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"NP_001374069.1:p.Lys5_Thr276delinsLeuLeuGlyAlaLeuLeuAlaLeuAlaAlaLeuLeuGlnGlyAlaValSerLeuLysIleAlaAlaPheAsnIleGlnThrPheGlyGluThrLysMetSerAsnAlaThrLeuValSerTyrIleValGlnIleLeuSerArgTyrAspIleAlaLeuValGlnGluValArgAspSerHisLeuThrAlaValGlyLysLeuLeuAspAsnLeuAsnGlnAspAlaProAspThrTyrHisTyrValValSerGluProLeuGlyArgAsnSerTyrLysGluArgTyrLeuPheValTyrArgProAspGlnValSerAlaValAspSerTyrTyrTyrAspAspGlyCysGluProCysGlyAsnAspThrPheAsnArgGluProAlaIleValArgPhePheSerArgPheThrGluValArgGluPheAlaIleValProLeuHisAlaAlaProGlyAspAlaValAlaGluIleAspAlaLeuTyrAspValTyrLeuAspValGlnGluLysTrpGlyLeuGluAspValMetLeuMetGlyAspPheAsnAlaGlyCysSerTyrValArgProSerGlnTrpSerSerIleArgLeuTrpThrSerProThrPheGlnTrpLeuIleProAspSerAlaAspThrThrAlaThrProThrHisCysAlaTyrAspArgIleValValAlaGlyMetLeuLeuArgGlyAlaValValProAspSerAlaLeuProPheAsnPheGlnAlaAlaTyrGlyLeuSerAspGlnLeuValCysValLeuProCysThrAlaThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724888" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "A", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN002956", "geneNCBI_id": 1773, "geneSymbol": "DNASE1", "hgvs": [ "NM_001387141.1:c.-106A>T" ], "proteinEffect": { "hgvs": "NP_001374070.1:n.-106A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS724889" }, { "@id": "http://reg.genome.network/allele/PA126921", "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "A", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN002956", "geneNCBI_id": 1773, "geneSymbol": "DNASE1", "hgvs": [ "NM_005223.4:c.13A>T" ], "proteinEffect": { "hgvs": "NP_005214.2:p.Lys5Ter", "hgvsWellDefined": "NP_005214.2:p.Lys5_Lys282delinsLeuLeuGlyAlaLeuLeuAlaLeuAlaAlaLeuLeuGlnGlyAlaValSerLeuLysIleAlaAlaPheAsnIleGlnThrPheGlyGluThrLysMetSerAsnAlaThrLeuValSerTyrIleValGlnIleLeuSerArgTyrAspIleAlaLeuValGlnGluValArgAspSerHisLeuThrAlaValGlyLysLeuLeuAspAsnLeuAsnGlnAspAlaProAspThrTyrHisTyrValValSerGluProLeuGlyArgAsnSerTyrLysGluArgTyrLeuPheValTyrArgProAspGlnValSerAlaValAspSerTyrTyrTyrAspAspGlyCysGluProCysGlyAsnAspThrPheAsnArgGluProAlaIleValArgPhePheSerArgPheThrGluValArgGluPheAlaIleValProLeuHisAlaAlaProGlyAspAlaValAlaGluIleAspAlaLeuTyrAspValTyrLeuAspValGlnGluLysTrpGlyLeuGluAspValMetLeuMetGlyAspPheAsnAlaGlyCysSerTyrValArgProSerGlnTrpSerSerIleArgLeuTrpThrSerProThrPheGlnTrpLeuIleProAspSerAlaAspThrThrAlaThrProThrHisCysAlaTyrAspArgIleValValAlaGlyMetLeuLeuArgGlyAlaValValProAspSerAlaLeuProPheAsnPheGlnAlaAlaTyrGlyLeuSerAspGlnLeuAlaGlnAlaIleSerAspHisTyrProValGluValMetLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727602", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000246949.10:c.13A>T" }, "RefSeq": { "hgvs": "NM_005223.4:c.13A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000246949.5:p.Lys5Ter" }, "RefSeq": { "hgvs": "NP_005214.2:p.Lys5Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "A", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN002956", "geneNCBI_id": 1773, "geneSymbol": "DNASE1", "hgvs": [ "NR_170561.1:n.368A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS732654" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "A", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN002956", "geneNCBI_id": 1773, "geneSymbol": "DNASE1", "hgvs": [ "NR_170562.1:n.368A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS732655" } ], "type": "nucleotide" }