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"XP_005259674.1:p.Lys122_Lys600delinsGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535037" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "A", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_011528209.2:c.142A>T" ], "proteinEffect": { "hgvs": "XP_011526511.1:p.Lys48Ter", "hgvsWellDefined": "XP_011526511.1:p.Lys48_Lys526delinsGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyProArgArgGlyGlyGlnSerGlnTrpThrAlaProGlyProProGlnGlyArgValTyrGluArgHisArgGlyGlyAlaAlaGluHisGlnIleGlnGlyGlyGlyProGlyProGlnProCysProGlnGlyLeuLeuArgGlnGlnGlnAspProProAlaValGlyLeuGlnAlaAlaValArgLeuAlaAlaCysSerProCysProGlyAlaProProGlyAlaArgAlaArgProSerValPheLeuProValProProAlaLeuProGluArgTrpProProCysPheCysAlaAspHisAlaProGlyProProGluArgProAlaGlyProGlyArgGlyThrAlaGlyThrGlyArgSerProProProSerAlaAlaArgGlnCysThrArgLeuValAspPheAlaAlaProGlyGlyAlaPheProGlyGlyArgGlyArgArgGluAlaAlaSerMetHisPheMetTrpArgLeuLeuAlaProProValAlaSerCysSerAlaGlyArgProAlaProSerGlyGlyProAlaAlaAspGlnLeuAlaGlyValGluThrArgLeuLeuThrProProCysMetGlnArgHisLeuGluAlaAlaArgProLeuTrpPhePheValTrpLeuValProPheSerPhePheLeuPhePhePheLysLysLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "A", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.989A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "A", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.989A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "A", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.989A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "coordinates": [ { "allele": "T", "end": 1500, "referenceAllele": "A", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.364A>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Lys122Ter", "hgvsWellDefined": "NP_000446.1:p.Lys122_Gln433delinsGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.364A>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.364A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Lys122Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Lys122Ter" } } } } ], "type": "nucleotide" }