{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10607036", "communityStandardTitle": [ "NM_144672.4(OTOA):c.2148C>A (p.Cys716Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275378[alleleid]", "alleleId": 275378, "preferredName": "NM_144672.4(OTOA):c.2148C>A (p.Cys716Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291141", "RCV": [ "RCV000303562" ], "variationId": 291141 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.21739693C>A?assembly=hg19", "id": "chr16:g.21739693C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.21728372C>A?assembly=hg38", "id": "chr16:g.21728372C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886044667", "rs": 886044667 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-21739693-C-A?dataset=gnomad_r2_1", "id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752768" }, { "coordinates": [ { "allele": "A", "end": 2417, "referenceAllele": "C", "start": 2416 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "ENST00000646100.2:c.2148C>A" ], "proteinEffect": { "hgvs": "ENSP00000496564.2:p.Cys716Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS768695", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646100.2:c.2148C>A" }, "RefSeq": { "hgvs": "NM_144672.4:c.2148C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496564.2:p.Cys716Ter" }, "RefSeq": { "hgvs": "NP_653273.3:p.Cys716Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2053, "referenceAllele": "C", "start": 2052 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "ENST00000647277.1:c.*962C>A" ], "proteinEffect": { "hgvs": "ENSP00000495594.1:n.*962C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769327" }, { "coordinates": [ { "allele": "A", "end": 2191, "referenceAllele": "C", "start": 2190 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "ENST00000286149.8:c.2190C>A" ], "proteinEffect": { "hgvs": "ENSP00000286149.4:p.Cys730Ter", "hgvsWellDefined": "ENSP00000286149.4:p.Cys730_Trp1153delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253342" }, { "coordinates": [ { "allele": "A", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "ENST00000388956.8:c.1911C>A" ], "proteinEffect": { "hgvs": "ENSP00000373608.4:p.Cys637Ter", "hgvsWellDefined": "ENSP00000373608.4:p.Cys637_Trp1060delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274112" }, { "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "ENST00000388957.3:c.1176C>A" ], "proteinEffect": { "hgvs": "ENSP00000373609.3:p.Cys392Ter", "hgvsWellDefined": "ENSP00000373609.3:p.Cys392_Trp815delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274113" }, { "coordinates": [ { "allele": "A", "end": 2149, "referenceAllele": "C", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "ENST00000388958.7:c.2148C>A" ], "proteinEffect": { "hgvs": "ENSP00000373610.3:p.Cys716Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS274114" }, { "coordinates": [ { "allele": "A", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "ENST00000563871.5:n.1611C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS377702" }, { "@id": "http://reg.genome.network/allele/PA2825915076", "coordinates": [ { "allele": "A", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "NM_001161683.1:c.1911C>A" ], "proteinEffect": { "hgvs": "NP_001155155.1:p.Cys637Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS014290" }, { "@id": "http://reg.genome.network/allele/PA645502676", "coordinates": [ { "allele": "A", "end": 2149, "referenceAllele": "C", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "NM_144672.3:c.2148C>A" ], "proteinEffect": { "hgvs": "NP_653273.3:p.Cys716Ter", "hgvsWellDefined": "NP_653273.3:p.Cys716_Trp1139delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041191" }, { "@id": "http://reg.genome.network/allele/PA2830322082", "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "NM_170664.2:c.1176C>A" ], "proteinEffect": { "hgvs": "NP_733764.1:p.Cys392Ter", "hgvsWellDefined": "NP_733764.1:p.Cys392_Trp815delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS042541" }, { "coordinates": [ { "allele": "A", "end": 2230, "referenceAllele": "C", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "XM_011545747.1:c.2148C>A" ], "proteinEffect": { "hgvs": "XP_011544049.1:p.Cys716Ter", "hgvsWellDefined": "XP_011544049.1:p.Cys716_Trp1139delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112631" }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "C", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "XM_011545748.1:c.1017C>A" ], "proteinEffect": { "hgvs": "XP_011544050.1:p.Cys339Ter", "hgvsWellDefined": "XP_011544050.1:p.Cys339_Trp762delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS112632" }, { "@id": "http://reg.genome.network/allele/PA645502676", "coordinates": [ { "allele": "A", "end": 2417, "referenceAllele": "C", "start": 2416 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "NM_144672.4:c.2148C>A" ], "proteinEffect": { "hgvs": "NP_653273.3:p.Cys716Ter", "hgvsWellDefined": "NP_653273.3:p.Cys716_Trp1139delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526568", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646100.2:c.2148C>A" }, "RefSeq": { "hgvs": "NM_144672.4:c.2148C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496564.2:p.Cys716Ter" }, "RefSeq": { "hgvs": "NP_653273.3:p.Cys716Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1522, "referenceAllele": "C", "start": 1521 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "XM_011545748.2:c.1017C>A" ], "proteinEffect": { "hgvs": "XP_011544050.2:p.Cys339Ter", "hgvsWellDefined": "XP_011544050.2:p.Cys339_Phe798delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpCysLeuProPheProTrpAspSerAlaGluTrpMetAlaValLysLeuSerLeuAsnSerGlnAsnIleProCysPheTrpTrpArgTrpTrpTrpLeuPheTrpPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556222" }, { "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "XM_017022951.1:c.414C>A" ], "proteinEffect": { "hgvs": "XP_016878440.1:p.Cys138Ter", "hgvsWellDefined": "XP_016878440.1:p.Cys138_Phe597delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpCysLeuProPheProTrpAspSerAlaGluTrpMetAlaValLysLeuSerLeuAsnSerGlnAsnIleProCysPheTrpTrpArgTrpTrpTrpLeuPheTrpPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573790" }, { "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "XR_002957775.1:n.1243C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603904" }, { "@id": "http://reg.genome.network/allele/PA2825915076", "coordinates": [ { "allele": "A", "end": 2005, "referenceAllele": "C", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "NM_001161683.2:c.1911C>A" ], "proteinEffect": { "hgvs": "NP_001155155.1:p.Cys637Ter", "hgvsWellDefined": "NP_001155155.1:p.Cys637_Trp1060delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678205" }, { "@id": "http://reg.genome.network/allele/PA2830322082", "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN016378", "geneNCBI_id": 146183, "geneSymbol": "OTOA", "hgvs": [ "NM_170664.3:c.1176C>A" ], "proteinEffect": { "hgvs": "NP_733764.1:p.Cys392Ter", "hgvsWellDefined": "NP_733764.1:p.Cys392_Trp815delinsProAspLeuAsnProGluGlnLysAlaAlaValArgLeuLysLeuLeuGlyGlnTyrGlyLeuProGlnHisTrpThrAlaGluThrThrLysAspLeuGlyProPheLeuValLeuPheSerGlyAspGluLeuSerSerIleAlaThrLysPheProGluIleLeuLeuGlnAlaAlaSerLysMetAlaArgThrLeuProThrLysGluPheLeuTrpAlaValPheGlnSerValArgAsnSerSerAspLysIleProSerTyrAspProMetProGlyCysHisGlyValValAlaProSerSerAspAspIlePheLysLeuAlaGluAlaAsnAlaCysTrpAlaLeuGluAspLeuArgCysMetGluGluAspThrPheIleArgThrValGluLeuLeuGlyAlaValGlnGlyPheSerArgProGlnLeuMetThrLeuLysGluLysAlaIleGlnValTrpAspMetProSerTyrTrpArgGluHisHisIleValSerLeuGlyArgIleAlaLeuAlaLeuAsnGluSerGluLeuGluGlnLeuAspLeuSerSerIleAspThrValAlaSerLeuSerTrpGlnThrGluTrpThrProGlyGlnAlaGluSerIleLeuGlnGlyTyrLeuAspAspSerGlyTyrSerIleGlnAspLeuLysSerPheHisLeuValGlyLeuGlyAlaThrLeuCysAlaIleAsnIleThrGluIleProLeuIleLysIleSerGluPheArgValValValAlaArgIleGlyThrLeuLeuCysSerThrHisValLeuAlaGluPheLysArgLysAlaGluValValPheGlyAspProThrGluTrpThrSerSerValLeuGlnGluLeuGlyThrIleAlaAlaGlyLeuThrLysAlaGluLeuArgMetLeuAspLysAspLeuMetProTyrPheGlnProSerAlaIleLysCysLeuProAspGluIlePheLysGluLeuSerAlaGluGlnIleAlaSerLeuGlyProGluAsnAlaAlaAlaValThrHisAlaGlnArgArgArgLeuSerProLeuGlnLeuGlnSerLeuGlnGlnAlaLeuAspGlyAlaLysThrHisSerTrpGlnAspAlaProAlaSerAlaGlyProThrArgThrSerSerSerArgSerProAlaGlyAlaLeuGlnSerTrpGlyLeuTrpLeuGlyCysProLeuLeuValLeuMetAlaLysLeuLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700429" } ], "type": "nucleotide" }