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"http://reg.genome.network/refseq/RS546362" }, { "@id": "http://reg.genome.network/allele/PA2825041773", "coordinates": [ { "allele": "A", "end": 3609, "referenceAllele": "T", "start": 3608 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_000057.4:c.3510T>A" ], "proteinEffect": { "hgvs": "NP_000048.1:p.Tyr1170Ter", "hgvsWellDefined": "NP_000048.1:p.Tyr1170_Ser1417delinsValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662304", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355112.8:c.3510T>A" }, "RefSeq": { "hgvs": "NM_000057.4:c.3510T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347232.3:p.Tyr1170Ter" }, "RefSeq": { "hgvs": "NP_000048.1:p.Tyr1170Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826738565", "coordinates": [ { "allele": "A", "end": 3719, "referenceAllele": "T", "start": 3718 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287246.2:c.3510T>A" ], "proteinEffect": { "hgvs": "NP_001274175.1:p.Tyr1170Ter", "hgvsWellDefined": "NP_001274175.1:p.Tyr1170_Ser1417delinsValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682382" }, { "coordinates": [ { "allele": "A", "end": 3457, "endIntronDirection": "+", "endIntronOffset": 5335, "referenceAllele": "T", "start": 3457, "startIntronDirection": "+", "startIntronOffset": 5334 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287247.2:c.3358+5335T>A" ], "proteinEffect": { "hgvs": "NP_001274176.1:n.3358+5335T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS682383" }, { "@id": "http://reg.genome.network/allele/PA2580197209", "coordinates": [ { "allele": "A", "end": 3775, "referenceAllele": "T", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN001058", "geneNCBI_id": 641, "geneSymbol": "BLM", "hgvs": [ "NM_001287248.2:c.2385T>A" ], "proteinEffect": { "hgvs": "NP_001274177.1:p.Tyr795Ter", "hgvsWellDefined": "NP_001274177.1:p.Tyr795_Ser1042delinsValMetLeuGlyAsnLysAlaGlnThrValLeuAsnGlyAsnLeuLysValAspPheMetGluThrGluAsnSerSerSerValLysLysGlnLysAlaLeuValAlaLysValSerGlnArgGluGluMetValLysLysCysLeuGlyGluLeuThrGluValCysLysSerLeuGlyLysValPheGlyValHisTyrPheAsnIlePheAsnThrValThrLeuLysLysLeuAlaGluSerLeuSerSerAspProGluValLeuLeuGlnIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682384" } ], "type": "nucleotide" }