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"referenceAllele": "G", "start": 5546 } ], "gene": "http://reg.genome.network/gene/GN000492", "geneNCBI_id": 286, "geneSymbol": "ANK1", "hgvs": [ "NM_001142446.2:c.5286G>A" ], "proteinEffect": { "hgvs": "NP_001135918.1:p.Trp1762Ter", "hgvsWellDefined": "NP_001135918.1:p.Trp1762_Pro1897delinsGlnGluGluValThrGlnGlyProHisSerPheGlnGlyThrSerThrMetThrGluGlyLeuGluProGlyGlySerGlnGluTyrGluLysValLeuValSerValSerGluHisThrTrpThrGluGlnProGluAlaGluSerSerGlnAlaAspArgAspArgArgGlnGlnGlyGlnGluGluGlnValGlnGluAlaLysAsnThrPheThrGlnValValGlnGlyAsnGluPheGlnAsnIleProGlyGluGlnValThrGluGluGlnPheThrAspGluGlnGlyAsnIleValThrLysLysIleIleArgLysValValArgGlnIleAspLeuSerSerAlaAspAlaAlaGlnGluHisGluGluAspHisThrSerThrProAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677528" }, { "@id": "http://reg.genome.network/allele/PA2829933076", "coordinates": [ { "allele": "A", "end": 5247, "referenceAllele": "G", "start": 5246 } ], "gene": "http://reg.genome.network/gene/GN000492", "geneNCBI_id": 286, "geneSymbol": "ANK1", "hgvs": [ "NM_020475.3:c.5163G>A" ], "proteinEffect": { "hgvs": "NP_065208.2:p.Trp1721Ter", "hgvsWellDefined": "NP_065208.2:p.Trp1721_Pro1856delinsGlnGluGluValThrGlnGlyProHisSerPheGlnGlyThrSerThrMetThrGluGlyLeuGluProGlyGlySerGlnGluTyrGluLysValLeuValSerValSerGluHisThrTrpThrGluGlnProGluAlaGluSerSerGlnAlaAspArgAspArgArgGlnGlnGlyGlnGluGluGlnValGlnGluAlaLysAsnThrPheThrGlnValValGlnGlyAsnGluPheGlnAsnIleProGlyGluGlnValThrGluGluGlnPheThrAspGluGlnGlyAsnIleValThrLysLysIleIleArgLysValValArgGlnIleAspLeuSerSerAlaAspAlaAlaGlnGluHisGluGluAspHisThrSerThrProAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698247" }, { "@id": "http://reg.genome.network/allele/PA2829934050", "coordinates": [ { "allele": "A", "end": 5247, "referenceAllele": "G", "start": 5246 } ], "gene": "http://reg.genome.network/gene/GN000492", "geneNCBI_id": 286, "geneSymbol": "ANK1", "hgvs": [ "NM_020476.3:c.5163G>A" ], "proteinEffect": { "hgvs": "NP_065209.2:p.Trp1721Ter", "hgvsWellDefined": "NP_065209.2:p.Trp1721_Pro1881delinsGlnGluGluValThrGlnGlyProHisSerPheGlnGlyThrSerThrMetThrGluGlyLeuGluProGlyGlySerGlnGluTyrGluLysValLeuValSerValSerGluHisThrTrpThrGluGlnProGluAlaGluSerSerGlnAlaAspArgAspArgArgGlnGlnGlyGlnGluGluGlnValGlnGluAlaLysAsnThrPheThrGlnValValGlnGlyAsnGluPheGlnAsnIleProGlyGluGlnValThrGluGluGlnPheThrAspGluGlnGlyAsnIleValThrLysLysIleIleArgLysValValArgGlnIleAspLeuSerSerAlaAspAlaAlaGlnGluHisGluGluValThrValGluGlyProLeuGluAspProSerGluLeuGluValAspIleAspTyrPheMetLysHisSerLysAspHisThrSerThrProAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698248" }, { "@id": "http://reg.genome.network/allele/PA2829935117", "coordinates": [ { "allele": "A", "end": 4761, "referenceAllele": "G", "start": 4760 } ], "gene": "http://reg.genome.network/gene/GN000492", "geneNCBI_id": 286, "geneSymbol": "ANK1", "hgvs": [ "NM_020477.3:c.4677G>A" ], "proteinEffect": { "hgvs": "NP_065210.2:p.Trp1559Ter", "hgvsWellDefined": 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