{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3261047771", "communityStandardTitle": [ "NM_002880.4(RAF1):c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC (p.Asn241SerfsTer?)" ], "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "GCGGGAGCAGAGCTGGTGGACGTGGAAGATGCTGGAGCTCCCCACTGAGGGAGGGGCTGCTG", "end": 12604250, "referenceAllele": "", "start": 12604250 } ], "hgvs": [ "NC_000003.12:g.12604250_12604251insGCGGGAGCAGAGCTGGTGGACGTGGAAGATGCTGGAGCTCCCCACTGAGGGAGGGGCTGCTG", "CM000665.2:g.12604250_12604251insGCGGGAGCAGAGCTGGTGGACGTGGAAGATGCTGGAGCTCCCCACTGAGGGAGGGGCTGCTG" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "GCGGGAGCAGAGCTGGTGGACGTGGAAGATGCTGGAGCTCCCCACTGAGGGAGGGGCTGCTG", "end": 12645749, "referenceAllele": "", "start": 12645749 } ], "hgvs": [ "NC_000003.11:g.12645749_12645750insGCGGGAGCAGAGCTGGTGGACGTGGAAGATGCTGGAGCTCCCCACTGAGGGAGGGGCTGCTG", "CM000665.1:g.12645749_12645750insGCGGGAGCAGAGCTGGTGGACGTGGAAGATGCTGGAGCTCCCCACTGAGGGAGGGGCTGCTG" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "GCGGGAGCAGAGCTGGTGGACGTGGAAGATGCTGGAGCTCCCCACTGAGGGAGGGGCTGCTG", "end": 12620749, "referenceAllele": "", "start": 12620749 } ], "hgvs": [ "NC_000003.10:g.12620749_12620750insGCGGGAGCAGAGCTGGTGGACGTGGAAGATGCTGGAGCTCCCCACTGAGGGAGGGGCTGCTG" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 64929, "referenceAllele": "", "start": 64929 } ], "hgvs": [ "NG_007467.1:g.64929_64930insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "LRG_413:g.64929_64930insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS000592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 686, "referenceAllele": "", "start": 686 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.2:c.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000391265.2:n.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS824657" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 919, "referenceAllele": "", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.6:c.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS824726" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 39, "referenceAllele": "", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.3:c.39_40insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS824839" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 310, "referenceAllele": "", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.6:n.310_311insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS825161" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1096, "referenceAllele": "", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.2:n.1096_1097insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS825419" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1021, "referenceAllele": "", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000684903.1:c.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000508612.1:n.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS829785" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 955, "referenceAllele": "", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685348.1:c.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000510285.1:n.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS830023" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1044, "referenceAllele": "", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685437.1:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000508794.1:p.Asn208SerfsTer?", "hgvsWellDefined": "ENSP00000508794.1:p.[Asn208_Thr209del;Ser214_Glu215delinsLeuSer;Ser217Glu;Ser219_Gln222delinsGlnHisLeuPro;Ser224_Ser226delinsProProAlaLeuLeuProLeu;Asn229Pro;Val230_His231insPro;Met232delinsLeuLys;Val233_Ser234insPro;Thr235delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr236_Leu237insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830075" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 2424, "referenceAllele": "", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685653.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509968.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000509968.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830186" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685738.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000510156.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000510156.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830228" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 848, "referenceAllele": "", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685959.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000510452.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000510452.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830326" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1319, "referenceAllele": "", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686409.1:n.1319_1320insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS830557" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1082, "referenceAllele": "", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN009829", 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"proteinEffect": { "hgvs": "ENSP00000509767.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000509767.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830729" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 955, "referenceAllele": "", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687257.1:n.955_956insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS831004" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687326.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509665.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000509665.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831034" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 39, "referenceAllele": "", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687486.1:c.39_40insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS831111" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 837, "referenceAllele": "", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687505.1:n.837_838insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS831119" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 945, "referenceAllele": "", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687923.1:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000510255.1:p.Asn208SerfsTer?", "hgvsWellDefined": "ENSP00000510255.1:p.[Asn208_Thr209del;Ser214_Glu215delinsLeuSer;Ser217Glu;Ser219_Gln222delinsGlnHisLeuPro;Ser224_Ser226delinsProProAlaLeuLeuProLeu;Asn229Pro;Val230_His231insPro;Met232delinsLeuLys;Val233_Ser234insPro;Thr235delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr236_Leu237insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831334" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1096, "referenceAllele": "", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687940.1:n.1096_1097insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS831344" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1327, "referenceAllele": "", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688269.1:n.1327_1328insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS831533" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 39, "referenceAllele": "", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688326.1:c.39_40insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS831566" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1045, "referenceAllele": "", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688444.1:n.1045_1046insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS831632" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1021, "referenceAllele": "", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688543.1:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509612.1:p.Asn208SerfsTer?", "hgvsWellDefined": "ENSP00000509612.1:p.[Asn208_Thr209del;Ser214_Glu215delinsLeuSer;Ser217Glu;Ser219_Gln222delinsGlnHisLeuPro;Ser224_Ser226delinsProProAlaLeuLeuProLeu;Asn229Pro;Val230_His231insPro;Met232delinsLeuLys;Val233_Ser234insPro;Thr235delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr236_Leu237insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831682" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 810, "referenceAllele": "", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688625.1:c.*297_*298insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509522.1:n.*297_*298insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS831731" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 950, "referenceAllele": "", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688803.1:n.950_951insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS831828" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 933, "referenceAllele": "", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689033.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000508983.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000508983.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831951" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 779, "referenceAllele": "", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, 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"ENSP00000510213.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832143" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 942, "referenceAllele": "", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689418.1:c.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509467.1:n.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS832158" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 739, "referenceAllele": "", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689481.1:c.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000510248.1:n.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS832193" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 869, "referenceAllele": "", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689540.1:n.869_870insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS832229" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1046, "referenceAllele": "", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689876.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000508535.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000508535.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832419" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1063, "referenceAllele": "", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689914.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509847.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000509847.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832441" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 951, "referenceAllele": "", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690397.1:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000508730.1:p.Asn208SerfsTer?", "hgvsWellDefined": "ENSP00000508730.1:p.[Asn208_Thr209del;Ser214_Glu215delinsLeuSer;Ser217Glu;Ser219_Gln222delinsGlnHisLeuPro;Ser224_Ser226delinsProProAlaLeuLeuProLeu;Asn229Pro;Val230_His231insPro;Met232delinsLeuLys;Val233_Ser234insPro;Thr235delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr236_Leu237insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832679" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690460.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509106.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000509106.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832713" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1022, "referenceAllele": "", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690625.1:n.1022_1023insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS832797" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 261, "endIntronDirection": "-", "endIntronOffset": 3835, "referenceAllele": "", "start": 261, "startIntronDirection": "-", "startIntronOffset": 3835 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691268.1:c.262-3836_262-3835insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS833133" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1095, "referenceAllele": "", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691396.1:c.*512_*513insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000510712.1:n.*512_*513insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS833193" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1044, "referenceAllele": "", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691724.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509255.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000509255.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833349" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 846, "referenceAllele": "", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691779.1:c.*297_*298insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000508592.1:n.*297_*298insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS833377" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 885, "referenceAllele": "", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691899.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000508763.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000508763.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833435" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1053, "referenceAllele": "", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692093.1:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509669.1:p.Asn208SerfsTer?", "hgvsWellDefined": "ENSP00000509669.1:p.[Asn208_Thr209del;Ser214_Glu215delinsLeuSer;Ser217Glu;Ser219_Gln222delinsGlnHisLeuPro;Ser224_Ser226delinsProProAlaLeuLeuProLeu;Asn229Pro;Val230_His231insPro;Met232delinsLeuLys;Val233_Ser234insPro;Thr235delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr236_Leu237insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833541" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1092, "referenceAllele": "", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692311.1:n.1092_1093insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS833653" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1084, "referenceAllele": "", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692558.1:n.1084_1085insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS833776" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 910, "referenceAllele": "", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692773.1:c.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509055.1:n.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS833877" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 700, "referenceAllele": "", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692830.1:c.*464_*465insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509461.1:n.*464_*465insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS833910" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 646, "referenceAllele": "", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693069.1:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000510072.1:p.Asn208SerfsTer?", "hgvsWellDefined": "ENSP00000510072.1:p.[Asn208_Thr209del;Ser214_Glu215delinsLeuSer;Ser217Glu;Ser219_Gln222delinsGlnHisLeuPro;Ser224_Ser226delinsProProAlaLeuLeuProLeu;Asn229Pro;Val230_His231insPro;Met232delinsLeuLys;Val233_Ser234insPro;Thr235delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr236_Leu237insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS834047" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 795, "referenceAllele": "", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693312.1:c.494_495insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000508686.1:p.Asn166SerfsTer?", "hgvsWellDefined": "ENSP00000508686.1:p.[Asn166_Thr167del;Ser172_Glu173delinsLeuSer;Ser175Glu;Ser177_Gln180delinsGlnHisLeuPro;Ser182_Ser184delinsProProAlaLeuLeuProLeu;Asn187Pro;Val188_His189insPro;Met190delinsLeuLys;Val191_Ser192insPro;Thr193delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr194_Leu195insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS834179" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1028, "referenceAllele": "", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693664.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000509614.1:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000509614.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS834363" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 706, "referenceAllele": "", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693705.1:c.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000510697.1:n.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS834385" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.9:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000251849.4:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS741499", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "RefSeq": { "hgvs": "NM_002880.4:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Asn241SerfsTer?" }, "RefSeq": { "hgvs": "NP_002871.1:p.Asn241SerfsTer?" } } } }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.7:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000401888.2:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS755905" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1159, "referenceAllele": "", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.8:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Asn241SerfsTer?", "hgvsWellDefined": "ENSP00000251849.4:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS249768" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 846, "referenceAllele": "", "start": 846 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.1:c.*297_*298insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000391265.1:n.*297_*298insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS284305" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 945, "referenceAllele": "", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.5:c.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*396_*397insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS287680" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 356, "referenceAllele": "", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.2:c.356_357insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "ENSP00000398591.2:p.Asn120SerfsTer?", "hgvsWellDefined": "ENSP00000398591.2:p.[Asn120_Thr121del;Ser126_Glu127delinsLeuSer;Ser129Glu;Ser131_Gln134delinsGlnHisLeuPro;Ser136_Ser138delinsProProAlaLeuLeuProLeu;Asn141Pro;Val142_His143insPro;Met144delinsLeuLys;Val145_Ser146insPro;Thr147delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr148_Leu149insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS292084" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1081, "referenceAllele": "", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, 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"http://reg.genome.network/refseq/RS328920" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1134, "referenceAllele": "", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.3:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "LRG_413t1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Asn241SerfsTer?", "hgvsWellDefined": "NP_002871.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS028166" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 862, "referenceAllele": "", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265355.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "XP_005265412.1:p.Asn241SerfsTer?", "hgvsWellDefined": "XP_005265412.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS064593" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 951, "referenceAllele": "", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, 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"XP_005265416.1:p.[Asn127_Thr128del;Ser133_Glu134delinsLeuSer;Ser136Glu;Ser138_Gln141delinsGlnHisLeuPro;Ser143_Ser145delinsProProAlaLeuLeuProLeu;Asn148Pro;Val149_His150insPro;Met151delinsLeuLys;Val152_Ser153insPro;Thr154delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr155_Leu156insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS064596" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265360.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "XP_005265417.1:p.Asn241SerfsTer?", "hgvsWellDefined": "XP_005265417.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS064597" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1175, "referenceAllele": "", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Asn241SerfsTer?", "hgvsWellDefined": "XP_011532276.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS100992" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1062, "referenceAllele": "", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533975.1:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "XP_011532277.1:p.Asn160SerfsTer?", "hgvsWellDefined": "XP_011532277.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS100993" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1134, "referenceAllele": "", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Asn241SerfsTer?", "hgvsWellDefined": "NP_001341618.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522615" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 885, "referenceAllele": "", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.1:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Asn241SerfsTer?", "hgvsWellDefined": "NP_001341619.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522616" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1114, "referenceAllele": "", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.1:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Asn160SerfsTer?", "hgvsWellDefined": "NP_001341620.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522617" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1021, "referenceAllele": "", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.1:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Asn160SerfsTer?", "hgvsWellDefined": "NP_001341621.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522618" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1035, "referenceAllele": "", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.1:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Asn208SerfsTer?", "hgvsWellDefined": "NP_001341622.1:p.[Asn208_Thr209del;Ser214_Glu215delinsLeuSer;Ser217Glu;Ser219_Gln222delinsGlnHisLeuPro;Ser224_Ser226delinsProProAlaLeuLeuProLeu;Asn229Pro;Val230_His231insPro;Met232delinsLeuLys;Val233_Ser234insPro;Thr235delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr236_Leu237insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522619" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1021, "referenceAllele": "", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.1:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Asn160SerfsTer?", "hgvsWellDefined": "NP_001341623.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522620" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 922, "referenceAllele": "", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.1:c.377_378insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Asn127SerfsTer?", "hgvsWellDefined": "NP_001341624.1:p.[Asn127_Thr128del;Ser133_Glu134delinsLeuSer;Ser136Glu;Ser138_Gln141delinsGlnHisLeuPro;Ser143_Ser145delinsProProAlaLeuLeuProLeu;Asn148Pro;Val149_His150insPro;Met151delinsLeuLys;Val152_Ser153insPro;Thr154delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr155_Leu156insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS522621" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1134, "referenceAllele": "", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.1:n.1134_1135insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS531389" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1134, "referenceAllele": "", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN009829", 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{ "hgvs": "XP_011532276.1:p.Asn241SerfsTer?", "hgvsWellDefined": "XP_011532276.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS551450" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 739, "referenceAllele": "", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_017006966.1:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "XP_016862455.1:p.Asn208SerfsTer?", "hgvsWellDefined": 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"NP_001341619.1:p.Asn241SerfsTer?", "hgvsWellDefined": "NP_001341619.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690284" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1030, "referenceAllele": "", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.2:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Asn160SerfsTer?", "hgvsWellDefined": "NP_001341620.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690285" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 937, "referenceAllele": "", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.2:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Asn160SerfsTer?", "hgvsWellDefined": "NP_001341621.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690286" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 951, "referenceAllele": "", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.2:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Asn208SerfsTer?", "hgvsWellDefined": "NP_001341622.1:p.[Asn208_Thr209del;Ser214_Glu215delinsLeuSer;Ser217Glu;Ser219_Gln222delinsGlnHisLeuPro;Ser224_Ser226delinsProProAlaLeuLeuProLeu;Asn229Pro;Val230_His231insPro;Met232delinsLeuLys;Val233_Ser234insPro;Thr235delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr236_Leu237insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690287" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 937, "referenceAllele": "", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.2:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Asn160SerfsTer?", "hgvsWellDefined": "NP_001341623.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690288" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 838, "referenceAllele": "", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.2:c.377_378insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Asn127SerfsTer?", "hgvsWellDefined": "NP_001341624.1:p.[Asn127_Thr128del;Ser133_Glu134delinsLeuSer;Ser136Glu;Ser138_Gln141delinsGlnHisLeuPro;Ser143_Ser145delinsProProAlaLeuLeuProLeu;Asn148Pro;Val149_His150insPro;Met151delinsLeuLys;Val152_Ser153insPro;Thr154delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr155_Leu156insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS690289" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.2:n.1050_1051insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS704891" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.2:n.1050_1051insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS704892" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.2:n.1050_1051insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS704893" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 885, "referenceAllele": "", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.3:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Asn241SerfsTer?", "hgvsWellDefined": "NP_001341619.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720546" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1030, "referenceAllele": "", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.3:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Asn160SerfsTer?", "hgvsWellDefined": "NP_001341620.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720547" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 937, "referenceAllele": "", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.3:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Asn160SerfsTer?", "hgvsWellDefined": "NP_001341621.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720548" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 951, "referenceAllele": "", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.3:c.620_621insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Asn208SerfsTer?", "hgvsWellDefined": "NP_001341622.1:p.[Asn208_Thr209del;Ser214_Glu215delinsLeuSer;Ser217Glu;Ser219_Gln222delinsGlnHisLeuPro;Ser224_Ser226delinsProProAlaLeuLeuProLeu;Asn229Pro;Val230_His231insPro;Met232delinsLeuLys;Val233_Ser234insPro;Thr235delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr236_Leu237insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720549" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 937, "referenceAllele": "", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.3:c.476_477insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Asn160SerfsTer?", "hgvsWellDefined": "NP_001341623.1:p.[Asn160_Thr161del;Ser166_Glu167delinsLeuSer;Ser169Glu;Ser171_Gln174delinsGlnHisLeuPro;Ser176_Ser178delinsProProAlaLeuLeuProLeu;Asn181Pro;Val182_His183insPro;Met184delinsLeuLys;Val185_Ser186insPro;Thr187delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr188_Leu189insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720550" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 838, "referenceAllele": "", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.3:c.377_378insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Asn127SerfsTer?", "hgvsWellDefined": "NP_001341624.1:p.[Asn127_Thr128del;Ser133_Glu134delinsLeuSer;Ser136Glu;Ser138_Gln141delinsGlnHisLeuPro;Ser143_Ser145delinsProProAlaLeuLeuProLeu;Asn148Pro;Val149_His150insPro;Met151delinsLeuLys;Val152_Ser153insPro;Thr154delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr155_Leu156insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS720551" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.4:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Asn241SerfsTer?", "hgvsWellDefined": "NP_002871.1:p.[Asn241_Thr242del;Ser247_Glu248delinsLeuSer;Ser250Glu;Ser252_Gln255delinsGlnHisLeuPro;Ser257_Ser259delinsProProAlaLeuLeuProLeu;Asn262Pro;Val263_His264insPro;Met265delinsLeuLys;Val266_Ser267insPro;Thr268delinsProArgGlyArgGlyArgHisProHisLeuMetSer;Thr269_Leu270insTrpSerAlaProPro]" }, "referenceSequence": "http://reg.genome.network/refseq/RS727324", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" }, "RefSeq": { "hgvs": "NM_002880.4:c.719_720insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Asn241SerfsTer?" }, "RefSeq": { "hgvs": "NP_002871.1:p.Asn241SerfsTer?" } } } }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.3:n.1050_1051insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS731498" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.3:n.1050_1051insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS731499" }, { "coordinates": [ { "allele": "CAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC", "end": 1050, "referenceAllele": "", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.3:n.1050_1051insCAGCAGCCCCTCCCTCAGTGGGGAGCTCCAGCATCTTCCACGTCCACCAGCTCTGCTCCCGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS731500" } ], "type": "nucleotide" }