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"proteinEffect": { "hgvs": "ENSP00000299427.6:p.Tyr79Ter", "hgvsWellDefined": "ENSP00000299427.6:p.Tyr79_Pro563delinsLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254722" }, { "coordinates": [ { "allele": "G", "end": 259, "referenceAllele": "C", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000428886.6:n.259C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS290414" }, { "coordinates": [ { "allele": "G", "end": 266, "referenceAllele": "C", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000436873.6:c.237C>G" ], "proteinEffect": { "hgvs": "ENSP00000398136.2:p.Tyr79Ter", "hgvsWellDefined": "ENSP00000398136.2:p.Tyr79_Leu177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS294190" }, { "coordinates": [ { "allele": "G", "end": 119, "referenceAllele": "C", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528571.5:c.97C>G" ], "proteinEffect": { "hgvs": "ENSP00000434647.1:p.Pro33Ala", "hgvsWellDefined": "ENSP00000434647.1:p.Pro33Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS354090" }, { "coordinates": [ { "allele": "G", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000528917.1:n.538C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS354382" }, { "coordinates": [ { "allele": "G", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000530040.1:n.349C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS355356" }, { "coordinates": [ { "allele": "G", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000533371.5:c.-493C>G" ], "proteinEffect": { "hgvs": "ENSP00000437066.1:n.-493C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS358154" }, { "coordinates": [ { "allele": "G", "end": 222, "referenceAllele": "C", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000534644.5:n.222C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS359222" }, { "coordinates": [ { "allele": "G", "end": 267, "referenceAllele": "C", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "ENST00000611494.4:c.237C>G" ], "proteinEffect": { "hgvs": "ENSP00000484546.1:p.Tyr79Ter", "hgvsWellDefined": "ENSP00000484546.1:p.Tyr79_Cys556delinsLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProThrSerGlnLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400868" }, { "@id": "http://reg.genome.network/allele/PA658826692", "coordinates": [ { "allele": "G", "end": 298, "referenceAllele": "C", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.3:c.237C>G" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Tyr79Ter", "hgvsWellDefined": "NP_000382.3:p.Tyr79_Pro563delinsLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006452" }, { "@id": "http://reg.genome.network/allele/PA658826692", "coordinates": [ { "allele": "G", "end": 259, "referenceAllele": "C", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN002073", "geneNCBI_id": 1200, "geneSymbol": "TPP1", "hgvs": [ "NM_000391.4:c.237C>G" ], "proteinEffect": { "hgvs": "NP_000382.3:p.Tyr79Ter", "hgvsWellDefined": "NP_000382.3:p.Tyr79_Pro563delinsLeuThrLeuGluAsnValAlaAspLeuValArgProSerProLeuThrLeuHisThrValGlnLysTrpLeuLeuAlaAlaGlyAlaGlnLysCysHisSerValIleThrGlnAspPheLeuThrCysTrpLeuSerIleArgGlnAlaGluLeuLeuLeuProGlyAlaGluPheHisHisTyrValGlyGlyProThrGluThrHisValValArgSerProHisProTyrGlnLeuProGlnAlaLeuAlaProHisValAspPheValGlyGlyLeuHisArgPheProProThrSerSerLeuArgGlnArgProGluProGlnValThrGlyThrValGlyLeuHisLeuGlyValThrProSerValIleArgLysArgTyrAsnLeuThrSerGlnAspValGlySerGlyThrSerAsnAsnSerGlnAlaCysAlaGlnPheLeuGluGlnTyrPheHisAspSerAspLeuAlaGlnPheMetArgLeuPheGlyGlyAsnPheAlaHisGlnAlaSerValAlaArgValValGlyGlnGlnGlyArgGlyArgAlaGlyIleGluAlaSerLeuAspValGlnTyrLeuMetSerAlaGlyAlaAsnIleSerThrTrpValTyrSerSerProGlyArgHisGluGlyGlnGluProPheLeuGlnTrpLeuMetLeuLeuSerAsnGluSerAlaLeuProHisValHisThrValSerTyrGlyAspAspGluAspSerLeuSerSerAlaTyrIleGlnArgValAsnThrGluLeuMetLysAlaAlaAlaArgGlyLeuThrLeuLeuPheAlaSerGlyAspSerGlyAlaGlyCysTrpSerValSerGlyArgHisGlnPheArgProThrPheProAlaSerSerProTyrValThrThrValGlyGlyThrSerPheGlnGluProPheLeuIleThrAsnGluIleValAspTyrIleSerGlyGlyGlyPheSerAsnValPheProArgProSerTyrGlnGluGluAlaValThrLysPheLeuSerSerSerProHisLeuProProSerSerTyrPheAsnAlaSerGlyArgAlaTyrProAspValAlaAlaLeuSerAspGlyTyrTrpValValSerAsnArgValProIleProTrpValSerGlyThrSerAlaSerThrProValPheGlyGlyIleLeuSerLeuIleAsnGluHisArgIleLeuSerGlyArgProProLeuGlyPheLeuAsnProArgLeuTyrGlnGlnHisGlyAlaGlyLeuPheAspValThrArgGlyCysHisGluSerCysLeuAspGluGluValGluGlyGlnGlyPheCysSerGlyProGlyTrpAspProValThrGlyTrpGlyThrProAsnPheProAlaLeuLeuLysThrLeuLeuAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662423", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299427.12:c.237C>G" }, "RefSeq": { "hgvs": "NM_000391.4:c.237C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299427.6:p.Tyr79Ter" }, "RefSeq": { "hgvs": "NP_000382.3:p.Tyr79Ter" } } } } ], "type": "nucleotide" }