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"XP_016884819.1:p.Glu1540_Ile2160delinsLeuAspGluArgValThrAlaLeuLysLeuHisTyrAsnGluLeuGlyAlaLysValThrGluArgLysGlnGlnLeuGluLysCysLeuLysLeuSerArgLysMetArgLysGluMetAsnValLeuThrGluTrpLeuAlaAlaThrAspMetGluLeuThrLysArgSerAlaValGluGlyMetProSerAsnLeuAspSerGluValAlaTrpGlyLysAlaThrGlnLysGluIleGluLysGlnLysValHisLeuLysSerIleThrGluValGlyGluAlaLeuLysThrValLeuGlyLysLysGluThrLeuValGluAspLysLeuSerLeuLeuAsnSerAsnTrpIleAlaValThrSerArgAlaGluGluTrpLeuAsnLeuLeuLeuGluTyrGlnLysHisMetGluThrPheAspGlnAsnValAspHisIleThrLysTrpIleIleGlnAlaAspThrLeuLeuAspGluSerGluLysLysLysProGlnGlnLysGluAspValLeuLysArgLeuLysAlaGluLeuAsnAspIleArgProLysValAspSerThrArgAspGlnAlaAlaAsnLeuMetAlaAsnArgGlyAspHisCysArgLysLeuValGluProGlnIleSerGluLeuAsnHisArgPheAlaAlaIleSerHisArgIleLysThrGlyLysAlaSerIleProLeuLysGluLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578894" }, { "coordinates": [ { "allele": "T", "end": 4717, "referenceAllele": "G", "start": 4716 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_000109.4:c.4594G>T" ], "proteinEffect": { "hgvs": "NP_000100.3:p.Glu1532Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674704" }, { "coordinates": [ { "allele": "T", "end": 4855, "referenceAllele": "G", "start": 4854 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004006.3:c.4618G>T" ], "proteinEffect": { "hgvs": "NP_003997.2:p.Glu1540Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357033.9:c.4618G>T" }, "RefSeq": { "hgvs": "NM_004006.3:c.4618G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000354923.3:p.Glu1540Ter" }, "RefSeq": { "hgvs": "NP_003997.2:p.Glu1540Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004011.4:c.595G>T" ], "proteinEffect": { "hgvs": "NP_004002.3:p.Glu199Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696015" }, { "coordinates": [ { "allele": "T", "end": 757, "referenceAllele": "G", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004012.4:c.586G>T" ], "proteinEffect": { "hgvs": "NP_004003.2:p.Glu196Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696016" } ], "type": "nucleotide" }