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"XP_011521406.1:p.Ser250_Asp353delinsAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546893" }, { "@id": "http://reg.genome.network/allele/PA645497158", "coordinates": [ { "allele": "A", "end": 874, "referenceAllele": "C", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_016373.4:c.749C>A" ], "proteinEffect": { "hgvs": "NP_057457.1:p.Ser250Ter", "hgvsWellDefined": "NP_057457.1:p.Ser250_Gly414delinsAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetGlnGlnGlyAlaAlaThrThrValTyrCysAlaAlaValProGluLeuGluGlyLeuGlyGlyMetTyrPheAsnAsnCysCysArgCysMetProSerProGluAlaGlnSerGluGluThrAlaArgThrLeuTrpAlaLeuSerGluArgLeuIleGlnGluArgLeuGlySerGlnSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669107", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000566780.6:c.749C>A" }, "RefSeq": { "hgvs": "NM_016373.4:c.749C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000457230.1:p.Ser250Ter" }, "RefSeq": { "hgvs": "NP_057457.1:p.Ser250Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826816099", "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "C", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN012799", "geneNCBI_id": 51741, "geneSymbol": "WWOX", "hgvs": [ "NM_001291997.2:c.410C>A" ], "proteinEffect": { "hgvs": "NP_001278926.1:p.Ser137Ter", "hgvsWellDefined": "NP_001278926.1:p.Ser137_Gly301delinsAlaProAlaArgValIleValValSerSerGluSerHisArgPheThrAspIleAsnAspSerLeuGlyLysLeuAspPheSerArgLeuSerProThrLysAsnAspTyrTrpAlaMetLeuAlaTyrAsnArgSerLysLeuCysAsnIleLeuPheSerAsnGluLeuHisArgArgLeuSerProArgGlyValThrSerAsnAlaValHisProGlyAsnMetMetTyrSerAsnIleHisArgSerTrpTrpValTyrThrLeuLeuPheThrLeuAlaArgProPheThrLysSerMetGlnGlnGlyAlaAlaThrThrValTyrCysAlaAlaValProGluLeuGluGlyLeuGlyGlyMetTyrPheAsnAsnCysCysArgCysMetProSerProGluAlaGlnSerGluGluThrAlaArgThrLeuTrpAlaLeuSerGluArgLeuIleGlnGluArgLeuGlySerGlnSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682940" } ], "type": "nucleotide" }