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1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000534644.5:n.456C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS359222" }, { "coordinates": [ { "allele": "A", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000611494.4:c.471C>A" ], "proteinEffect": { "hgvs": "ENSP00000484546.1:p.Tyr157Ter", "hgvsWellDefined": "ENSP00000484546.1:p.Tyr157_Cys556delinsGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProThrSerGlnLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400868" }, { "@id": "http://reg.genome.network/allele/PA645510673", "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.3:c.471C>A" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Tyr157Ter", "hgvsWellDefined": "NP_000382.3:p.Tyr157_Pro563delinsGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006452" }, { "@id": "http://reg.genome.network/allele/PA645510673", "coordinates": [ { "allele": "A", "end": 493, "referenceAllele": "C", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.4:c.471C>A" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Tyr157Ter", "hgvsWellDefined": "NP_000382.3:p.Tyr157_Pro563delinsGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299427.12:c.471C>A" }, "RefSeq": { "hgvs": "NM_000391.4:c.471C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299427.6:p.Tyr157Ter" }, "RefSeq": { "hgvs": "NP_000382.3:p.Tyr157Ter" } } } } ], "type": "nucleotide" }