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"XP_016860565.1:p.Arg169_Ser336delinsAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysAspValArgSerThrProLeuIleLeuAsnThrGlnAspValAlaValArgProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560434" }, { "coordinates": [ { "allele": "T", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "XM_017005077.2:c.505C>T" ], "proteinEffect": { "hgvs": "XP_016860566.1:p.Arg169Ter", "hgvsWellDefined": "XP_016860566.1:p.Arg169_Pro330delinsAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysGlyLeuSerLeuGluGlnSerGluValAspIleValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560435" }, { "@id": "http://reg.genome.network/allele/PA143843", "coordinates": [ { "allele": "T", "end": 826, "referenceAllele": "C", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN021014", "geneNCBI_id": 84168, "geneSymbol": "ANTXR1", "hgvs": [ "NM_032208.3:c.505C>T" ], "proteinEffect": { "hgvs": "NP_115584.1:p.Arg169Ter", "hgvsWellDefined": "NP_115584.1:p.Arg169_Val564delinsAspLeuGlyAlaIleValTyrCysValGlyValLysAspPheAsnGluThrGlnLeuAlaArgIleAlaAspSerLysAspHisValPheProValAsnAspGlyPheGlnAlaLeuGlnGlyIleIleHisSerIleLeuLysLysSerCysIleGluIleLeuAlaAlaGluProSerThrIleCysAlaGlyGluSerPheGlnValValValArgGlyAsnGlyPheArgHisAlaArgAsnValAspArgValLeuCysSerPheLysIleAsnAspSerValThrLeuAsnGluLysProPheSerValGluAspThrTyrLeuLeuCysProAlaProIleLeuLysGluValGlyMetLysAlaAlaLeuGlnValSerMetAsnAspGlyLeuSerPheIleSerSerSerValIleIleThrThrThrHisCysSerAspGlySerIleLeuAlaIleAlaLeuLeuIleLeuPheLeuLeuLeuAlaLeuAlaLeuLeuTrpTrpPheTrpProLeuCysCysThrValIleIleLysGluValProProProProAlaGluGluSerGluGluGluAspAspAspGlyLeuProLysLysLysTrpProThrValAspAlaSerTyrTyrGlyGlyArgGlyValGlyGlyIleLysArgMetGluValArgTrpGlyGluLysGlySerThrGluGluGlyAlaLysLeuGluLysAlaLysAsnAlaArgValLysMetProGluGlnGluTyrGluPheProGluProArgAsnLeuAsnAsnAsnMetArgArgProSerSerProArgLysTrpTyrSerProIleLysGlyLysLeuAspAlaLeuTrpValLeuLeuArgLysGlyTyrAspArgValSerValMetArgProGlnProGlyAspThrGlyArgCysIleAsnPheThrArgValLysAsnAsnGlnProAlaLysTyrProLeuAsnAsnAlaTyrHisThrSerSerProProProAlaProIleTyrThrProProProProAlaProHisCysProProProProProSerAlaProThrProProIleProSerProProSerThrLeuProProProProGlnAlaProProProAsnArgAlaProProProSerArgProProProArgProSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728811", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303714.9:c.505C>T" }, "RefSeq": { "hgvs": "NM_032208.3:c.505C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301945.4:p.Arg169Ter" }, "RefSeq": { "hgvs": "NP_115584.1:p.Arg169Ter" } } } } ], "type": "nucleotide" }