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"XP_011527113.1:p.[Leu774_Asp778delinsCysGlyArgArg;Gly781_Arg783delinsArgAlaAlaGly;Glu786Arg;Asn788_Thr794delinsThrCysGlyThrAlaThrArgPro;Ile796Pro;Ile798Arg;Ser800_His803delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS549263" }, { "coordinates": [ { "allele": "", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027841.2:c.2347del" ], "proteinEffect": { "hgvs": "XP_016883330.1:p.Leu783CysfsTer?", "hgvsWellDefined": "XP_016883330.1:p.[Leu783_Asp787delinsCysGlyArgArg;Gly790_Arg792delinsArgAlaAlaGly;Glu795Arg;Asn797_Thr803delinsThrCysGlyThrAlaThrArgPro;Ile805Pro;Ile807Arg;Ser809_His812delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577727" }, { "coordinates": [ { "allele": "", "end": 2442, "referenceAllele": "C", "start": 2441 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027842.2:c.2284del" ], "proteinEffect": { "hgvs": "XP_016883331.1:p.Leu762CysfsTer?", "hgvsWellDefined": "XP_016883331.1:p.[Leu762_Asp766delinsCysGlyArgArg;Gly769_Arg771delinsArgAlaAlaGly;Glu774Arg;Asn776_Thr782delinsThrCysGlyThrAlaThrArgPro;Ile784Pro;Ile786Arg;Ser788_His791delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577728" }, { "coordinates": [ { "allele": "", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027843.1:c.2281del" ], "proteinEffect": { "hgvs": "XP_016883332.1:p.Leu761CysfsTer?", "hgvsWellDefined": "XP_016883332.1:p.[Leu761_Asp765delinsCysGlyArgArg;Gly768_Arg770delinsArgAlaAlaGly;Glu773Arg;Asn775_Thr781delinsThrCysGlyThrAlaThrArgPro;Ile783Pro;Ile785Arg;Ser787_His790delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577729" }, { "coordinates": [ { 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"XP_016883334.1:p.[Leu438_Asp442delinsCysGlyArgArg;Gly445_Arg447delinsArgAlaAlaGly;Glu450Arg;Asn452_Thr458delinsThrCysGlyThrAlaThrArgPro;Ile460Pro;Ile462Arg;Ser464_His467delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577731" }, { "coordinates": [ { "allele": "", "end": 2404, "referenceAllele": "C", "start": 2403 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.6:c.2212del" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Leu738CysfsTer?", "hgvsWellDefined": "NP_004509.2:p.[Leu738_Asp742delinsCysGlyArgArg;Gly745_Arg747delinsArgAlaAlaGly;Glu750Arg;Asn752_Thr758delinsThrCysGlyThrAlaThrArgPro;Ile760Pro;Ile762Arg;Ser764_His767delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS696171" }, { "coordinates": [ { "allele": "", "end": 2434, "referenceAllele": "C", "start": 2433 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.3:c.2242del" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Leu748CysfsTer?", "hgvsWellDefined": "NP_742104.1:p.[Leu748_Asp752delinsCysGlyArgArg;Gly755_Arg757delinsArgAlaAlaGly;Glu760Arg;Asn762_Thr768delinsThrCysGlyThrAlaThrArgPro;Ile770Pro;Ile772Arg;Ser774_His777delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS700477" }, { "coordinates": [ { "allele": "", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.4:c.2296del" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Leu766CysfsTer?", "hgvsWellDefined": "NP_742105.1:p.[Leu766_Asp770delinsCysGlyArgArg;Gly773_Arg775delinsArgAlaAlaGly;Glu778Arg;Asn780_Thr786delinsThrCysGlyThrAlaThrArgPro;Ile788Pro;Ile790Arg;Ser792_His795delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS700478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.2296del" }, "RefSeq": { "hgvs": "NM_172107.4:c.2296del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Leu766CysfsTer?" }, "RefSeq": { "hgvs": "NP_742105.1:p.Leu766CysfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 2395, "referenceAllele": "C", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.5:c.2203del" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Leu735CysfsTer?", "hgvsWellDefined": "NP_742106.1:p.[Leu735_Asp739delinsCysGlyArgArg;Gly742_Arg744delinsArgAlaAlaGly;Glu747Arg;Asn749_Thr755delinsThrCysGlyThrAlaThrArgPro;Ile757Pro;Ile759Arg;Ser761_His764delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS700479" }, { "coordinates": [ { "allele": "", "end": 2542, "referenceAllele": "C", "start": 2541 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_001382235.1:c.2350del" ], "proteinEffect": { "hgvs": "NP_001369164.1:p.Leu784CysfsTer?", "hgvsWellDefined": "NP_001369164.1:p.[Leu784_Asp788delinsCysGlyArgArg;Gly791_Arg793delinsArgAlaAlaGly;Glu796Arg;Asn798_Thr804delinsThrCysGlyThrAlaThrArgPro;Ile806Pro;Ile808Arg;Ser810_His813delinsTrpThrThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS722196" } ], "type": "nucleotide" }