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}, "referenceSequence": "http://reg.genome.network/refseq/RS754006" }, { "coordinates": [ { "allele": "G", "end": 4618, "referenceAllele": "T", "start": 4617 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000272371.6:c.4491T>G" ], "proteinEffect": { "hgvs": "ENSP00000272371.2:p.Tyr1497Ter", "hgvsWellDefined": "ENSP00000272371.2:p.Tyr1497_Ala1997delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252367" }, { "coordinates": [ { "allele": "G", "end": 2416, "referenceAllele": "T", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000338581.10:c.2190T>G" ], "proteinEffect": { "hgvs": "ENSP00000345137.6:p.Tyr730Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS260687" }, { "coordinates": [ { "allele": "G", "end": 2416, "referenceAllele": "T", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000339598.7:c.2190T>G" ], "proteinEffect": { "hgvs": "ENSP00000344521.3:p.Tyr730Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS260908" }, { "coordinates": [ { "allele": "G", "end": 2570, "referenceAllele": "T", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000402415.7:c.2421T>G" ], "proteinEffect": { "hgvs": "ENSP00000383906.3:p.Tyr807Ter", "hgvsWellDefined": "ENSP00000383906.3:p.Tyr807_Ala1307delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279510" }, { "coordinates": [ { "allele": "G", "end": 4598, "referenceAllele": "T", "start": 4597 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000403946.7:c.4491T>G" ], "proteinEffect": { "hgvs": "ENSP00000385255.3:p.Tyr1497Ter", "hgvsWellDefined": "ENSP00000385255.3:p.Tyr1497_Ala1997delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279939" }, { "@id": "http://reg.genome.network/allele/PA2826697253", "coordinates": [ { "allele": "G", "end": 4618, "referenceAllele": "T", "start": 4617 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.1:c.4491T>G" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Tyr1497Ter", "hgvsWellDefined": "NP_001274418.1:p.Tyr1497_Ala1997delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023354" }, { "@id": "http://reg.genome.network/allele/PA2829570620", "coordinates": [ { "allele": "G", "end": 2416, "referenceAllele": "T", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.3:c.2190T>G" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Tyr730Ter", "hgvsWellDefined": "NP_004793.2:p.Tyr730_Ala1230delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029949" }, { "@id": "http://reg.genome.network/allele/PA340523", "coordinates": [ { "allele": "G", "end": 4618, "referenceAllele": "T", "start": 4617 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.2:c.4491T>G" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Tyr1497Ter", "hgvsWellDefined": "NP_919224.1:p.Tyr1497_Ala1997delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044301" }, { "@id": "http://reg.genome.network/allele/PA916054268", "coordinates": [ { "allele": "G", "end": 2570, "referenceAllele": "T", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.2:c.2421T>G" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Tyr807Ter", "hgvsWellDefined": "NP_919303.1:p.Tyr807_Ala1307delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044339" }, { "@id": "http://reg.genome.network/allele/PA2830424753", "coordinates": [ { "allele": "G", "end": 2416, "referenceAllele": "T", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.2:c.2190T>G" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Tyr730Ter", "hgvsWellDefined": "NP_919304.1:p.Tyr730_Ala1230delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044340" }, { "coordinates": [ { "allele": "G", "end": 4476, "referenceAllele": "T", "start": 4475 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_005264644.2:c.4476T>G" ], "proteinEffect": { "hgvs": "XP_005264701.1:p.Tyr1492Ter", "hgvsWellDefined": "XP_005264701.1:p.Tyr1492_Ala1992delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064327" }, { "coordinates": [ { "allele": "G", "end": 4536, "referenceAllele": "T", "start": 4535 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_011533185.1:c.4536T>G" ], "proteinEffect": { "hgvs": "XP_011531487.1:p.Tyr1512Ter", "hgvsWellDefined": "XP_011531487.1:p.Tyr1512_Ala2012delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100210" }, { "coordinates": [ { "allele": "G", "end": 4431, "referenceAllele": "T", "start": 4430 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_017005338.1:c.4431T>G" ], "proteinEffect": { "hgvs": "XP_016860827.1:p.Tyr1477Ter", "hgvsWellDefined": "XP_016860827.1:p.Tyr1477_Ala1977delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560624" }, { "@id": "http://reg.genome.network/allele/PA2826697253", "coordinates": [ { "allele": "G", "end": 4676, "referenceAllele": "T", "start": 4675 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.2:c.4491T>G" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Tyr1497Ter", "hgvsWellDefined": "NP_001274418.1:p.Tyr1497_Ala1997delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682405" }, { "@id": "http://reg.genome.network/allele/PA2829570620", "coordinates": [ { "allele": "G", "end": 2498, "referenceAllele": "T", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.4:c.2190T>G" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Tyr730Ter", "hgvsWellDefined": "NP_004793.2:p.Tyr730_Ala1230delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696245" }, { "@id": "http://reg.genome.network/allele/PA340523", "coordinates": [ { "allele": "G", "end": 4676, "referenceAllele": "T", "start": 4675 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.3:c.4491T>G" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Tyr1497Ter", "hgvsWellDefined": "NP_919224.1:p.Tyr1497_Ala1997delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272371.7:c.4491T>G" }, "RefSeq": { "hgvs": "NM_194248.3:c.4491T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272371.2:p.Tyr1497Ter" }, "RefSeq": { "hgvs": "NP_919224.1:p.Tyr1497Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916054268", "coordinates": [ { "allele": "G", "end": 2652, "referenceAllele": "T", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.3:c.2421T>G" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Tyr807Ter", "hgvsWellDefined": "NP_919303.1:p.Tyr807_Ala1307delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701212" }, { "@id": "http://reg.genome.network/allele/PA2830424753", "coordinates": [ { "allele": "G", "end": 2498, "referenceAllele": "T", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.3:c.2190T>G" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Tyr730Ter", "hgvsWellDefined": "NP_919304.1:p.Tyr730_Ala1230delinsValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339598.8:c.2190T>G" }, "RefSeq": { "hgvs": "NM_194323.3:c.2190T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344521.3:p.Tyr730Ter" }, "RefSeq": { "hgvs": "NP_919304.1:p.Tyr730Ter" } } } } ], "type": "nucleotide" }