{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3060598053", "communityStandardTitle": [ "NM_058216.3(RAD51C):c.1007_1008delinsGC (p.Thr336Ser)" ], "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "GC", "end": 58732526, "referenceAllele": "CA", "start": 58732524 } ], "hgvs": [ "NC_000017.11:g.58732525_58732526delinsGC", "CM000679.2:g.58732525_58732526delinsGC" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "GC", "end": 56809887, "referenceAllele": "CA", "start": 56809885 } ], "hgvs": [ "NC_000017.10:g.56809886_56809887delinsGC", "CM000679.1:g.56809886_56809887delinsGC" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "GC", "end": 54164886, "referenceAllele": "CA", "start": 54164884 } ], "hgvs": [ "NC_000017.9:g.54164885_54164886delinsGC" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "GC", "end": 44925, "referenceAllele": "CA", "start": 44923 } ], "hgvs": [ "NG_023199.1:g.44924_44925delinsGC", "LRG_314:g.44924_44925delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS003709" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "GC", "end": 976, "referenceAllele": "CA", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000461271.6:c.656_657delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000464056.2:p.Thr219Ser", "hgvsWellDefined": "ENSP00000464056.2:p.Thr219Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS905081" }, { "coordinates": [ { "allele": "GC", "end": 2182, "referenceAllele": "CA", "start": 2180 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697680.1:c.*1971_*1972delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513392.1:n.*1971_*1972delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908901" }, { "coordinates": [ { "allele": "GC", "end": 2379, "referenceAllele": "CA", "start": 2377 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697681.1:c.*2168_*2169delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513393.1:n.*2168_*2169delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908902" }, { "coordinates": [ { "allele": "GC", "end": 2168, "referenceAllele": "CA", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697683.1:c.*1943_*1944delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513395.1:n.*1943_*1944delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908904" }, { "coordinates": [ { "allele": "GC", "end": 1915, "referenceAllele": "CA", "start": 1913 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697685.1:c.*1704_*1705delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513396.1:n.*1704_*1705delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908906" }, { "coordinates": [ { "allele": "GC", "end": 1022, "referenceAllele": "CA", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697686.1:c.778_779delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513397.1:p.Gln260Ala", "hgvsWellDefined": "ENSP00000513397.1:p.Gln260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS908907" }, { "coordinates": [ { "allele": "GC", "end": 1641, "endIntronDirection": "-", "endIntronOffset": 1591, "referenceAllele": "CA", "start": 1641, "startIntronDirection": "-", "startIntronOffset": 1593 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697689.1:c.*1441-1593_*1441-1592delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513398.1:n.*1441-1593_*1441-1592delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908910" }, { "coordinates": [ { "allele": "GC", "end": 946, "endIntronDirection": "-", "endIntronOffset": 1591, "referenceAllele": "CA", "start": 946, "startIntronDirection": "-", "startIntronOffset": 1593 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697690.1:c.905-1593_905-1592delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513399.1:n.905-1593_905-1592delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908911" }, { "coordinates": [ { "allele": "GC", "end": 1232, "referenceAllele": "CA", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697691.1:c.*979_*980delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513400.1:n.*979_*980delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908912" }, { "coordinates": [ { "allele": "GC", "end": 1191, "referenceAllele": "CA", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697692.1:c.*1019_*1020delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513401.1:n.*1019_*1020delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908913" }, { "coordinates": [ { "allele": "GC", "end": 1100, "referenceAllele": "CA", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697694.1:c.656_657delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513402.1:p.Thr219Ser", "hgvsWellDefined": "ENSP00000513402.1:p.Thr219Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS908915" }, { "coordinates": [ { "allele": "GC", "end": 1615, "referenceAllele": "CA", "start": 1613 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697695.1:n.1614_1615delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908916" }, { "coordinates": [ { "allele": "GC", "end": 1050, "referenceAllele": "CA", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000337432.9:c.1007_1008delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000336701.4:p.Thr336Ser", "hgvsWellDefined": "ENSP00000336701.4:p.Thr336Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS747657", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000337432.9:c.1007_1008delinsGC" }, "RefSeq": { "hgvs": "NM_058216.3:c.1007_1008delinsGC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000336701.4:p.Thr336Ser" }, "RefSeq": { "hgvs": "NP_478123.1:p.Thr336Ser" } } } }, { "coordinates": [ { "allele": "GC", "end": 1079, "referenceAllele": "CA", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000337432.8:c.1007_1008delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000336701.4:p.Thr336Ser", "hgvsWellDefined": "ENSP00000336701.4:p.Thr336Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS260473" }, { "coordinates": [ { "allele": "GC", "end": 649, "referenceAllele": "CA", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000413590.5:c.648_649delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS283140" }, { "coordinates": [ { "allele": "GC", "end": 195, "referenceAllele": "CA", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000461706.1:n.194_195delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS306156" }, { "coordinates": [ { "allele": "GC", "end": 1845, "referenceAllele": "CA", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000475762.5:c.*1643_*1644delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000432421.1:n.*1643_*1644delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS316969" }, { "coordinates": [ { "allele": "GC", "end": 870, "referenceAllele": "CA", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000482007.5:c.*435_*436delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000433332.1:n.*435_*436delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS321806" }, { "coordinates": [ { "allele": "GC", "end": 1027, "referenceAllele": "CA", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000487525.5:c.*583_*584delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000431637.1:n.*583_*584delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS326071" }, { "coordinates": [ { "allele": "GC", "end": 239, "endIntronDirection": "-", "endIntronOffset": 1591, "referenceAllele": "CA", "start": 239, "startIntronDirection": "-", "startIntronOffset": 1593 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000578151.1:n.240-1593_240-1592delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS385211" }, { "coordinates": [ { "allele": "GC", "end": 523, "referenceAllele": "CA", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000581221.5:n.522_523delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS386689" }, { "coordinates": [ { "allele": "GC", "end": 1079, "referenceAllele": "CA", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000583539.5:c.1007_1008delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000463121.1:p.Thr336Ser", "hgvsWellDefined": "ENSP00000463121.1:p.Thr336Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS387804" }, { "coordinates": [ { "allele": "GC", "end": 242, "referenceAllele": "CA", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000584804.1:c.241_242delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000463658.1:p.Gln81Ala", "hgvsWellDefined": "ENSP00000463658.1:p.Gln81Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS388395" }, { "coordinates": [ { "allele": "GC", "end": 1079, "referenceAllele": "CA", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_058216.2:c.1007_1008delinsGC" ], "proteinEffect": { "hgvs": "NP_478123.1:p.Thr336Ser", "hgvsWellDefined": "NP_478123.1:p.Thr336Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS040100" }, { "coordinates": [ { "allele": "GC", "end": 912, "referenceAllele": "CA", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NR_103872.1:n.911_912delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS053118" }, { "coordinates": [ { "allele": "GC", "end": 1084, "referenceAllele": "CA", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722001.2:c.1010_1011delinsGC" ], "proteinEffect": { "hgvs": "XP_006722064.1:p.Thr337Ser", "hgvsWellDefined": "XP_006722064.1:p.Thr337Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074366" }, { "coordinates": [ { "allele": "GC", "end": 1020, "referenceAllele": "CA", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722002.2:c.946_947delinsGC" ], "proteinEffect": { "hgvs": "XP_006722065.1:p.Gln316Ala", "hgvsWellDefined": "XP_006722065.1:p.Gln316Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS074367" }, { "coordinates": [ { "allele": "GC", "end": 976, "referenceAllele": "CA", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722004.2:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_006722067.1:p.Thr220Ser", "hgvsWellDefined": "XP_006722067.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074368" }, { "coordinates": [ { "allele": "GC", "end": 963, "referenceAllele": "CA", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722005.2:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_006722068.1:p.Thr220Ser", "hgvsWellDefined": "XP_006722068.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS074369" }, { "coordinates": [ { "allele": "GC", "end": 1262, "referenceAllele": "CA", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525092.1:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_011523394.1:p.Thr220Ser", "hgvsWellDefined": "XP_011523394.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS092211" }, { "coordinates": [ { "allele": "GC", "end": 1423, "referenceAllele": "CA", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525093.1:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_011523395.1:p.Thr220Ser", "hgvsWellDefined": "XP_011523395.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS092212" }, { "coordinates": [ { "allele": "GC", "end": 1024, "referenceAllele": "CA", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525094.1:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_011523396.1:p.Thr220Ser", "hgvsWellDefined": "XP_011523396.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS092213" }, { "coordinates": [ { "allele": "GC", "end": 1226, "referenceAllele": "CA", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934513.1:n.1225_1226delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS129822" }, { "coordinates": [ { "allele": "GC", "end": 1229, "referenceAllele": "CA", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934514.1:n.1228_1229delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS129823" }, { "coordinates": [ { "allele": "GC", "end": 149, "endIntronDirection": "+", "endIntronOffset": 5546, "referenceAllele": "TG", "start": 149, "startIntronDirection": "+", "startIntronOffset": 5544 } ], "hgvs": [ "XR_934886.1:n.149+5545_149+5546delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS130174" }, { "coordinates": [ { "allele": "GC", "end": 1515, "referenceAllele": "CA", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722001.4:c.1010_1011delinsGC" ], "proteinEffect": { "hgvs": "XP_006722064.1:p.Thr337Ser", "hgvsWellDefined": "XP_006722064.1:p.Thr337Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS540440" }, { "coordinates": [ { "allele": "GC", "end": 1451, "referenceAllele": "CA", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722002.4:c.946_947delinsGC" ], "proteinEffect": { "hgvs": "XP_006722065.1:p.Gln316Ala", "hgvsWellDefined": "XP_006722065.1:p.Gln316Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS540441" }, { "coordinates": [ { "allele": "GC", "end": 975, "referenceAllele": "CA", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722004.3:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_006722067.1:p.Thr220Ser", "hgvsWellDefined": "XP_006722067.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS540442" }, { "coordinates": [ { "allele": "GC", "end": 961, "referenceAllele": "CA", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722005.3:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_006722068.1:p.Thr220Ser", "hgvsWellDefined": "XP_006722068.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS540443" }, { "coordinates": [ { "allele": "GC", "end": 1181, "referenceAllele": "CA", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525092.2:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_011523394.1:p.Thr220Ser", "hgvsWellDefined": "XP_011523394.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS547728" }, { "coordinates": [ { "allele": "GC", "end": 1342, "referenceAllele": "CA", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525093.2:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_011523395.1:p.Thr220Ser", "hgvsWellDefined": "XP_011523395.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS547729" }, { "coordinates": [ { "allele": "GC", "end": 1030, "referenceAllele": "CA", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525094.2:c.659_660delinsGC" ], "proteinEffect": { "hgvs": "XP_011523396.1:p.Thr220Ser", "hgvsWellDefined": "XP_011523396.1:p.Thr220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS547730" }, { "coordinates": [ { "allele": "GC", "end": 972, "referenceAllele": "CA", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024914.1:c.656_657delinsGC" ], "proteinEffect": { "hgvs": "XP_016880403.1:p.Thr219Ser", "hgvsWellDefined": "XP_016880403.1:p.Thr219Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS575355" }, { "coordinates": [ { "allele": "GC", "end": 1324, "referenceAllele": "CA", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024915.1:c.656_657delinsGC" ], "proteinEffect": { "hgvs": "XP_016880404.1:p.Thr219Ser", "hgvsWellDefined": "XP_016880404.1:p.Thr219Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS575356" }, { "coordinates": [ { "allele": "GC", "end": 1232, "referenceAllele": "CA", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024916.1:c.656_657delinsGC" ], "proteinEffect": { "hgvs": "XP_016880405.1:p.Thr219Ser", "hgvsWellDefined": "XP_016880405.1:p.Thr219Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS575357" }, { "coordinates": [ { "allele": "GC", "end": 957, "referenceAllele": "CA", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024917.1:c.656_657delinsGC" ], "proteinEffect": { "hgvs": "XP_016880406.1:p.Thr219Ser", "hgvsWellDefined": "XP_016880406.1:p.Thr219Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS575358" }, { "coordinates": [ { "allele": "GC", "end": 1190, "referenceAllele": "CA", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024918.2:c.656_657delinsGC" ], "proteinEffect": { "hgvs": "XP_016880407.1:p.Thr219Ser", "hgvsWellDefined": "XP_016880407.1:p.Thr219Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS575359" }, { "coordinates": [ { "allele": "GC", "end": 1278, "referenceAllele": "CA", "start": 1276 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024919.1:c.595_596delinsGC" ], "proteinEffect": { "hgvs": "XP_016880408.1:p.Gln199Ala", "hgvsWellDefined": "XP_016880408.1:p.Gln199Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS575360" }, { "coordinates": [ { "allele": "GC", "end": 1657, "referenceAllele": "CA", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934513.3:n.1656_1657delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS610716" }, { "coordinates": [ { "allele": "GC", "end": 1660, "referenceAllele": "CA", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934514.3:n.1659_1660delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS610717" }, { "coordinates": [ { "allele": "GC", "end": 149, "endIntronDirection": "+", "endIntronOffset": 5546, "referenceAllele": "TG", "start": 149, "startIntronDirection": "+", "startIntronOffset": 5544 } ], "hgvs": [ "XR_934886.2:n.149+5545_149+5546delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS610815" }, { "coordinates": [ { "allele": "GC", "end": 1050, "referenceAllele": "CA", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_058216.3:c.1007_1008delinsGC" ], "proteinEffect": { "hgvs": "NP_478123.1:p.Thr336Ser", "hgvsWellDefined": "NP_478123.1:p.Thr336Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS671701", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000337432.9:c.1007_1008delinsGC" }, "RefSeq": { "hgvs": "NM_058216.3:c.1007_1008delinsGC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000336701.4:p.Thr336Ser" }, "RefSeq": { "hgvs": "NP_478123.1:p.Thr336Ser" } } } }, { "coordinates": [ { "allele": "GC", "end": 883, "referenceAllele": "CA", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NR_103872.2:n.882_883delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS702892" } ], "type": "nucleotide" }