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"XP_011519687.1:p.Arg440_Trp1129delinsAsnIleLeuSerSerAspLeuIleLysIleIleTyrValAspGlyAsnThrGlnAlaLeuLeuAspThrGluLeuProGlyGlyAspLysAlaAspAlaSerLeuLeuAspProArgValGlyIleArgSerValCysValSerProAsnGlyGlnHisLeuAlaSerGlyAspArgMetGlyThrLeuArgValHisGluLeuGlnSerLeuSerGluMetLeuLysValGluAlaHisAspSerGluIleLeuCysLeuGluTyrSerLysProAspThrGlyLeuLysLeuLeuAlaSerAlaSerArgAspArgLeuIleHisValLeuAspAlaGlyArgGluTyrSerLeuGlnGlnThrLeuAspGluHisSerSerSerIleThrAlaValLysPheAlaAlaSerAspGlyGlnValArgMetIleSerCysGlyAlaAspLysSerIleTyrPheArgThrAlaGlnLysSerGlyAspGlyValGlnPheThrArgThrHisHisValValArgLysThrThrLeuTyrAspMetAspValGluProSerTrpLysTyrThrAlaIleGlyCysGlnAspArgAsnIleArgIlePheAsnIleSerSerGlyLysGlnLysLysLeuPheLysGlySerGlnGlyGluAspGlyThrLeuIleLysValGlnThrAspProSerGlyIleTyrIleAlaThrSerCysSerAspLysAsnLeuSerIlePheAspPheSerSerGlyGluCysValAlaThrMetPheGlyHisSerGluIleValThrGlyMetLysPheSerAsnAspCysLysHisLeuIleSerValSerGlyAspSerCysIlePheValTrpArgLeuSerSerGluMetThrIleSerMetArgGlnArgLeuAlaGluLeuArgGlnArgGlnArgGlyGlyLysGlnGlnGlyProSerSerProGlnArgAlaSerGlyProAsnArgHisGlnAlaProSerMetLeuSerProGlyProAlaLeuSerSerAspSerAspLysGluGlyGluAspGluGlyThrGluGluGluLeuProAlaLeuProValLeuAlaLysSerThrLysLysAlaLeuAlaSerValProSerProAlaLeuProArgSerLeuSerHisTrpGluMetSerArgAlaGlnGluSerValGlyPheLeuAspProAlaProAlaAlaAsnProGlyProArgArgArgGlyArgTrpValGlnProGlyValGluLeuSerValArgSerMetLeuAspLeuArgGlnLeuGluThrLeuAlaProSerLeuGlnAspProSerGlnAspSerLeuAlaIleIleProSerGlyProArgLysHisGlyGlnGluAlaLeuGluThrSerLeuThrSerGlnAsnGluLysProProArgProGlnAlaSerGlnProCysSerTyrProHisIleIleArgLeuLeuSerGlnGluGluGlyValPheAlaGlnAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyProArgGluValArgValSerGluTyrLeuPheThrIleProValAlaSerThrAspProProThrGlnGlyThrIleProIleLeuLeuLysProGlyThrAspValGluThrSerProGlyAlaThrGlyIleTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088546" }, { "coordinates": [ { "allele": "T", "end": 1418, "endIntronDirection": "-", "endIntronOffset": 235, "referenceAllele": "C", "start": 1418, "startIntronDirection": "-", "startIntronOffset": 236 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "XM_006720438.2:c.1171-236C>T" ], "proteinEffect": { "hgvs": "XP_006720501.1:n.1171-236C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540093" }, { "coordinates": [ { "allele": "T", "end": 1436, "endIntronDirection": "-", "endIntronOffset": 235, "referenceAllele": "C", "start": 1436, "startIntronDirection": "-", "startIntronOffset": 236 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "XM_011521383.2:c.1189-236C>T" ], "proteinEffect": { "hgvs": "XP_011519685.1:n.1189-236C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS546123" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "XM_011521384.3:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_011519686.1:p.Arg440Ter", "hgvsWellDefined": "XP_011519686.1:p.Arg440_Pro1412delinsAsnIleLeuSerSerAspLeuIleLysIleIleTyrValAspGlyAsnThrGlnAlaLeuLeuAspThrGluLeuProGlyGlyAspLysAlaAspAlaSerLeuLeuAspProArgValGlyIleArgSerValCysValSerProAsnGlyGlnHisLeuAlaSerGlyAspArgMetGlyThrLeuArgValHisGluLeuGlnSerLeuSerGluMetLeuLysValGluAlaHisAspSerGluIleLeuCysLeuGluTyrSerLysProAspThrGlyLeuLysLeuLeuAlaSerAlaSerArgAspArgLeuIleHisValLeuAspAlaGlyArgGluTyrSerLeuGlnGlnThrLeuAspGluHisSerSerSerIleThrAlaValLysPheAlaAlaSerAspGlyGlnValArgMetIleSerCysGlyAlaAspLysSerIleTyrPheArgThrAlaGlnLysSerGlyAspGlyValGlnPheThrArgThrHisHisValValArgLysThrThrLeuTyrAspMetAspValGluProSerTrpLysTyrThrAlaIleGlyCysGlnAspArgAsnIleArgIlePheAsnIleSerSerGlyLysGlnLysLysLeuPheLysGlySerGlnGlyGluAspGlyThrLeuIleLysValGlnThrAspProSerGlyIleTyrIleAlaThrSerCysSerAspLysAsnLeuSerIlePheAspPheSerSerGlyGluCysValAlaThrMetPheGlyHisSerGluIleValThrGlyMetLysPheSerAsnAspCysLysHisLeuIleSerValSerGlyAspSerCysIlePheValTrpArgLeuSerSerGluMetThrIleSerMetArgGlnArgLeuAlaGluLeuArgGlnArgGlnArgGlyGlyLysGlnGlnGlyProSerSerProGlnArgAlaSerGlyProAsnArgHisGlnAlaProSerMetLeuSerProGlyProAlaLeuSerSerAspSerAspLysGluGlyGluAspGluGlyThrGluGluGluLeuProAlaLeuProValLeuAlaLysSerThrLysLysAlaLeuAlaSerValProSerProAlaLeuProArgSerLeuSerHisTrpGluMetSerArgAlaGlnGluSerValGlyPheLeuAspProAlaProAlaAlaAsnProGlyProArgArgArgGlyArgTrpValGlnProGlyValGluLeuSerValArgSerMetLeuAspLeuArgGlnLeuGluThrLeuAlaProSerLeuGlnAspProSerGlnAspSerLeuAlaIleIleProSerGlyProArgLysHisGlyGlnGluAlaLeuGluThrSerLeuThrSerGlnAsnGluLysProProArgProGlnAlaSerGlnProCysSerTyrProHisIleIleArgLeuLeuSerGlnGluGluGlyValPheAlaGlnAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546124" }, { "coordinates": [ { "allele": "T", "end": 1714, "endIntronDirection": "-", "endIntronOffset": 235, "referenceAllele": "C", "start": 1714, "startIntronDirection": "-", "startIntronOffset": 236 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "XM_017022017.1:c.1189-236C>T" ], "proteinEffect": { "hgvs": "XP_016877506.1:n.1189-236C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS573074" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "XR_001751156.2:n.1566C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598154" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "XR_001751157.2:n.1566C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598155" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "XR_001751159.2:n.1566C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598156" }, { "coordinates": [ { "allele": "T", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "NM_014994.3:c.1300C>T" ], "proteinEffect": { "hgvs": "NP_055809.2:p.Arg434Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS668589", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000457542.7:c.1300C>T" }, "RefSeq": { "hgvs": "NM_014994.3:c.1300C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000397570.2:p.Arg434Ter" }, "RefSeq": { "hgvs": "NP_055809.2:p.Arg434Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "NM_001128608.2:c.1318C>T" ], "proteinEffect": { "hgvs": "NP_001122080.1:p.Arg440Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676995" }, { "@id": "http://reg.genome.network/allele/PA2826487649", "coordinates": [ { "allele": "T", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "NM_001265611.2:c.1300C>T" ], "proteinEffect": { "hgvs": "NP_001252540.1:p.Arg434Ter", "hgvsWellDefined": "NP_001252540.1:p.Arg434_Leu1231delinsAsnIleLeuSerSerAspLeuIleLysIleIleTyrValAspGlyAsnThrGlnAlaLeuLeuAspThrGluLeuProGlyGlyAspLysAlaAspAlaSerLeuLeuAspProArgValGlyIleArgSerValCysValSerProAsnGlyGlnHisLeuAlaSerGlyAspArgMetGlyThrLeuArgValHisGluLeuGlnSerLeuSerGluMetLeuLysValGluAlaHisAspSerGluIleLeuCysLeuGluTyrSerLysProAspThrGlyLeuLysLeuLeuAlaSerAlaSerArgAspArgLeuIleHisValLeuAspAlaGlyArgGluTyrSerLeuGlnGlnThrLeuAspGluHisSerSerSerIleThrAlaValLysPheAlaAlaSerAspGlyGlnValArgMetIleSerCysGlyAlaAspLysSerIleTyrPheArgThrAlaGlnLysSerGlyAspGlyValGlnPheThrArgThrHisHisValValArgLysThrThrLeuTyrAspMetAspValGluProSerTrpLysTyrThrAlaIleGlyCysGlnAspArgAsnIleArgIlePheAsnIleSerSerGlyLysGlnLysLysLeuPheLysGlySerGlnGlyGluAspGlyThrLeuIleLysValGlnThrAspProSerGlyIleTyrIleAlaThrSerCysSerAspLysAsnLeuSerIlePheAspPheSerSerGlyGluCysValAlaThrMetPheGlyHisSerGluIleValThrGlyMetLysPheSerAsnAspCysLysHisLeuIleSerValSerGlyAspSerCysIlePheValTrpArgLeuSerSerGluMetThrIleSerMetArgGlnArgLeuAlaGluLeuArgGlnArgGlnArgGlyGlyLysGlnGlnGlyProSerSerProGlnArgAlaSerGlyProAsnArgHisGlnAlaProSerMetLeuSerProGlyProAlaLeuSerSerAspSerAspLysGluGlyGluAspGluGlyThrGluGluGluLeuProAlaLeuProValLeuAlaLysSerThrLysLysAlaLeuAlaSerValProSerProAlaLeuProArgSerLeuSerHisTrpGluMetSerArgAlaGlnGluSerValGlyPheLeuAspProAlaProAlaAlaAsnProGlyProArgArgArgGlyArgTrpValGlnProGlyValGluLeuSerValArgSerMetLeuAspLeuArgGlnLeuGluThrLeuAlaProSerLeuGlnAspProSerGlnAspSerLeuAlaIleIleProSerGlyProArgLysHisGlyGlnGluAlaLeuGluThrSerLeuThrSerGlnAsnGluLysProProArgProGlnAlaSerGlnProCysSerTyrProHisIleIleArgLeuLeuSerGlnGluGluGlyValPheAlaGlnAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680925" }, { "coordinates": [ { "allele": "T", "end": 1346, "referenceAllele": "C", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "NR_049761.2:n.1346C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702579" }, { "coordinates": [ { "allele": "T", "end": 1314, "endIntronDirection": "-", "endIntronOffset": 235, "referenceAllele": "C", "start": 1314, "startIntronDirection": "-", "startIntronOffset": 236 } ], "gene": "http://reg.genome.network/gene/GN029536", "geneNCBI_id": 23005, "geneSymbol": "MAPKBP1", "hgvs": [ "NR_049762.2:n.1315-236C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702580" } ], "type": "nucleotide" }