{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3038477078", "communityStandardTitle": [ "NM_002880.4(RAF1):c.700_701insAGTAT (p.Thr234LysfsTer?)" ], "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "ATACT", "end": 12604269, "referenceAllele": "", "start": 12604269 } ], "hgvs": [ "NC_000003.12:g.12604269_12604270insATACT", "CM000665.2:g.12604269_12604270insATACT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "ATACT", "end": 12645768, "referenceAllele": "", "start": 12645768 } ], "hgvs": [ "NC_000003.11:g.12645768_12645769insATACT", "CM000665.1:g.12645768_12645769insATACT" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "ATACT", "end": 12620768, "referenceAllele": "", "start": 12620768 } ], "hgvs": [ "NC_000003.10:g.12620768_12620769insATACT" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "AGTAT", "end": 64910, "referenceAllele": "", "start": 64910 } ], "hgvs": [ "NG_007467.1:g.64910_64911insAGTAT", "LRG_413:g.64910_64911insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS000592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "AGTAT", "end": 667, "referenceAllele": "", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.2:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000391265.2:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS824657" }, { "coordinates": [ { "allele": "AGTAT", "end": 900, "referenceAllele": "", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.6:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS824726" }, { "coordinates": [ { "allele": "AGTAT", "end": 20, "referenceAllele": "", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.3:c.20_21insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS824839" }, { "coordinates": [ { "allele": "AGTAT", "end": 291, "referenceAllele": "", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.6:n.291_292insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS825161" }, { "coordinates": [ { "allele": "AGTAT", "end": 1077, "referenceAllele": "", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.2:n.1077_1078insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS825419" }, { "coordinates": [ { "allele": "AGTAT", "end": 1002, "referenceAllele": "", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000684903.1:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000508612.1:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS829785" }, { "coordinates": [ { "allele": "AGTAT", "end": 936, "referenceAllele": "", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685348.1:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000510285.1:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS830023" }, { "coordinates": [ { "allele": "AGTAT", "end": 1025, "referenceAllele": "", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685437.1:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000508794.1:p.Thr201LysfsTer?", "hgvsWellDefined": "ENSP00000508794.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830075" }, { "coordinates": [ { "allele": "AGTAT", "end": 2405, "referenceAllele": "", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685653.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509968.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000509968.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830186" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685738.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000510156.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000510156.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830228" }, { "coordinates": [ { "allele": "AGTAT", "end": 829, "referenceAllele": "", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685959.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000510452.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000510452.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830326" }, { "coordinates": [ { "allele": "AGTAT", "end": 1300, "referenceAllele": "", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686409.1:n.1300_1301insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS830557" }, { "coordinates": [ { "allele": "AGTAT", "end": 1063, "referenceAllele": "", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686455.1:n.1063_1064insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS830585" }, { "coordinates": [ { "allele": "AGTAT", "end": 1071, "referenceAllele": "", "start": 1071 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686479.1:n.1071_1072insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS830600" }, { "coordinates": [ { "allele": "AGTAT", "end": 1001, "referenceAllele": "", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686762.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509767.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000509767.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830729" }, { "coordinates": [ { "allele": "AGTAT", "end": 936, "referenceAllele": "", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687257.1:n.936_937insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS831004" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687326.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509665.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000509665.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831034" }, { "coordinates": [ { "allele": "AGTAT", "end": 20, "referenceAllele": "", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687486.1:c.20_21insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS831111" }, { "coordinates": [ { "allele": "AGTAT", "end": 818, "referenceAllele": "", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687505.1:n.818_819insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS831119" }, { "coordinates": [ { "allele": "AGTAT", "end": 926, "referenceAllele": "", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687923.1:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000510255.1:p.Thr201LysfsTer?", "hgvsWellDefined": "ENSP00000510255.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831334" }, { "coordinates": [ { "allele": "AGTAT", "end": 1077, "referenceAllele": "", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687940.1:n.1077_1078insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS831344" }, { "coordinates": [ { "allele": "AGTAT", "end": 1308, "referenceAllele": "", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688269.1:n.1308_1309insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS831533" }, { "coordinates": [ { "allele": "AGTAT", "end": 20, "referenceAllele": "", "start": 20 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688326.1:c.20_21insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS831566" }, { "coordinates": [ { "allele": "AGTAT", "end": 1026, "referenceAllele": "", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688444.1:n.1026_1027insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS831632" }, { "coordinates": [ { "allele": "AGTAT", "end": 1002, "referenceAllele": "", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688543.1:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509612.1:p.Thr201LysfsTer?", "hgvsWellDefined": "ENSP00000509612.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831682" }, { "coordinates": [ { "allele": "AGTAT", "end": 791, "referenceAllele": "", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688625.1:c.*278_*279insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509522.1:n.*278_*279insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS831731" }, { "coordinates": [ { "allele": "AGTAT", "end": 931, "referenceAllele": "", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688803.1:n.931_932insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS831828" }, { "coordinates": [ { "allele": "AGTAT", "end": 914, "referenceAllele": "", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689033.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000508983.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000508983.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831951" }, { "coordinates": [ { "allele": "AGTAT", "end": 760, "referenceAllele": "", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689097.1:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509756.1:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS831988" }, { "coordinates": [ { "allele": "AGTAT", "end": 1034, "referenceAllele": "", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689389.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000510213.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000510213.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832143" }, { "coordinates": [ { "allele": "AGTAT", "end": 923, "referenceAllele": "", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689418.1:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509467.1:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS832158" }, { "coordinates": [ { "allele": "AGTAT", "end": 720, "referenceAllele": "", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689481.1:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000510248.1:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS832193" }, { "coordinates": [ { "allele": "AGTAT", "end": 850, "referenceAllele": "", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689540.1:n.850_851insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS832229" }, { "coordinates": [ { "allele": "AGTAT", "end": 1027, "referenceAllele": "", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689876.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000508535.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000508535.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832419" }, { "coordinates": [ { "allele": "AGTAT", "end": 1044, "referenceAllele": "", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689914.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509847.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000509847.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832441" }, { "coordinates": [ { "allele": "AGTAT", "end": 932, "referenceAllele": "", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690397.1:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000508730.1:p.Thr201LysfsTer?", "hgvsWellDefined": "ENSP00000508730.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832679" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690460.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509106.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000509106.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832713" }, { "coordinates": [ { "allele": "AGTAT", "end": 1003, "referenceAllele": "", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690625.1:n.1003_1004insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS832797" }, { "coordinates": [ { "allele": "AGTAT", "end": 261, "endIntronDirection": "-", "endIntronOffset": 3854, "referenceAllele": "", "start": 261, "startIntronDirection": "-", "startIntronOffset": 3854 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691268.1:c.262-3855_262-3854insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS833133" }, { "coordinates": [ { "allele": "AGTAT", "end": 1076, "referenceAllele": "", "start": 1076 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691396.1:c.*493_*494insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000510712.1:n.*493_*494insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS833193" }, { "coordinates": [ { "allele": "AGTAT", "end": 1025, "referenceAllele": "", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691724.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509255.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000509255.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833349" }, { "coordinates": [ { "allele": "AGTAT", "end": 827, "referenceAllele": "", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691779.1:c.*278_*279insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000508592.1:n.*278_*279insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS833377" }, { "coordinates": [ { "allele": "AGTAT", "end": 866, "referenceAllele": "", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691899.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000508763.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000508763.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833435" }, { "coordinates": [ { "allele": "AGTAT", "end": 1034, "referenceAllele": "", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692093.1:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509669.1:p.Thr201LysfsTer?", "hgvsWellDefined": "ENSP00000509669.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833541" }, { "coordinates": [ { "allele": "AGTAT", "end": 1073, "referenceAllele": "", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692311.1:n.1073_1074insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS833653" }, { "coordinates": [ { "allele": "AGTAT", "end": 1065, "referenceAllele": "", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692558.1:n.1065_1066insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS833776" }, { "coordinates": [ { "allele": "AGTAT", "end": 891, "referenceAllele": "", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692773.1:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509055.1:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS833877" }, { "coordinates": [ { "allele": "AGTAT", "end": 681, "referenceAllele": "", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692830.1:c.*445_*446insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509461.1:n.*445_*446insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS833910" }, { "coordinates": [ { "allele": "AGTAT", "end": 627, "referenceAllele": "", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693069.1:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000510072.1:p.Thr201LysfsTer?", "hgvsWellDefined": "ENSP00000510072.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS834047" }, { "coordinates": [ { "allele": "AGTAT", "end": 776, "referenceAllele": "", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693312.1:c.475_476insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000508686.1:p.Thr159LysfsTer?", "hgvsWellDefined": "ENSP00000508686.1:p.[Thr159_Pro160delinsLysTyr;Ala162_Ser169delinsLeuThrProSerProLeuThrPro;Ser171_Leu176delinsValProHisLeuLysValPro;Gln178Pro;Gln180Gly;Ser182_Val188delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS834179" }, { "coordinates": [ { "allele": "AGTAT", "end": 1009, "referenceAllele": "", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693664.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000509614.1:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000509614.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS834363" }, { "coordinates": [ { "allele": "AGTAT", "end": 687, "referenceAllele": "", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693705.1:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000510697.1:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS834385" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.9:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000251849.4:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS741499", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.700_701insAGTAT" }, "RefSeq": { "hgvs": "NM_002880.4:c.700_701insAGTAT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Thr234LysfsTer?" }, "RefSeq": { "hgvs": "NP_002871.1:p.Thr234LysfsTer?" } } } }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.7:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000401888.2:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS755905" }, { "coordinates": [ { "allele": "AGTAT", "end": 1140, "referenceAllele": "", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.8:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000251849.4:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS249768" }, { "coordinates": [ { "allele": "AGTAT", "end": 827, "referenceAllele": "", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.1:c.*278_*279insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000391265.1:n.*278_*279insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS284305" }, { "coordinates": [ { "allele": "AGTAT", "end": 926, "referenceAllele": "", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.5:c.*377_*378insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*377_*378insAGTAT" }, "referenceSequence": "http://reg.genome.network/refseq/RS287680" }, { "coordinates": [ { "allele": "AGTAT", "end": 337, "referenceAllele": "", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.2:c.337_338insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000398591.2:p.Thr113LysfsTer?", "hgvsWellDefined": "ENSP00000398591.2:p.[Thr113_Pro114delinsLysTyr;Ala116_Ser123delinsLeuThrProSerProLeuThrPro;Ser125_Leu130delinsValProHisLeuLysValPro;Gln132Pro;Gln134Gly;Ser136_Val142delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS292084" }, { "coordinates": [ { "allele": "AGTAT", "end": 1062, "referenceAllele": "", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.6:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Thr234LysfsTer?", "hgvsWellDefined": "ENSP00000401888.2:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS296866" }, { "coordinates": [ { "allele": "AGTAT", "end": 221, "referenceAllele": "", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.1:n.221_222insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS328920" }, { "coordinates": [ { "allele": "AGTAT", "end": 1115, "referenceAllele": "", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.3:c.700_701insAGTAT", "LRG_413t1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Thr234LysfsTer?", "hgvsWellDefined": "NP_002871.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS028166" }, { "coordinates": [ { "allele": "AGTAT", "end": 843, "referenceAllele": "", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265355.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "XP_005265412.1:p.Thr234LysfsTer?", "hgvsWellDefined": "XP_005265412.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS064593" }, { "coordinates": [ { "allele": "AGTAT", "end": 932, "referenceAllele": "", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265357.1:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "XP_005265414.1:p.Thr201LysfsTer?", "hgvsWellDefined": "XP_005265414.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS064594" }, { "coordinates": [ { "allele": "AGTAT", "end": 997, "referenceAllele": "", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265358.3:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "XP_005265415.1:p.Thr153LysfsTer?", "hgvsWellDefined": "XP_005265415.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS064595" }, { "coordinates": [ { "allele": "AGTAT", "end": 898, "referenceAllele": "", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265359.3:c.358_359insAGTAT" ], "proteinEffect": { "hgvs": "XP_005265416.1:p.Thr120LysfsTer?", "hgvsWellDefined": "XP_005265416.1:p.[Thr120_Pro121delinsLysTyr;Ala123_Ser130delinsLeuThrProSerProLeuThrPro;Ser132_Leu137delinsValProHisLeuLysValPro;Gln139Pro;Gln141Gly;Ser143_Val149delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS064596" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265360.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "XP_005265417.1:p.Thr234LysfsTer?", "hgvsWellDefined": "XP_005265417.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS064597" }, { "coordinates": [ { "allele": "AGTAT", "end": 1156, "referenceAllele": "", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Thr234LysfsTer?", "hgvsWellDefined": "XP_011532276.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS100992" }, { "coordinates": [ { "allele": "AGTAT", "end": 1043, "referenceAllele": "", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533975.1:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "XP_011532277.1:p.Thr153LysfsTer?", "hgvsWellDefined": "XP_011532277.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS100993" }, { "coordinates": [ { "allele": "AGTAT", "end": 1115, "referenceAllele": "", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Thr234LysfsTer?", "hgvsWellDefined": "NP_001341618.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522615" }, { "coordinates": [ { "allele": "AGTAT", "end": 866, "referenceAllele": "", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.1:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Thr234LysfsTer?", "hgvsWellDefined": "NP_001341619.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522616" }, { "coordinates": [ { "allele": "AGTAT", "end": 1095, "referenceAllele": "", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.1:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Thr153LysfsTer?", "hgvsWellDefined": "NP_001341620.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522617" }, { "coordinates": [ { "allele": "AGTAT", "end": 1002, "referenceAllele": "", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.1:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Thr153LysfsTer?", "hgvsWellDefined": "NP_001341621.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522618" }, { "coordinates": [ { "allele": "AGTAT", "end": 1016, "referenceAllele": "", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.1:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Thr201LysfsTer?", "hgvsWellDefined": "NP_001341622.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522619" }, { "coordinates": [ { "allele": "AGTAT", "end": 1002, "referenceAllele": "", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.1:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Thr153LysfsTer?", "hgvsWellDefined": "NP_001341623.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522620" }, { "coordinates": [ { "allele": "AGTAT", "end": 903, "referenceAllele": "", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.1:c.358_359insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Thr120LysfsTer?", "hgvsWellDefined": "NP_001341624.1:p.[Thr120_Pro121delinsLysTyr;Ala123_Ser130delinsLeuThrProSerProLeuThrPro;Ser132_Leu137delinsValProHisLeuLysValPro;Gln139Pro;Gln141Gly;Ser143_Val149delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522621" }, { "coordinates": [ { "allele": "AGTAT", "end": 1115, "referenceAllele": "", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.1:n.1115_1116insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS531389" }, { "coordinates": [ { "allele": "AGTAT", "end": 1115, "referenceAllele": "", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.1:n.1115_1116insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS531390" }, { "coordinates": [ { "allele": "AGTAT", "end": 1115, "referenceAllele": "", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.1:n.1115_1116insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS531391" }, { "coordinates": [ { "allele": "AGTAT", "end": 1124, "referenceAllele": "", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.3:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Thr234LysfsTer?", "hgvsWellDefined": "XP_011532276.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS551450" }, { "coordinates": [ { "allele": "AGTAT", "end": 720, "referenceAllele": "", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_017006966.1:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "XP_016862455.1:p.Thr201LysfsTer?", "hgvsWellDefined": "XP_016862455.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS561850" }, { "coordinates": [ { "allele": "AGTAT", "end": 932, "referenceAllele": "", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XR_001740227.1:n.932_933insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS590444" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.3:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Thr234LysfsTer?", "hgvsWellDefined": "NP_001341618.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690283" }, { "coordinates": [ { "allele": "AGTAT", "end": 866, "referenceAllele": "", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.2:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Thr234LysfsTer?", "hgvsWellDefined": "NP_001341619.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690284" }, { "coordinates": [ { "allele": "AGTAT", "end": 1011, "referenceAllele": "", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.2:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Thr153LysfsTer?", "hgvsWellDefined": "NP_001341620.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690285" }, { "coordinates": [ { "allele": "AGTAT", "end": 918, "referenceAllele": "", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.2:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Thr153LysfsTer?", "hgvsWellDefined": "NP_001341621.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690286" }, { "coordinates": [ { "allele": "AGTAT", "end": 932, "referenceAllele": "", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.2:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Thr201LysfsTer?", "hgvsWellDefined": "NP_001341622.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690287" }, { "coordinates": [ { "allele": "AGTAT", "end": 918, "referenceAllele": "", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.2:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Thr153LysfsTer?", "hgvsWellDefined": "NP_001341623.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690288" }, { "coordinates": [ { "allele": "AGTAT", "end": 819, "referenceAllele": "", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.2:c.358_359insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Thr120LysfsTer?", "hgvsWellDefined": "NP_001341624.1:p.[Thr120_Pro121delinsLysTyr;Ala123_Ser130delinsLeuThrProSerProLeuThrPro;Ser132_Leu137delinsValProHisLeuLysValPro;Gln139Pro;Gln141Gly;Ser143_Val149delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690289" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.2:n.1031_1032insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS704891" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.2:n.1031_1032insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS704892" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.2:n.1031_1032insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS704893" }, { "coordinates": [ { "allele": "AGTAT", "end": 866, "referenceAllele": "", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.3:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Thr234LysfsTer?", "hgvsWellDefined": "NP_001341619.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720546" }, { "coordinates": [ { "allele": "AGTAT", "end": 1011, "referenceAllele": "", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.3:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Thr153LysfsTer?", "hgvsWellDefined": "NP_001341620.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720547" }, { "coordinates": [ { "allele": "AGTAT", "end": 918, "referenceAllele": "", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.3:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Thr153LysfsTer?", "hgvsWellDefined": "NP_001341621.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720548" }, { "coordinates": [ { "allele": "AGTAT", "end": 932, "referenceAllele": "", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.3:c.601_602insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Thr201LysfsTer?", "hgvsWellDefined": "NP_001341622.1:p.[Thr201_Pro202delinsLysTyr;Ala204_Ser211delinsLeuThrProSerProLeuThrPro;Ser213_Leu218delinsValProHisLeuLysValPro;Gln220Pro;Gln222Gly;Ser224_Val230delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720549" }, { "coordinates": [ { "allele": "AGTAT", "end": 918, "referenceAllele": "", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.3:c.457_458insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Thr153LysfsTer?", "hgvsWellDefined": "NP_001341623.1:p.[Thr153_Pro154delinsLysTyr;Ala156_Ser163delinsLeuThrProSerProLeuThrPro;Ser165_Leu170delinsValProHisLeuLysValPro;Gln172Pro;Gln174Gly;Ser176_Val182delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720550" }, { "coordinates": [ { "allele": "AGTAT", "end": 819, "referenceAllele": "", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.3:c.358_359insAGTAT" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Thr120LysfsTer?", "hgvsWellDefined": "NP_001341624.1:p.[Thr120_Pro121delinsLysTyr;Ala123_Ser130delinsLeuThrProSerProLeuThrPro;Ser132_Leu137delinsValProHisLeuLysValPro;Gln139Pro;Gln141Gly;Ser143_Val149delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720551" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.4:c.700_701insAGTAT" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Thr234LysfsTer?", "hgvsWellDefined": "NP_002871.1:p.[Thr234_Pro235delinsLysTyr;Ala237_Ser244delinsLeuThrProSerProLeuThrPro;Ser246_Leu251delinsValProHisLeuLysValPro;Gln253Pro;Gln255Gly;Ser257_Val263delinsGlyArgHisProHisLeuMetSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS727324", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.700_701insAGTAT" }, "RefSeq": { "hgvs": "NM_002880.4:c.700_701insAGTAT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Thr234LysfsTer?" }, "RefSeq": { "hgvs": "NP_002871.1:p.Thr234LysfsTer?" } } } }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.3:n.1031_1032insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS731498" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.3:n.1031_1032insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS731499" }, { "coordinates": [ { "allele": "AGTAT", "end": 1031, "referenceAllele": "", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.3:n.1031_1032insAGTAT" ], "referenceSequence": "http://reg.genome.network/refseq/RS731500" } ], "type": "nucleotide" }