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"NP_001280654.1:p.Arg616_Lys867delinsAspGluAspAspIleAsnAspValThrSerMetAlaGlyValAsnLeuAsnGluGluAsnAlaCysIleLeuAlaThrAsnSerGluLeuValGlyThrLeuIleGlnSerCysLysAspGluProPheLeuPheIleGlyAlaLeuGlnLysArgIleLeuAspIleGlyLysLysHisAspIleThrGluLeuAsnSerAspAlaValAsnLeuIleSerGlnAlaThrGlnGluArgLeuArgGlyLeuLeuGluLysLeuThrAlaIleAlaGlnHisArgMetThrThrTyrLysAlaSerGluAsnTyrIleLeuCysSerAspThrArgSerGlnLeuLysPheLeuGluLysLeuAspGlnLeuGluLysGlnArgLysAspLeuGluGluArgGluMetLeuLeuLysAlaAlaLysSerArgSerAsnLysGluAspProGluGlnLeuArgLeuLysGlnLysAlaLysGluLeuGlnGlnLeuGluLeuAlaGlnIleGlnHisArgAspAlaAsnLeuThrAlaLeuAlaAlaIleGlyProArgLysLysArgProLeuGluSerGlyIleGluGlyLeuLysAspAsnLeuLeuAlaSerGlyThrSerSerLeuThrAlaThrLysGlnLeuHisArgProArgIleThrArgIleCysLeuArgAspLeuIlePheCysMetGluGlnGluArgGluMetLysTyrSerArgAlaLeuTyrLeuAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683006" }, { "@id": "http://reg.genome.network/allele/PA163112", "coordinates": [ { "allele": "T", "end": 2320, "referenceAllele": "C", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN011538", "geneNCBI_id": 6875, "geneSymbol": "TAF4B", "hgvs": [ "NM_005640.3:c.1831C>T" ], "proteinEffect": { "hgvs": "NP_005631.1:p.Arg611Ter", "hgvsWellDefined": "NP_005631.1:p.Arg611_Lys862delinsAspGluAspAspIleAsnAspValThrSerMetAlaGlyValAsnLeuAsnGluGluAsnAlaCysIleLeuAlaThrAsnSerGluLeuValGlyThrLeuIleGlnSerCysLysAspGluProPheLeuPheIleGlyAlaLeuGlnLysArgIleLeuAspIleGlyLysLysHisAspIleThrGluLeuAsnSerAspAlaValAsnLeuIleSerGlnAlaThrGlnGluArgLeuArgGlyLeuLeuGluLysLeuThrAlaIleAlaGlnHisArgMetThrThrTyrLysAlaSerGluAsnTyrIleLeuCysSerAspThrArgSerGlnLeuLysPheLeuGluLysLeuAspGlnLeuGluLysGlnArgLysAspLeuGluGluArgGluMetLeuLeuLysAlaAlaLysSerArgSerAsnLysGluAspProGluGlnLeuArgLeuLysGlnLysAlaLysGluLeuGlnGlnLeuGluLeuAlaGlnIleGlnHisArgAspAlaAsnLeuThrAlaLeuAlaAlaIleGlyProArgLysLysArgProLeuGluSerGlyIleGluGlyLeuLysAspAsnLeuLeuAlaSerGlyThrSerSerLeuThrAlaThrLysGlnLeuHisArgProArgIleThrArgIleCysLeuArgAspLeuIlePheCysMetGluGlnGluArgGluMetLysTyrSerArgAlaLeuTyrLeuAlaLeuLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696479", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269142.10:c.1831C>T" }, "RefSeq": { "hgvs": "NM_005640.3:c.1831C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269142.6:p.Arg611Ter" }, "RefSeq": { "hgvs": "NP_005631.1:p.Arg611Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2320, "referenceAllele": "C", "start": 2319 } ], "gene": "http://reg.genome.network/gene/GN011538", "geneNCBI_id": 6875, "geneSymbol": "TAF4B", "hgvs": [ "NR_121653.2:n.2320C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703210" } ], "type": "nucleotide" }