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"XP_016865284.1:p.Gln252_Ser881delinsThrLysAlaGlyLysProGluGluAspSerGluSerSerSerGluGluSerSerAspSerGluGluGluThrProAlaAlaLysAlaLeuLeuGlnAlaLysAlaSerGlyLysThrSerGlnValGlyAlaAlaSerAlaProAlaLysGluSerProArgLysGlyAlaAlaProAlaProProGlyLysThrGlyProAlaValAlaLysAlaGlnAlaGlyLysArgGluGluAspSerGlnSerSerSerGluGluSerAspSerGluGluGluAlaProAlaGlnAlaLysProSerGlyLysAlaProGlnValArgAlaAlaSerAlaProAlaLysGluSerProArgLysGlyAlaAlaProAlaProProArgLysThrGlyProAlaAlaAlaGlnValGlnValGlyLysGlnGluGluAspSerArgSerSerSerGluGluSerAspSerAspArgGluAlaLeuAlaAlaMetAsnAlaAlaGlnValLysProLeuGlyLysSerProGlnValLysProAlaSerThrMetGlyMetGlyProLeuGlyLysGlyAlaGlyProValProProGlyLysValGlyProAlaThrProSerAlaGlnValGlyLysTrpGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" 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"referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_000356.4:c.754C>T" ], "proteinEffect": { "hgvs": "NP_000347.2:p.Gln252Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674805" }, { "@id": "http://reg.genome.network/allele/PA2825292932", "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "C", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001008657.3:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001008657.1:p.Gln329Ter", "hgvsWellDefined": "NP_001008657.1:p.Gln329_Ser958delinsThrLysAlaGlyLysProGluGluAspSerGluSerSerSerGluGluSerSerAspSerGluGluGluThrProAlaAlaLysAlaLeuLeuGlnAlaLysAlaSerGlyLysThrSerGlnValGlyAlaAlaSerAlaProAlaLysGluSerProArgLysGlyAlaAlaProAlaProProGlyLysThrGlyProAlaValAlaLysAlaGlnAlaGlyLysArgGluGluAspSerGlnSerSerSerGluGluSerAspSerGluGluGluAlaProAlaGlnAlaLysProSerGlyLysAlaProGlnValArgAlaAlaSerAlaProAlaLysGluSerProArgLysGlyAlaAlaProAlaProProArgLysThrGlyProAlaAlaAlaGlnValGlnValGlyLysGlnGluGluAspSerArgSerSerSerGluGluSerAspSerAspArgGluAlaLeuAlaAlaMetAsnAlaAlaGlnValLysProLeuGlyLysSerProGlnValLysProAlaSerThrMetGlyMetGlyProLeuGlyLysGlyAlaGlyProValProProGlyLysValGlyProAlaThrProSerAlaGlnValGlyLysTrpGluGluAspSerGluSerSerSerGluGluSerSerAspSerSerAspGlyGluValProThrAlaValAlaProAlaGlnGluLysSerLeuGlyAsnIleLeuGlnAlaLysProThrSerSerProAlaLysGlyProProGlnLysAlaGlyProValAlaValGlnValLysAlaGluLysProMetAspAsnSerGluSerSerGluGluSerSerAspSerAlaAspSerGluGluAlaProAlaAlaMetThrAlaAlaGlnAlaLysProAlaLeuLysIleProGlnThrLysAlaCysProLysLysThrAsnThrThrAlaSerAlaLysValAlaProValArgValGlyThrGlnAlaProArgLysAlaGlyThrAlaThrSerProAlaGlySerSerProAlaValAlaGlyGlyThrGlnArgProAlaGluAspSerSerSerSerGluGluSerAspSerGluGluGluLysThrGlyLeuAlaValThrValGlyGlnAlaLysSerValGlyLysGlyLeuGlnValLysAlaAlaSerValProValLysGlySerLeuGlyGlnGlyThrAlaProValLeuProGlyLysThrGlyProThrValThrGlnValLysAlaGluLysGlnGluAspSerGluSerSerGluGluGluSerAspSerGluGluAlaAlaAlaSerProAlaGlnValLysThrSerValLysLysThrGlnAlaLysAlaAsnProAlaAlaAlaArgAlaProSerAlaLysGlyThrIleSerAlaProGlyLysValValThrAlaAlaAlaGlnAlaLysGlnArgSerProSerLysValLysProProValArgAsnProGlnAsnSerThrValLeuAlaArgGlyProAlaSerValProSerValGlyLysAlaValAlaThrAlaAlaGlnAlaGlnThrGlyProGluGluAspSerGlySerSerGluGluGluSerAspSerGluGluGluAlaGluThrLeuAlaGlnValLysProSerGlyLysThrHisGlnIleArgAlaAlaLeuAlaProAlaLysGluSerProArgLysGlyAlaAlaProThrProProGlyLysThrGlyProSerAlaAlaGlnAlaGlyLysGlnAspAspSerGlySerSerSerGluGluSerAspSerAspGlyGluAlaProAlaAlaValThrSerAlaGlnAspGlnGluSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675323" }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "C", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135244.2:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001128716.1:p.Gln329Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677300" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "C", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135245.2:c.754C>T" ], "proteinEffect": { "hgvs": "NP_001128717.1:p.Gln252Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS677301" }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "C", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001195141.2:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001182070.1:p.Gln329Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS679284" }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "C", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001371623.1:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001358552.1:p.Gln329Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS692996", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000643257.2:c.985C>T" }, "RefSeq": { "hgvs": "NM_001371623.1:c.985C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493815.1:p.Gln329Ter" }, "RefSeq": { "hgvs": "NP_001358552.1:p.Gln329Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "C", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN011654", "geneNCBI_id": 6949, "geneSymbol": "TCOF1", "hgvs": [ "NM_001135243.2:c.985C>T" ], "proteinEffect": { "hgvs": "NP_001128715.1:p.Gln329Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS712433" } ], "type": "nucleotide" }