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"NP_001036037.1:p.Arg114_Lys501delinsSerArgGlnGluProSerArgPheAsnIleLysGluGluAlaSerSerGlySerGluSerGlySerProLysArgArgGlyGlnArgGlnLeuLysLysGlnGluLysTrpLysGlnGluProSerGluAspGluGlnGluGlnGlyThrSerAlaGluSerGluProGluGlnLysLysValLysAlaArgArgProValProArgArgThrValProLysProArgValLysLysGlnProLysThrGlnArgGlyLysArgLysLysGlnAspSerSerAspGluAspAspAspAspAspGluAlaProLysArgGlnThrArgArgArgAlaAlaLysAsnValSerTyrLysGluAspAspAspPheGluThrAspSerAspAspLeuIleGluMetThrGlyGluGlyValAspGluGlnGlnAspAsnSerGluThrIleGluLysValLeuAspSerArgLeuGlyLysLysGlyAlaThrGlyAlaSerThrThrValTyrAlaIleGluAlaAsnGlyAspProSerGlyAspPheAspThrGluLysAspGluGlyGluIleGlnTyrLeuIleLysTrpLysGlyTrpSerTyrIleHisSerThrTrpGluSerGluGluSerLeuGlnGlnGlnLysValLysGlyLeuLysLysLeuGluAsnPheLysLysLysGluAspGluIleLysGlnTrpLeuGlyLysValSerProGluAspValGluTyrPheAsnCysGlnGlnGluLeuAlaSerGluLeuAsnLysGlnTyrGlnIleValGluArgValIleAlaValLysThrSerLysSerThrLeuGlyGlnThrAspPheProAlaHisSerArgLysProAlaProSerAsnGluProGluTyrLeuCysLysTrpMetGlyLeuProTyrSerGluCysSerTrpGluAspGluAlaLeuIleGlyLysLysPheGlnAsnCysIleAspSerPheHisSerArgAsnAsnSerLysThrIleProThrArgGluCysLysAlaLeuLysGlnArgProArgPheValAlaLeuLysLysGlnProAlaTyrLeuGlyGlyGluAsnLeuGluLeuArgAspTyrGlnLeuGluGlyLeuAsnTrpLeuAlaHisSerTrpCysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009759" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN001917", "geneNCBI_id": 1106, "geneSymbol": "CHD2", "hgvs": [ "NM_001271.3:c.340C>T" ], "proteinEffect": { "hgvs": "NP_001262.3:p.Arg114Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS020465" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN001917", "geneNCBI_id": 1106, "geneSymbol": "CHD2", "hgvs": [ "NM_001271.4:c.340C>T" ], "proteinEffect": { "hgvs": "NP_001262.3:p.Arg114Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS664130", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394196.9:c.340C>T" }, "RefSeq": { "hgvs": "NM_001271.4:c.340C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377747.4:p.Arg114Ter" }, "RefSeq": { "hgvs": "NP_001262.3:p.Arg114Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825412916", "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN001917", "geneNCBI_id": 1106, "geneSymbol": "CHD2", "hgvs": [ "NM_001042572.3:c.340C>T" ], "proteinEffect": { "hgvs": "NP_001036037.1:p.Arg114Ter", "hgvsWellDefined": "NP_001036037.1:p.Arg114_Lys501delinsSerArgGlnGluProSerArgPheAsnIleLysGluGluAlaSerSerGlySerGluSerGlySerProLysArgArgGlyGlnArgGlnLeuLysLysGlnGluLysTrpLysGlnGluProSerGluAspGluGlnGluGlnGlyThrSerAlaGluSerGluProGluGlnLysLysValLysAlaArgArgProValProArgArgThrValProLysProArgValLysLysGlnProLysThrGlnArgGlyLysArgLysLysGlnAspSerSerAspGluAspAspAspAspAspGluAlaProLysArgGlnThrArgArgArgAlaAlaLysAsnValSerTyrLysGluAspAspAspPheGluThrAspSerAspAspLeuIleGluMetThrGlyGluGlyValAspGluGlnGlnAspAsnSerGluThrIleGluLysValLeuAspSerArgLeuGlyLysLysGlyAlaThrGlyAlaSerThrThrValTyrAlaIleGluAlaAsnGlyAspProSerGlyAspPheAspThrGluLysAspGluGlyGluIleGlnTyrLeuIleLysTrpLysGlyTrpSerTyrIleHisSerThrTrpGluSerGluGluSerLeuGlnGlnGlnLysValLysGlyLeuLysLysLeuGluAsnPheLysLysLysGluAspGluIleLysGlnTrpLeuGlyLysValSerProGluAspValGluTyrPheAsnCysGlnGlnGluLeuAlaSerGluLeuAsnLysGlnTyrGlnIleValGluArgValIleAlaValLysThrSerLysSerThrLeuGlyGlnThrAspPheProAlaHisSerArgLysProAlaProSerAsnGluProGluTyrLeuCysLysTrpMetGlyLeuProTyrSerGluCysSerTrpGluAspGluAlaLeuIleGlyLysLysPheGlnAsnCysIleAspSerPheHisSerArgAsnAsnSerLysThrIleProThrArgGluCysLysAlaLeuLysGlnArgProArgPheValAlaLeuLysLysGlnProAlaTyrLeuGlyGlyGluAsnLeuGluLeuArgAspTyrGlnLeuGluGlyLeuAsnTrpLeuAlaHisSerTrpCysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676060" } ], "type": "nucleotide" }