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"XP_016884819.1:p.Lys1450_Ile2160delinsLeuGlnAspValSerMetLysPheArgLeuPheGlnLysProAlaAsnPheGluGlnArgLeuGlnGluSerLysMetIleLeuAspGluValLysMetHisLeuProAlaLeuGluThrLysSerValGluGlnGluValValGlnSerGlnLeuAsnHisCysValAsnLeuTyrLysSerLeuSerGluValLysSerGluValGluMetValIleLysThrGlyArgGlnIleValGlnLysLysGlnThrGluAsnProLysGluLeuAspGluArgValThrAlaLeuLysLeuHisTyrAsnGluLeuGlyAlaLysValThrGluArgLysGlnGlnLeuGluLysCysLeuLysLeuSerArgLysMetArgLysGluMetAsnValLeuThrGluTrpLeuAlaAlaThrAspMetGluLeuThrLysArgSerAlaValGluGlyMetProSerAsnLeuAspSerGluValAlaTrpGlyLysAlaThrGlnLysGluIleGluLysGlnLysValHisLeuLysSerIleThrGluValGlyGluAlaLeuLysThrValLeuGlyLysLysGluThrLeuValGluAspLysLeuSerLeuLeuAsnSerAsnTrpIleAlaValThrSerArgAlaGluGluTrpLeuAsnLeuLeuLeuGluTyrGlnLysHisMetGluThrPheAspGlnAsnValAspHisIleThrLysTrpIleIleGlnAlaAspThrLeuLeuAspGluSerGluLysLysLysProGlnGlnLysGluAspValLeuLysArgLeuLysAlaGluLeuAsnAspIleArgProLysValAspSerThrArgAspGlnAlaAlaAsnLeuMetAlaAsnArgGlyAspHisCysArgLysLeuValGluProGlnIleSerGluLeuAsnHisArgPheAlaAlaIleSerHisArgIleLysThrGlyLysAlaSerIleProLeuLysGluLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "coordinates": [ { "allele": "T", "end": 4444, "referenceAllele": "A", "start": 4443 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.4321A>T" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Lys1441Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "coordinates": [ { "allele": "T", "end": 4582, "referenceAllele": "A", "start": 4581 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.4345A>T" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Lys1449Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.4345A>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.4345A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Lys1449Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Lys1449Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "A", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.322A>T" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Lys108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "coordinates": [ { "allele": "T", "end": 484, "referenceAllele": "A", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.313A>T" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Lys105Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" } ], "type": "nucleotide" }