{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA342570", "communityStandardTitle": [ "NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34701[alleleid]", "alleleId": 34701, "preferredName": "NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21849", "RCV": [ "RCV000021061", "RCV003556064" ], "variationId": 21849 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.26690054C>T?assembly=hg19", "id": "chr2:g.26690054C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.26467186C>T?assembly=hg38", "id": "chr2:g.26467186C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80356598", "rs": 80356598 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-26690054-C-T?dataset=gnomad_r2_1", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS747833", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339598.8:c.1974G>A" }, "RefSeq": { "hgvs": "NM_194323.3:c.1974G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344521.3:p.Trp658Ter" }, "RefSeq": { "hgvs": "NP_919304.1:p.Trp658Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2354, "referenceAllele": "G", "start": 2353 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000402415.8:c.2034G>A" ], "proteinEffect": { "hgvs": "ENSP00000383906.4:p.Trp678Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754006" }, { "coordinates": [ { "allele": "A", "end": 4402, "referenceAllele": "G", "start": 4401 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000272371.6:c.4275G>A" ], "proteinEffect": { "hgvs": "ENSP00000272371.2:p.Trp1425Ter", "hgvsWellDefined": "ENSP00000272371.2:p.Trp1425_Ala1997delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252367" }, { "coordinates": [ { "allele": "A", "end": 2200, "referenceAllele": "G", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000338581.10:c.1974G>A" ], "proteinEffect": { "hgvs": "ENSP00000345137.6:p.Trp658Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS260687" }, { "coordinates": [ { "allele": "A", "end": 2200, "referenceAllele": "G", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000339598.7:c.1974G>A" ], "proteinEffect": { "hgvs": "ENSP00000344521.3:p.Trp658Ter", "hgvsWellDefined": "ENSP00000344521.3:p.Trp658_Ala1230delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260908" }, { "coordinates": [ { "allele": "A", "end": 2354, "referenceAllele": "G", "start": 2353 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000402415.7:c.2205G>A" ], "proteinEffect": { "hgvs": "ENSP00000383906.3:p.Trp735Ter", "hgvsWellDefined": "ENSP00000383906.3:p.Trp735_Ala1307delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279510" }, { "coordinates": [ { "allele": "A", "end": 4382, "referenceAllele": "G", "start": 4381 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "ENST00000403946.7:c.4275G>A" ], "proteinEffect": { "hgvs": "ENSP00000385255.3:p.Trp1425Ter", "hgvsWellDefined": "ENSP00000385255.3:p.Trp1425_Ala1997delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279939" }, { "@id": "http://reg.genome.network/allele/PA2826697148", "coordinates": [ { "allele": "A", "end": 4402, "referenceAllele": "G", "start": 4401 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.1:c.4275G>A" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Trp1425Ter", "hgvsWellDefined": "NP_001274418.1:p.Trp1425_Ala1997delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023354" }, { "@id": "http://reg.genome.network/allele/PA2829570508", "coordinates": [ { "allele": "A", "end": 2200, "referenceAllele": "G", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.3:c.1974G>A" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Trp658Ter", "hgvsWellDefined": "NP_004793.2:p.Trp658_Ala1230delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029949" }, { "@id": "http://reg.genome.network/allele/PA342571", "coordinates": [ { "allele": "A", "end": 4402, "referenceAllele": "G", "start": 4401 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.2:c.4275G>A" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Trp1425Ter", "hgvsWellDefined": "NP_919224.1:p.Trp1425_Ala1997delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044301" }, { "@id": "http://reg.genome.network/allele/PA916054248", "coordinates": [ { "allele": "A", "end": 2354, "referenceAllele": "G", "start": 2353 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.2:c.2205G>A" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Trp735Ter", "hgvsWellDefined": "NP_919303.1:p.Trp735_Ala1307delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044339" }, { "@id": "http://reg.genome.network/allele/PA2830424707", "coordinates": [ { "allele": "A", "end": 2200, "referenceAllele": "G", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.2:c.1974G>A" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Trp658Ter", "hgvsWellDefined": "NP_919304.1:p.Trp658_Ala1230delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044340" }, { "coordinates": [ { "allele": "A", "end": 4260, "referenceAllele": "G", "start": 4259 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_005264644.2:c.4260G>A" ], "proteinEffect": { "hgvs": "XP_005264701.1:p.Trp1420Ter", "hgvsWellDefined": "XP_005264701.1:p.Trp1420_Ala1992delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064327" }, { "coordinates": [ { "allele": "A", "end": 4320, "referenceAllele": "G", "start": 4319 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_011533185.1:c.4320G>A" ], "proteinEffect": { "hgvs": "XP_011531487.1:p.Trp1440Ter", "hgvsWellDefined": "XP_011531487.1:p.Trp1440_Ala2012delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100210" }, { "coordinates": [ { "allele": "A", "end": 4215, "referenceAllele": "G", "start": 4214 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "XM_017005338.1:c.4215G>A" ], "proteinEffect": { "hgvs": "XP_016860827.1:p.Trp1405Ter", "hgvsWellDefined": "XP_016860827.1:p.Trp1405_Ala1977delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560624" }, { "@id": "http://reg.genome.network/allele/PA2826697148", "coordinates": [ { "allele": "A", "end": 4460, "referenceAllele": "G", "start": 4459 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_001287489.2:c.4275G>A" ], "proteinEffect": { "hgvs": "NP_001274418.1:p.Trp1425Ter", "hgvsWellDefined": "NP_001274418.1:p.Trp1425_Ala1997delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682405" }, { "@id": "http://reg.genome.network/allele/PA2829570508", "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "G", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_004802.4:c.1974G>A" ], "proteinEffect": { "hgvs": "NP_004793.2:p.Trp658Ter", "hgvsWellDefined": "NP_004793.2:p.Trp658_Ala1230delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696245" }, { "@id": "http://reg.genome.network/allele/PA342571", "coordinates": [ { "allele": "A", "end": 4460, "referenceAllele": "G", "start": 4459 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194248.3:c.4275G>A" ], "proteinEffect": { "hgvs": "NP_919224.1:p.Trp1425Ter", "hgvsWellDefined": "NP_919224.1:p.Trp1425_Ala1997delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272371.7:c.4275G>A" }, "RefSeq": { "hgvs": "NM_194248.3:c.4275G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272371.2:p.Trp1425Ter" }, "RefSeq": { "hgvs": "NP_919224.1:p.Trp1425Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916054248", "coordinates": [ { "allele": "A", "end": 2436, "referenceAllele": "G", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194322.3:c.2205G>A" ], "proteinEffect": { "hgvs": "NP_919303.1:p.Trp735Ter", "hgvsWellDefined": "NP_919303.1:p.Trp735_Ala1307delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701212" }, { "@id": "http://reg.genome.network/allele/PA2830424707", "coordinates": [ { "allele": "A", "end": 2282, "referenceAllele": "G", "start": 2281 } ], "gene": "http://reg.genome.network/gene/GN008515", "geneNCBI_id": 9381, "geneSymbol": "OTOF", "hgvs": [ "NM_194323.3:c.1974G>A" ], "proteinEffect": { "hgvs": "NP_919304.1:p.Trp658Ter", "hgvsWellDefined": "NP_919304.1:p.Trp658_Ala1230delinsLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701213", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000339598.8:c.1974G>A" }, "RefSeq": { "hgvs": "NM_194323.3:c.1974G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344521.3:p.Trp658Ter" }, "RefSeq": { "hgvs": "NP_919304.1:p.Trp658Ter" } } } } ], "type": "nucleotide" }