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}, "referenceSequence": "http://reg.genome.network/refseq/RS364124" }, { "@id": "http://reg.genome.network/allele/PA2825456154", "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "A", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN011582", "geneNCBI_id": 6905, "geneSymbol": "TBCE", "hgvs": [ "NM_001079515.2:c.433A>T" ], "proteinEffect": { "hgvs": "NP_001072983.1:p.Lys145Ter", "hgvsWellDefined": "NP_001072983.1:p.Lys145_Trp527delinsGlyGlyValAlaGluAlaCysProAsnIleArgLysValAspLeuSerLysAsnLeuLeuSerSerTrpAspGluValIleHisIleAlaAspGlnLeuArgHisLeuGluValLeuAsnValSerGluAsnLysLeuLysPheProSerGlySerValLeuThrGlyThrLeuSerValLeuLysValLeuValLeuAsnGlnThrGlyIleThrTrpAlaGluValLeuArgCysValAlaGlyCysProGlyLeuGluGluLeuTyrLeuGluSerAsnAsnIlePheIleSerGluArgProThrAspValLeuGlnThrValLysLeuLeuAspLeuSerSerAsnGlnLeuIleAspGluAsnGlnLeuTyrLeuIleAlaHisLeuProArgLeuGluGlnLeuIleLeuSerAspThrGlyIleSerSerLeuHisPheProAspAlaGlyIleGlyCysLysThrSerMetPheProSerLeuLysTyrLeuValValAsnAspAsnGlnIleSerGlnTrpSerPhePheAsnGluLeuGluLysLeuProSerLeuArgAlaLeuSerCysLeuArgAsnProLeuThrLysGluAspLysGluAlaGluThrAlaArgLeuLeuIleIleAlaSerIleGlyGlnLeuLysThrLeuAsnLysCysGluIleLeuProGluGluArgArgArgAlaGluLeuAspTyrArgLysAlaPheGlyAsnGluTrpLysGlnAlaGlyGlyHisLysAspProGluLysAsnArgLeuSerGluGluPheLeuThrAlaHisProArgTyrGlnPheLeuCysLeuLysTyrGlyAlaProGluAspTrpGluLeuLysThrGlnGlnProLeuMetLeuLysAsnGlnLeuLeuThrLeuLysIleLysTyrProHisGlnLeuAspGlnLysValLeuGluLysGlnLeuProGlySerMetThrIleGlnLysValLysGlyLeuLeuSerArgLeuLeuLysValProValSerAspLeuLeuLeuSerTyrGluSerProLysLysProGlyArgGluIleGluLeuGluAsnAspLeuLysSerLeuGlnPheTyrSerValGluAsnGlyAspCysLeuLeuValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010058" }, { "@id": "http://reg.genome.network/allele/PA2826704474", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "A", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN011582", "geneNCBI_id": 6905, "geneSymbol": "TBCE", "hgvs": [ "NM_001287801.1:c.433A>T" ], "proteinEffect": { "hgvs": "NP_001274730.1:p.Lys145Ter", "hgvsWellDefined": "NP_001274730.1:p.Lys145_Trp578delinsGlyGlyValAlaGluAlaCysProAsnIleArgLysValAspLeuSerLysAsnLeuLeuSerSerTrpAspGluValIleHisIleAlaAspGlnLeuArgHisLeuGluValLeuAsnValSerGluAsnLysLeuLysPheProSerGlySerValLeuThrGlyThrLeuSerValLeuLysValLeuValLeuAsnGlnThrGlyIleThrTrpAlaGluAlaHisAlaGlnCysGlyGlySerArgHisGlyLeuAspMetGlnLysAspAlaSerLysPheValAspLeuCysValLeuGlnLysCysSerThrSerAsnCysIleIleSerAlaLysAspHisThrSerMetArgMetAsnValAlaLysValLeuArgCysValAlaGlyCysProGlyLeuGluGluLeuTyrLeuGluSerAsnAsnIlePheIleSerGluArgProThrAspValLeuGlnThrValLysLeuLeuAspLeuSerSerAsnGlnLeuIleAspGluAsnGlnLeuTyrLeuIleAlaHisLeuProArgLeuGluGlnLeuIleLeuSerAspThrGlyIleSerSerLeuHisPheProAspAlaGlyIleGlyCysLysThrSerMetPheProSerLeuLysTyrLeuValValAsnAspAsnGlnIleSerGlnTrpSerPhePheAsnGluLeuGluLysLeuProSerLeuArgAlaLeuSerCysLeuArgAsnProLeuThrLysGluAspLysGluAlaGluThrAlaArgLeuLeuIleIleAlaSerIleGlyGlnLeuLysThrLeuAsnLysCysGluIleLeuProGluGluArgArgArgAlaGluLeuAspTyrArgLysAlaPheGlyAsnGluTrpLysGlnAlaGlyGlyHisLysAspProGluLysAsnArgLeuSerGluGluPheLeuThrAlaHisProArgTyrGlnPheLeuCysLeuLysTyrGlyAlaProGluAspTrpGluLeuLysThrGlnGlnProLeuMetLeuLysAsnGlnLeuLeuThrLeuLysIleLysTyrProHisGlnLeuAspGlnLysValLeuGluLysGlnLeuProGlySerMetThrIleGlnLysValLysGlyLeuLeuSerArgLeuLeuLysValProValSerAspLeuLeuLeuSerTyrGluSerProLysLysProGlyArgGluIleGluLeuGluAsnAspLeuLysSerLeuGlnPheTyrSerValGluAsnGlyAspCysLeuLeuValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023445" }, { "@id": "http://reg.genome.network/allele/PA2741856387", "coordinates": [ { "allele": "T", "end": 580, "referenceAllele": "A", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN011582", "geneNCBI_id": 6905, "geneSymbol": "TBCE", "hgvs": [ "NM_001287802.1:c.94A>T" ], "proteinEffect": { "hgvs": "NP_001274731.1:p.Lys32Ter", "hgvsWellDefined": "NP_001274731.1:p.Lys32_Trp414delinsGlyGlyValAlaGluAlaCysProAsnIleArgLysValAspLeuSerLysAsnLeuLeuSerSerTrpAspGluValIleHisIleAlaAspGlnLeuArgHisLeuGluValLeuAsnValSerGluAsnLysLeuLysPheProSerGlySerValLeuThrGlyThrLeuSerValLeuLysValLeuValLeuAsnGlnThrGlyIleThrTrpAlaGluValLeuArgCysValAlaGlyCysProGlyLeuGluGluLeuTyrLeuGluSerAsnAsnIlePheIleSerGluArgProThrAspValLeuGlnThrValLysLeuLeuAspLeuSerSerAsnGlnLeuIleAspGluAsnGlnLeuTyrLeuIleAlaHisLeuProArgLeuGluGlnLeuIleLeuSerAspThrGlyIleSerSerLeuHisPheProAspAlaGlyIleGlyCysLysThrSerMetPheProSerLeuLysTyrLeuValValAsnAspAsnGlnIleSerGlnTrpSerPhePheAsnGluLeuGluLysLeuProSerLeuArgAlaLeuSerCysLeuArgAsnProLeuThrLysGluAspLysGluAlaGluThrAlaArgLeuLeuIleIleAlaSerIleGlyGlnLeuLysThrLeuAsnLysCysGluIleLeuProGluGluArgArgArgAlaGluLeuAspTyrArgLysAlaPheGlyAsnGluTrpLysGlnAlaGlyGlyHisLysAspProGluLysAsnArgLeuSerGluGluPheLeuThrAlaHisProArgTyrGlnPheLeuCysLeuLysTyrGlyAlaProGluAspTrpGluLeuLysThrGlnGlnProLeuMetLeuLysAsnGlnLeuLeuThrLeuLysIleLysTyrProHisGlnLeuAspGlnLysValLeuGluLysGlnLeuProGlySerMetThrIleGlnLysValLysGlyLeuLeuSerArgLeuLeuLysValProValSerAspLeuLeuLeuSerTyrGluSerProLysLysProGlyArgGluIleGluLeuGluAsnAspLeuLysSerLeuGlnPheTyrSerValGluAsnGlyAspCysLeuLeuValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023446" }, { "@id": "http://reg.genome.network/allele/PA2829422814", "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "A", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN011582", "geneNCBI_id": 6905, "geneSymbol": "TBCE", "hgvs": [ "NM_003193.4:c.433A>T" ], "proteinEffect": { "hgvs": "NP_003184.1:p.Lys145Ter", "hgvsWellDefined": "NP_003184.1:p.Lys145_Trp527delinsGlyGlyValAlaGluAlaCysProAsnIleArgLysValAspLeuSerLysAsnLeuLeuSerSerTrpAspGluValIleHisIleAlaAspGlnLeuArgHisLeuGluValLeuAsnValSerGluAsnLysLeuLysPheProSerGlySerValLeuThrGlyThrLeuSerValLeuLysValLeuValLeuAsnGlnThrGlyIleThrTrpAlaGluValLeuArgCysValAlaGlyCysProGlyLeuGluGluLeuTyrLeuGluSerAsnAsnIlePheIleSerGluArgProThrAspValLeuGlnThrValLysLeuLeuAspLeuSerSerAsnGlnLeuIleAspGluAsnGlnLeuTyrLeuIleAlaHisLeuProArgLeuGluGlnLeuIleLeuSerAspThrGlyIleSerSerLeuHisPheProAspAlaGlyIleGlyCysLysThrSerMetPheProSerLeuLysTyrLeuValValAsnAspAsnGlnIleSerGlnTrpSerPhePheAsnGluLeuGluLysLeuProSerLeuArgAlaLeuSerCysLeuArgAsnProLeuThrLysGluAspLysGluAlaGluThrAlaArgLeuLeuIleIleAlaSerIleGlyGlnLeuLysThrLeuAsnLysCysGluIleLeuProGluGluArgArgArgAlaGluLeuAspTyrArgLysAlaPheGlyAsnGluTrpLysGlnAlaGlyGlyHisLysAspProGluLysAsnArgLeuSerGluGluPheLeuThrAlaHisProArgTyrGlnPheLeuCysLeuLysTyrGlyAlaProGluAspTrpGluLeuLysThrGlnGlnProLeuMetLeuLysAsnGlnLeuLeuThrLeuLysIleLysTyrProHisGlnLeuAspGlnLysValLeuGluLysGlnLeuProGlySerMetThrIleGlnLysValLysGlyLeuLeuSerArgLeuLeuLysValProValSerAspLeuLeuLeuSerTyrGluSerProLysLysProGlyArgGluIleGluLeuGluAsnAspLeuLysSerLeuGlnPheTyrSerValGluAsnGlyAspCysLeuLeuValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028459" }, { "@id": "http://reg.genome.network/allele/PA2829422814", "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "A", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011582", "geneNCBI_id": 6905, "geneSymbol": "TBCE", "hgvs": [ "NM_003193.5:c.433A>T" ], "proteinEffect": { "hgvs": "NP_003184.1:p.Lys145Ter", "hgvsWellDefined": "NP_003184.1:p.Lys145_Trp527delinsGlyGlyValAlaGluAlaCysProAsnIleArgLysValAspLeuSerLysAsnLeuLeuSerSerTrpAspGluValIleHisIleAlaAspGlnLeuArgHisLeuGluValLeuAsnValSerGluAsnLysLeuLysPheProSerGlySerValLeuThrGlyThrLeuSerValLeuLysValLeuValLeuAsnGlnThrGlyIleThrTrpAlaGluValLeuArgCysValAlaGlyCysProGlyLeuGluGluLeuTyrLeuGluSerAsnAsnIlePheIleSerGluArgProThrAspValLeuGlnThrValLysLeuLeuAspLeuSerSerAsnGlnLeuIleAspGluAsnGlnLeuTyrLeuIleAlaHisLeuProArgLeuGluGlnLeuIleLeuSerAspThrGlyIleSerSerLeuHisPheProAspAlaGlyIleGlyCysLysThrSerMetPheProSerLeuLysTyrLeuValValAsnAspAsnGlnIleSerGlnTrpSerPhePheAsnGluLeuGluLysLeuProSerLeuArgAlaLeuSerCysLeuArgAsnProLeuThrLysGluAspLysGluAlaGluThrAlaArgLeuLeuIleIleAlaSerIleGlyGlnLeuLysThrLeuAsnLysCysGluIleLeuProGluGluArgArgArgAlaGluLeuAspTyrArgLysAlaPheGlyAsnGluTrpLysGlnAlaGlyGlyHisLysAspProGluLysAsnArgLeuSerGluGluPheLeuThrAlaHisProArgTyrGlnPheLeuCysLeuLysTyrGlyAlaProGluAspTrpGluLeuLysThrGlnGlnProLeuMetLeuLysAsnGlnLeuLeuThrLeuLysIleLysTyrProHisGlnLeuAspGlnLysValLeuGluLysGlnLeuProGlySerMetThrIleGlnLysValLysGlyLeuLeuSerArgLeuLeuLysValProValSerAspLeuLeuLeuSerTyrGluSerProLysLysProGlyArgGluIleGluLeuGluAsnAspLeuLysSerLeuGlnPheTyrSerValGluAsnGlyAspCysLeuLeuValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665921", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642610.2:c.433A>T" }, "RefSeq": { "hgvs": "NM_003193.5:c.433A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494796.1:p.Lys145Ter" }, "RefSeq": { "hgvs": "NP_003184.1:p.Lys145Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825456154", "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "A", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN011582", "geneNCBI_id": 6905, "geneSymbol": "TBCE", "hgvs": [ "NM_001079515.3:c.433A>T" ], "proteinEffect": { "hgvs": "NP_001072983.1:p.Lys145Ter", "hgvsWellDefined": "NP_001072983.1:p.Lys145_Trp527delinsGlyGlyValAlaGluAlaCysProAsnIleArgLysValAspLeuSerLysAsnLeuLeuSerSerTrpAspGluValIleHisIleAlaAspGlnLeuArgHisLeuGluValLeuAsnValSerGluAsnLysLeuLysPheProSerGlySerValLeuThrGlyThrLeuSerValLeuLysValLeuValLeuAsnGlnThrGlyIleThrTrpAlaGluValLeuArgCysValAlaGlyCysProGlyLeuGluGluLeuTyrLeuGluSerAsnAsnIlePheIleSerGluArgProThrAspValLeuGlnThrValLysLeuLeuAspLeuSerSerAsnGlnLeuIleAspGluAsnGlnLeuTyrLeuIleAlaHisLeuProArgLeuGluGlnLeuIleLeuSerAspThrGlyIleSerSerLeuHisPheProAspAlaGlyIleGlyCysLysThrSerMetPheProSerLeuLysTyrLeuValValAsnAspAsnGlnIleSerGlnTrpSerPhePheAsnGluLeuGluLysLeuProSerLeuArgAlaLeuSerCysLeuArgAsnProLeuThrLysGluAspLysGluAlaGluThrAlaArgLeuLeuIleIleAlaSerIleGlyGlnLeuLysThrLeuAsnLysCysGluIleLeuProGluGluArgArgArgAlaGluLeuAspTyrArgLysAlaPheGlyAsnGluTrpLysGlnAlaGlyGlyHisLysAspProGluLysAsnArgLeuSerGluGluPheLeuThrAlaHisProArgTyrGlnPheLeuCysLeuLysTyrGlyAlaProGluAspTrpGluLeuLysThrGlnGlnProLeuMetLeuLysAsnGlnLeuLeuThrLeuLysIleLysTyrProHisGlnLeuAspGlnLysValLeuGluLysGlnLeuProGlySerMetThrIleGlnLysValLysGlyLeuLeuSerArgLeuLeuLysValProValSerAspLeuLeuLeuSerTyrGluSerProLysLysProGlyArgGluIleGluLeuGluAsnAspLeuLysSerLeuGlnPheTyrSerValGluAsnGlyAspCysLeuLeuValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676200" }, { "@id": "http://reg.genome.network/allele/PA2826704474", "coordinates": [ { "allele": "T", "end": 542, "referenceAllele": "A", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN011582", "geneNCBI_id": 6905, "geneSymbol": "TBCE", "hgvs": [ "NM_001287801.2:c.433A>T" ], "proteinEffect": { "hgvs": "NP_001274730.1:p.Lys145Ter", "hgvsWellDefined": "NP_001274730.1:p.Lys145_Trp578delinsGlyGlyValAlaGluAlaCysProAsnIleArgLysValAspLeuSerLysAsnLeuLeuSerSerTrpAspGluValIleHisIleAlaAspGlnLeuArgHisLeuGluValLeuAsnValSerGluAsnLysLeuLysPheProSerGlySerValLeuThrGlyThrLeuSerValLeuLysValLeuValLeuAsnGlnThrGlyIleThrTrpAlaGluAlaHisAlaGlnCysGlyGlySerArgHisGlyLeuAspMetGlnLysAspAlaSerLysPheValAspLeuCysValLeuGlnLysCysSerThrSerAsnCysIleIleSerAlaLysAspHisThrSerMetArgMetAsnValAlaLysValLeuArgCysValAlaGlyCysProGlyLeuGluGluLeuTyrLeuGluSerAsnAsnIlePheIleSerGluArgProThrAspValLeuGlnThrValLysLeuLeuAspLeuSerSerAsnGlnLeuIleAspGluAsnGlnLeuTyrLeuIleAlaHisLeuProArgLeuGluGlnLeuIleLeuSerAspThrGlyIleSerSerLeuHisPheProAspAlaGlyIleGlyCysLysThrSerMetPheProSerLeuLysTyrLeuValValAsnAspAsnGlnIleSerGlnTrpSerPhePheAsnGluLeuGluLysLeuProSerLeuArgAlaLeuSerCysLeuArgAsnProLeuThrLysGluAspLysGluAlaGluThrAlaArgLeuLeuIleIleAlaSerIleGlyGlnLeuLysThrLeuAsnLysCysGluIleLeuProGluGluArgArgArgAlaGluLeuAspTyrArgLysAlaPheGlyAsnGluTrpLysGlnAlaGlyGlyHisLysAspProGluLysAsnArgLeuSerGluGluPheLeuThrAlaHisProArgTyrGlnPheLeuCysLeuLysTyrGlyAlaProGluAspTrpGluLeuLysThrGlnGlnProLeuMetLeuLysAsnGlnLeuLeuThrLeuLysIleLysTyrProHisGlnLeuAspGlnLysValLeuGluLysGlnLeuProGlySerMetThrIleGlnLysValLysGlyLeuLeuSerArgLeuLeuLysValProValSerAspLeuLeuLeuSerTyrGluSerProLysLysProGlyArgGluIleGluLeuGluAsnAspLeuLysSerLeuGlnPheTyrSerValGluAsnGlyAspCysLeuLeuValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682439" }, { "@id": "http://reg.genome.network/allele/PA2741856387", "coordinates": [ { "allele": "T", "end": 513, "referenceAllele": "A", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN011582", "geneNCBI_id": 6905, "geneSymbol": "TBCE", "hgvs": [ "NM_001287802.2:c.94A>T" ], "proteinEffect": { "hgvs": "NP_001274731.1:p.Lys32Ter", "hgvsWellDefined": "NP_001274731.1:p.Lys32_Trp414delinsGlyGlyValAlaGluAlaCysProAsnIleArgLysValAspLeuSerLysAsnLeuLeuSerSerTrpAspGluValIleHisIleAlaAspGlnLeuArgHisLeuGluValLeuAsnValSerGluAsnLysLeuLysPheProSerGlySerValLeuThrGlyThrLeuSerValLeuLysValLeuValLeuAsnGlnThrGlyIleThrTrpAlaGluValLeuArgCysValAlaGlyCysProGlyLeuGluGluLeuTyrLeuGluSerAsnAsnIlePheIleSerGluArgProThrAspValLeuGlnThrValLysLeuLeuAspLeuSerSerAsnGlnLeuIleAspGluAsnGlnLeuTyrLeuIleAlaHisLeuProArgLeuGluGlnLeuIleLeuSerAspThrGlyIleSerSerLeuHisPheProAspAlaGlyIleGlyCysLysThrSerMetPheProSerLeuLysTyrLeuValValAsnAspAsnGlnIleSerGlnTrpSerPhePheAsnGluLeuGluLysLeuProSerLeuArgAlaLeuSerCysLeuArgAsnProLeuThrLysGluAspLysGluAlaGluThrAlaArgLeuLeuIleIleAlaSerIleGlyGlnLeuLysThrLeuAsnLysCysGluIleLeuProGluGluArgArgArgAlaGluLeuAspTyrArgLysAlaPheGlyAsnGluTrpLysGlnAlaGlyGlyHisLysAspProGluLysAsnArgLeuSerGluGluPheLeuThrAlaHisProArgTyrGlnPheLeuCysLeuLysTyrGlyAlaProGluAspTrpGluLeuLysThrGlnGlnProLeuMetLeuLysAsnGlnLeuLeuThrLeuLysIleLysTyrProHisGlnLeuAspGlnLysValLeuGluLysGlnLeuProGlySerMetThrIleGlnLysValLysGlyLeuLeuSerArgLeuLeuLysValProValSerAspLeuLeuLeuSerTyrGluSerProLysLysProGlyArgGluIleGluLeuGluAsnAspLeuLysSerLeuGlnPheTyrSerValGluAsnGlyAspCysLeuLeuValArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716431" } ], "type": "nucleotide" }