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}, "referenceSequence": "http://reg.genome.network/refseq/RS753424" }, { "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.6:c.324G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Trp108Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753425" }, { "coordinates": [ { "allele": "A", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000650719.1:c.324G>A" ], "proteinEffect": { "hgvs": "ENSP00000498276.1:p.Trp108Ter", "hgvsWellDefined": "ENSP00000498276.1:p.Trp108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS771271" }, { "coordinates": [ { "allele": "A", "end": 463, "referenceAllele": "G", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000651095.1:n.463G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771466" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "G", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000651196.1:c.324G>A" ], 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"referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000652237.1:n.600G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772094" }, { "coordinates": [ { "allele": "A", "end": 72, "referenceAllele": "G", "start": 71 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000652352.1:c.72G>A" ], "proteinEffect": { "hgvs": "ENSP00000498579.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000498579.1:p.Trp24_Met107delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysGluAlaProTrpIleSerTrpSerLeuPheLeuAspSerMetSerSerArgAlaGlnSerArgCysLysCysCysTrpThrArgArgAlaAlaValSerTrpValArgValSerSerTrpPheLeuArgThrGluSerTyrMetGlnProGluMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772157" }, { "coordinates": [ { "allele": "A", "end": 487, "referenceAllele": "G", "start": 486 } ], 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"ENSP00000252029.3:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249780" }, { "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395678.7:c.324G>A" ], "proteinEffect": { "hgvs": "ENSP00000379036.3:p.Trp108Ter", "hgvsWellDefined": "ENSP00000379036.3:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276828" }, { "coordinates": [ { "allele": "A", "end": 465, "referenceAllele": "G", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.5:c.324G>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Trp108Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS276830" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.5:c.324G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Trp108Ter", "hgvsWellDefined": 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"NP_001107227.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011278" }, { "@id": "http://reg.genome.network/allele/PA2825568288", "coordinates": [ { "allele": "A", "end": 700, "referenceAllele": "G", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.2:c.324G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Trp108Ter", "hgvsWellDefined": "NP_001107228.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011279" }, { "@id": "http://reg.genome.network/allele/PA2826449376", "coordinates": [ { "allele": "A", "end": 551, "referenceAllele": "G", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257988.1:c.324G>A", "LRG_727t1:c.324G>A" ], "proteinEffect": { "hgvs": "NP_001244917.1:p.Trp108Ter", "hgvsWellDefined": "NP_001244917.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019659" }, { "@id": "http://reg.genome.network/allele/PA2826449888", "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257989.1:c.324G>A", "LRG_727t2:c.324G>A" ], "proteinEffect": { "hgvs": "NP_001244918.1:p.Trp108Ter", "hgvsWellDefined": "NP_001244918.1:p.Trp108_Gln487delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspAlaProLeuProAlaGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019660" }, { "@id": "http://reg.genome.network/allele/PA2580252684", "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.4:c.324G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Trp108Ter", "hgvsWellDefined": "NP_001944.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027279" }, { "@id": "http://reg.genome.network/allele/PA2825567749", "coordinates": [ { "allele": "A", "end": 455, "referenceAllele": "G", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.3:c.324G>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Trp108Ter", "hgvsWellDefined": "NP_001107227.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676724" }, { "@id": "http://reg.genome.network/allele/PA2825568288", "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.3:c.324G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Trp108Ter", "hgvsWellDefined": "NP_001107228.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676725" }, { "@id": "http://reg.genome.network/allele/PA2580252684", "coordinates": [ { "allele": "A", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.5:c.324G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Trp108Ter", "hgvsWellDefined": "NP_001944.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.324G>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.324G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Trp108Ter" }, "RefSeq": { "hgvs": "NP_001944.1:p.Trp108Ter" } } } } ], "type": "nucleotide" }