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"NP_001184033.1:p.Ser3695_Asn3972delinsLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679350", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534358.8:c.11084C>G" }, "RefSeq": { "hgvs": "NM_001197104.2:c.11084C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000436786.2:p.Ser3695Ter" }, "RefSeq": { "hgvs": "NP_001184033.1:p.Ser3695Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829634851", "coordinates": [ { "allele": "G", "end": 11096, "referenceAllele": "C", "start": 11095 } ], "gene": "http://reg.genome.network/gene/GN007132", "geneNCBI_id": 4297, "geneSymbol": "KMT2A", "hgvs": [ "NM_005933.4:c.11075C>G" ], "proteinEffect": { "hgvs": "NP_005924.2:p.Ser3692Ter", "hgvsWellDefined": "NP_005924.2:p.Ser3692_Asn3969delinsLeuThrAspLysValGlnGluAlaArgSerAsnAlaArgLeuLysGlnLeuSerPheAlaGlyValAsnGlyLeuArgMetLeuGlyIleLeuHisAspAlaValValPheLeuIleGluGlnLeuSerGlyAlaLysHisCysArgAsnTyrLysPheArgPheHisLysProGluGluAlaAsnGluProProLeuAsnProHisGlySerAlaArgAlaGluValHisLeuArgLysSerAlaPheAspMetPheAsnPheLeuAlaSerLysHisArgGlnProProGluTyrAsnProAsnAspGluGluGluGluGluValGlnLeuLysSerAlaArgArgAlaThrSerMetAspLeuProMetProMetArgPheArgHisLeuLysLysThrSerLysGluAlaValGlyValTyrArgSerProIleHisGlyArgGlyLeuPheCysLysArgAsnIleAspAlaGlyGluMetValIleGluTyrAlaGlyAsnValIleArgSerIleGlnThrAspLysArgGluLysTyrTyrAspSerLysGlyIleGlyCysTyrMetPheArgIleAspAspSerGluValValAspAlaThrMetHisGlyAsnAlaAlaArgPheIleAsnHisSerCysGluProAsnCysTyrSerArgValIleAsnIleAspGlyGlnLysHisIleValIlePheAlaMetArgLysIleTyrArgGlyGluGluLeuThrTyrAspTyrLysPheProIleGluAspAlaSerAsnLysLeuProCysAsnCysGlyAlaLysLysCysArgLysPheLeuAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696566" } ], "type": "nucleotide" }