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"NP_001448.2:p.Tyr2343_Pro2602delinsAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026839" }, { "coordinates": [ { "allele": "G", "end": 7234, "referenceAllele": "T", "start": 7233 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264977.1:c.7089T>G" ], "proteinEffect": { "hgvs": "XP_005265034.1:p.Tyr2363Ter", "hgvsWellDefined": "XP_005265034.1:p.Tyr2363_Pro2622delinsAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064454" }, { "coordinates": [ { "allele": "G", "end": 7195, "referenceAllele": "T", "start": 7194 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264978.1:c.7050T>G" ], "proteinEffect": { "hgvs": "XP_005265035.1:p.Tyr2350Ter", "hgvsWellDefined": "XP_005265035.1:p.Tyr2350_Pro2609delinsAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064455" }, { "coordinates": [ { "allele": "C", "end": 3094, "referenceAllele": "A", "start": 3093 } ], "gene": "http://reg.genome.network/gene/GN040239", "geneNCBI_id": 105377105, "geneSymbol": "FLNB-AS1", "hgvs": [ "XR_940875.1:n.3094A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS135571" }, { "coordinates": [ { "allele": "C", "end": 3094, "referenceAllele": "A", "start": 3093 } ], "gene": "http://reg.genome.network/gene/GN040239", "geneNCBI_id": 105377105, "geneSymbol": "FLNB-AS1", "hgvs": [ "NR_135534.1:n.3094A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS528293" }, { "coordinates": [ { "allele": "G", "end": 7195, "referenceAllele": "T", "start": 7194 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XM_005264978.2:c.7050T>G" ], "proteinEffect": { "hgvs": "XP_005265035.1:p.Tyr2350Ter", "hgvsWellDefined": "XP_005265035.1:p.Tyr2350_Pro2609delinsAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535977" }, { "coordinates": [ { "allele": "G", "end": 7337, "referenceAllele": "T", "start": 7336 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "XR_001740065.1:n.7337T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS590320" }, { "@id": "http://reg.genome.network/allele/PA915988318", "coordinates": [ { "allele": "G", "end": 7265, "referenceAllele": "T", "start": 7264 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164317.2:c.7122T>G" ], "proteinEffect": { "hgvs": "NP_001157789.1:p.Tyr2374Ter", "hgvsWellDefined": "NP_001157789.1:p.Tyr2374_Pro2633delinsAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678307" }, { "@id": "http://reg.genome.network/allele/PA2825975776", "coordinates": [ { "allele": "G", "end": 7139, "referenceAllele": "T", "start": 7138 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164318.2:c.6996T>G" ], "proteinEffect": { "hgvs": "NP_001157790.1:p.Tyr2332Ter", "hgvsWellDefined": "NP_001157790.1:p.Tyr2332_Pro2591delinsAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678308" }, { "@id": "http://reg.genome.network/allele/PA2825977259", "coordinates": [ { "allele": "G", "end": 7100, "referenceAllele": "T", "start": 7099 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001164319.2:c.6957T>G" ], "proteinEffect": { "hgvs": "NP_001157791.1:p.Tyr2319Ter", "hgvsWellDefined": "NP_001157791.1:p.Tyr2319_Pro2578delinsAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678309" }, { "@id": "http://reg.genome.network/allele/PA341868", "coordinates": [ { "allele": "G", "end": 7172, "referenceAllele": "T", "start": 7171 } ], "gene": "http://reg.genome.network/gene/GN003755", "geneNCBI_id": 2317, "geneSymbol": "FLNB", "hgvs": [ "NM_001457.4:c.7029T>G" ], "proteinEffect": { "hgvs": "NP_001448.2:p.Tyr2343Ter", "hgvsWellDefined": "NP_001448.2:p.Tyr2343_Pro2602delinsAlaValArgPheIleProHisGluAsnGlyValHisThrIleAspValLysPheAsnGlySerHisValValGlySerProPheLysValArgValGlyGluProGlyGlnAlaGlyAsnProAlaLeuValSerAlaTyrGlyThrGlyLeuGluGlyGlyThrThrGlyIleGlnSerGluPhePheIleAsnThrThrArgAlaGlyProGlyThrLeuSerValThrIleGluGlyProSerLysValLysMetAspCysGlnGluThrProGluGlyTyrLysValMetTyrThrProMetAlaProGlyAsnTyrLeuIleSerValLysTyrGlyGlyProAsnHisIleValGlySerProPheLysAlaLysValThrGlyGlnArgLeuValSerProGlySerAlaAsnGluThrSerSerIleLeuValGluSerValThrArgSerSerThrGluThrCysTyrSerAlaIleProLysAlaSerSerAspAlaSerLysValThrSerLysGlyAlaGlyLeuSerLysAlaPheValGlyGlnLysSerSerPheLeuValAspCysSerLysAlaGlySerAsnMetLeuLeuIleGlyValHisGlyProThrThrProCysGluGluValSerMetLysHisValGlyAsnGlnGlnTyrAsnValThrTyrValValLysGluArgGlyAspTyrValLeuAlaValLysTrpGlyGluGluHisIleProGlySerProPheHisValThrValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695301", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295956.9:c.7029T>G" }, "RefSeq": { "hgvs": "NM_001457.4:c.7029T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295956.5:p.Tyr2343Ter" }, "RefSeq": { "hgvs": "NP_001448.2:p.Tyr2343Ter" } } } } ], "type": "nucleotide" }