "end": 4590, "referenceAllele": "C", "start": 4589 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000403946.7:c.4483C>T" ], "proteinEffect": { "hgvs": "ENSP00000385255.3:p.Arg1495Ter", "hgvsWellDefined": "ENSP00000385255.3:p.Arg1495_Ala1997delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279939" }, { "@id": "http://reg.genome.network/allele/PA2826697244", "coordinates": [ { "allele": "T", "end": 4610, "referenceAllele": "C", "start": 4609 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.1:c.4483C>T" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Arg1495Ter", "hgvsWellDefined": "NP_001274418.1:p.Arg1495_Ala1997delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023354" }, { "@id": "http://reg.genome.network/allele/PA2829570613", "coordinates": [ { "allele": "T", "end": 2408, "referenceAllele": "C", "start": 2407 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.3:c.2182C>T" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Arg728Ter", "hgvsWellDefined": "NP_004793.2:p.Arg728_Ala1230delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029949" }, { "@id": "http://reg.genome.network/allele/PA345126", "coordinates": [ { "allele": "T", "end": 4610, "referenceAllele": "C", "start": 4609 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.2:c.4483C>T" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Arg1495Ter", "hgvsWellDefined": "NP_919224.1:p.Arg1495_Ala1997delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044301" }, { "@id": "http://reg.genome.network/allele/PA916054265", "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "C", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.2:c.2413C>T" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Arg805Ter", "hgvsWellDefined": "NP_919303.1:p.Arg805_Ala1307delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044339" }, { "@id": "http://reg.genome.network/allele/PA2830424752", "coordinates": [ { "allele": "T", "end": 2408, "referenceAllele": "C", "start": 2407 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.2:c.2182C>T" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Arg728Ter", "hgvsWellDefined": "NP_919304.1:p.Arg728_Ala1230delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044340" }, { "coordinates": [ { "allele": "T", "end": 4468, "referenceAllele": "C", "start": 4467 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_005264644.2:c.4468C>T" ], "proteinEffect": { "hgvs": "XP_005264701.1:p.Arg1490Ter", "hgvsWellDefined": "XP_005264701.1:p.Arg1490_Ala1992delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064327" }, { "coordinates": [ { "allele": "T", "end": 4528, "referenceAllele": "C", "start": 4527 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_011533185.1:c.4528C>T" ], "proteinEffect": { "hgvs": "XP_011531487.1:p.Arg1510Ter", "hgvsWellDefined": "XP_011531487.1:p.Arg1510_Ala2012delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100210" }, { "coordinates": [ { "allele": "T", "end": 4423, "referenceAllele": "C", "start": 4422 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_017005338.1:c.4423C>T" ], "proteinEffect": { "hgvs": "XP_016860827.1:p.Arg1475Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS560624" }, { "@id": "http://reg.genome.network/allele/PA2826697244", "coordinates": [ { "allele": "T", "end": 4668, "referenceAllele": "C", "start": 4667 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.2:c.4483C>T" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Arg1495Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS682405" }, { "@id": "http://reg.genome.network/allele/PA2829570613", "coordinates": [ { "allele": "T", "end": 2490, "referenceAllele": "C", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.4:c.2182C>T" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Arg728Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS696245" }, { "@id": "http://reg.genome.network/allele/PA345126", "coordinates": [ { "allele": "T", "end": 4668, "referenceAllele": "C", "start": 4667 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.3:c.4483C>T" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Arg1495Ter", "hgvsWellDefined": "NP_919224.1:p.Arg1495_Ala1997delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272371.7:c.4483C>T" }, "RefSeq": { "hgvs": "NM_194248.3:c.4483C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272371.2:p.Arg1495Ter" }, "RefSeq": { "hgvs": "NP_919224.1:p.Arg1495Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916054265", "coordinates": [ { "allele": "T", "end": 2644, "referenceAllele": "C", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.3:c.2413C>T" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Arg805Ter", "hgvsWellDefined": "NP_919303.1:p.Arg805_Ala1307delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701212" }, { "@id": "http://reg.genome.network/allele/PA2830424752", "coordinates": [ { "allele": "T", "end": 2490, "referenceAllele": "C", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.3:c.2182C>T" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Arg728Ter", "hgvsWellDefined": "NP_919304.1:p.Arg728_Ala1230delinsValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339598.8:c.2182C>T" }, "RefSeq": { "hgvs": "NM_194323.3:c.2182C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344521.3:p.Arg728Ter" }, "RefSeq": { "hgvs": "NP_919304.1:p.Arg728Ter" } } } } ], "type": "nucleotide" }