{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3057243449", "communityStandardTitle": [ "NM_058216.3(RAD51C):c.1003_1004delinsAC (p.Cys335Thr)" ], "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "AC", "end": 58732522, "referenceAllele": "TG", "start": 58732520 } ], "hgvs": [ "NC_000017.11:g.58732521_58732522delinsAC", "CM000679.2:g.58732521_58732522delinsAC" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "AC", "end": 56809883, "referenceAllele": "TG", "start": 56809881 } ], "hgvs": [ "NC_000017.10:g.56809882_56809883delinsAC", "CM000679.1:g.56809882_56809883delinsAC" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "AC", "end": 54164882, "referenceAllele": "TG", "start": 54164880 } ], "hgvs": [ "NC_000017.9:g.54164881_54164882delinsAC" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "AC", "end": 44921, "referenceAllele": "TG", "start": 44919 } ], "hgvs": [ "NG_023199.1:g.44920_44921delinsAC", "LRG_314:g.44920_44921delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS003709" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "AC", "end": 972, "referenceAllele": "TG", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000461271.6:c.652_653delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000464056.2:p.Cys218Thr", "hgvsWellDefined": "ENSP00000464056.2:p.Cys218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS905081" }, { "coordinates": [ { "allele": "AC", "end": 2178, "referenceAllele": "TG", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697680.1:c.*1967_*1968delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513392.1:n.*1967_*1968delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908901" }, { "coordinates": [ { "allele": "AC", "end": 2375, "referenceAllele": "TG", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697681.1:c.*2164_*2165delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513393.1:n.*2164_*2165delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908902" }, { "coordinates": [ { "allele": "AC", "end": 2164, "referenceAllele": "TG", "start": 2162 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697683.1:c.*1939_*1940delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513395.1:n.*1939_*1940delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908904" }, { "coordinates": [ { "allele": "AC", "end": 1911, "referenceAllele": "TG", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697685.1:c.*1700_*1701delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513396.1:n.*1700_*1701delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908906" }, { "coordinates": [ { "allele": "AC", "end": 1018, "referenceAllele": "TG", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697686.1:c.774_775delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513397.1:p.Asn258_Ala259delinsLysPro", "hgvsWellDefined": "ENSP00000513397.1:p.Asn258_Ala259delinsLysPro" }, "referenceSequence": "http://reg.genome.network/refseq/RS908907" }, { "coordinates": [ { "allele": "AC", "end": 1641, "endIntronDirection": "-", "endIntronOffset": 1595, "referenceAllele": "TG", "start": 1641, "startIntronDirection": "-", "startIntronOffset": 1597 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697689.1:c.*1441-1597_*1441-1596delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513398.1:n.*1441-1597_*1441-1596delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908910" }, { "coordinates": [ { "allele": "AC", "end": 946, "endIntronDirection": "-", "endIntronOffset": 1595, "referenceAllele": "TG", "start": 946, "startIntronDirection": "-", "startIntronOffset": 1597 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697690.1:c.905-1597_905-1596delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513399.1:n.905-1597_905-1596delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908911" }, { "coordinates": [ { "allele": "AC", "end": 1228, "referenceAllele": "TG", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697691.1:c.*975_*976delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513400.1:n.*975_*976delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908912" }, { "coordinates": [ { "allele": "AC", "end": 1187, "referenceAllele": "TG", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697692.1:c.*1015_*1016delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513401.1:n.*1015_*1016delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908913" }, { "coordinates": [ { "allele": "AC", "end": 1096, "referenceAllele": "TG", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697694.1:c.652_653delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000513402.1:p.Cys218Thr", "hgvsWellDefined": "ENSP00000513402.1:p.Cys218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS908915" }, { "coordinates": [ { "allele": "AC", "end": 1611, "referenceAllele": "TG", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697695.1:n.1610_1611delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908916" }, { "coordinates": [ { "allele": "AC", "end": 1046, "referenceAllele": "TG", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000337432.9:c.1003_1004delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000336701.4:p.Cys335Thr", "hgvsWellDefined": "ENSP00000336701.4:p.Cys335Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS747657", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000337432.9:c.1003_1004delinsAC" }, "RefSeq": { "hgvs": "NM_058216.3:c.1003_1004delinsAC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000336701.4:p.Cys335Thr" }, "RefSeq": { "hgvs": "NP_478123.1:p.Cys335Thr" } } } }, { "coordinates": [ { "allele": "AC", "end": 1075, "referenceAllele": "TG", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000337432.8:c.1003_1004delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000336701.4:p.Cys335Thr", "hgvsWellDefined": "ENSP00000336701.4:p.Cys335Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS260473" }, { "coordinates": [ { "allele": "AC", "end": 645, "referenceAllele": "TG", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000413590.5:c.644_645delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS283140" }, { "coordinates": [ { "allele": "AC", "end": 191, "referenceAllele": "TG", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000461706.1:n.190_191delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS306156" }, { "coordinates": [ { "allele": "AC", "end": 1841, "referenceAllele": "TG", "start": 1839 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000475762.5:c.*1639_*1640delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000432421.1:n.*1639_*1640delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS316969" }, { "coordinates": [ { "allele": "AC", "end": 866, "referenceAllele": "TG", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000482007.5:c.*431_*432delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000433332.1:n.*431_*432delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS321806" }, { "coordinates": [ { "allele": "AC", "end": 1023, "referenceAllele": "TG", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000487525.5:c.*579_*580delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000431637.1:n.*579_*580delinsAC" }, "referenceSequence": "http://reg.genome.network/refseq/RS326071" }, { "coordinates": [ { "allele": "AC", "end": 239, "endIntronDirection": "-", "endIntronOffset": 1595, "referenceAllele": "TG", "start": 239, "startIntronDirection": "-", "startIntronOffset": 1597 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000578151.1:n.240-1597_240-1596delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS385211" }, { "coordinates": [ { "allele": "AC", "end": 519, "referenceAllele": "TG", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000581221.5:n.518_519delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS386689" }, { "coordinates": [ { "allele": "AC", "end": 1075, "referenceAllele": "TG", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000583539.5:c.1003_1004delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000463121.1:p.Cys335Thr", "hgvsWellDefined": "ENSP00000463121.1:p.Cys335Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS387804" }, { "coordinates": [ { "allele": "AC", "end": 238, "referenceAllele": "TG", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000584804.1:c.237_238delinsAC" ], "proteinEffect": { "hgvs": "ENSP00000463658.1:p.Asn79_Ala80delinsLysPro", "hgvsWellDefined": "ENSP00000463658.1:p.Asn79_Ala80delinsLysPro" }, "referenceSequence": "http://reg.genome.network/refseq/RS388395" }, { "coordinates": [ { "allele": "AC", "end": 1075, "referenceAllele": "TG", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_058216.2:c.1003_1004delinsAC" ], "proteinEffect": { "hgvs": "NP_478123.1:p.Cys335Thr", "hgvsWellDefined": "NP_478123.1:p.Cys335Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS040100" }, { "coordinates": [ { "allele": "AC", "end": 908, "referenceAllele": "TG", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NR_103872.1:n.907_908delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS053118" }, { "coordinates": [ { "allele": "AC", "end": 1080, "referenceAllele": "TG", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722001.2:c.1006_1007delinsAC" ], "proteinEffect": { "hgvs": "XP_006722064.1:p.Cys336Thr", "hgvsWellDefined": "XP_006722064.1:p.Cys336Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074366" }, { "coordinates": [ { "allele": "AC", "end": 1016, "referenceAllele": "TG", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722002.2:c.942_943delinsAC" ], "proteinEffect": { "hgvs": "XP_006722065.1:p.Asn314_Ala315delinsLysPro", "hgvsWellDefined": "XP_006722065.1:p.Asn314_Ala315delinsLysPro" }, "referenceSequence": "http://reg.genome.network/refseq/RS074367" }, { "coordinates": [ { "allele": "AC", "end": 972, "referenceAllele": "TG", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722004.2:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_006722067.1:p.Cys219Thr", "hgvsWellDefined": "XP_006722067.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074368" }, { "coordinates": [ { "allele": "AC", "end": 959, "referenceAllele": "TG", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722005.2:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_006722068.1:p.Cys219Thr", "hgvsWellDefined": "XP_006722068.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS074369" }, { "coordinates": [ { "allele": "AC", "end": 1258, "referenceAllele": "TG", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525092.1:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_011523394.1:p.Cys219Thr", "hgvsWellDefined": "XP_011523394.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS092211" }, { "coordinates": [ { "allele": "AC", "end": 1419, "referenceAllele": "TG", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525093.1:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_011523395.1:p.Cys219Thr", "hgvsWellDefined": "XP_011523395.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS092212" }, { "coordinates": [ { "allele": "AC", "end": 1020, "referenceAllele": "TG", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525094.1:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_011523396.1:p.Cys219Thr", "hgvsWellDefined": "XP_011523396.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS092213" }, { "coordinates": [ { "allele": "AC", "end": 1222, "referenceAllele": "TG", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934513.1:n.1221_1222delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS129822" }, { "coordinates": [ { "allele": "AC", "end": 1225, "referenceAllele": "TG", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934514.1:n.1224_1225delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS129823" }, { "coordinates": [ { "allele": "GT", "end": 149, "endIntronDirection": "+", "endIntronOffset": 5550, "referenceAllele": "CA", "start": 149, "startIntronDirection": "+", "startIntronOffset": 5548 } ], "hgvs": [ "XR_934886.1:n.149+5549_149+5550delinsGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS130174" }, { "coordinates": [ { "allele": "AC", "end": 1511, "referenceAllele": "TG", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722001.4:c.1006_1007delinsAC" ], "proteinEffect": { "hgvs": "XP_006722064.1:p.Cys336Thr", "hgvsWellDefined": "XP_006722064.1:p.Cys336Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540440" }, { "coordinates": [ { "allele": "AC", "end": 1447, "referenceAllele": "TG", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722002.4:c.942_943delinsAC" ], "proteinEffect": { "hgvs": "XP_006722065.1:p.Asn314_Ala315delinsLysPro", "hgvsWellDefined": "XP_006722065.1:p.Asn314_Ala315delinsLysPro" }, "referenceSequence": "http://reg.genome.network/refseq/RS540441" }, { "coordinates": [ { "allele": "AC", "end": 971, "referenceAllele": "TG", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722004.3:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_006722067.1:p.Cys219Thr", "hgvsWellDefined": "XP_006722067.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540442" }, { "coordinates": [ { "allele": "AC", "end": 957, "referenceAllele": "TG", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722005.3:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_006722068.1:p.Cys219Thr", "hgvsWellDefined": "XP_006722068.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS540443" }, { "coordinates": [ { "allele": "AC", "end": 1177, "referenceAllele": "TG", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525092.2:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_011523394.1:p.Cys219Thr", "hgvsWellDefined": "XP_011523394.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS547728" }, { "coordinates": [ { "allele": "AC", "end": 1338, "referenceAllele": "TG", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525093.2:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_011523395.1:p.Cys219Thr", "hgvsWellDefined": "XP_011523395.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS547729" }, { "coordinates": [ { "allele": "AC", "end": 1026, "referenceAllele": "TG", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525094.2:c.655_656delinsAC" ], "proteinEffect": { "hgvs": "XP_011523396.1:p.Cys219Thr", "hgvsWellDefined": "XP_011523396.1:p.Cys219Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS547730" }, { "coordinates": [ { "allele": "AC", "end": 968, "referenceAllele": "TG", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024914.1:c.652_653delinsAC" ], "proteinEffect": { "hgvs": "XP_016880403.1:p.Cys218Thr", "hgvsWellDefined": "XP_016880403.1:p.Cys218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS575355" }, { "coordinates": [ { "allele": "AC", "end": 1320, "referenceAllele": "TG", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024915.1:c.652_653delinsAC" ], "proteinEffect": { "hgvs": "XP_016880404.1:p.Cys218Thr", "hgvsWellDefined": "XP_016880404.1:p.Cys218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS575356" }, { "coordinates": [ { "allele": "AC", "end": 1228, "referenceAllele": "TG", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024916.1:c.652_653delinsAC" ], "proteinEffect": { "hgvs": "XP_016880405.1:p.Cys218Thr", "hgvsWellDefined": "XP_016880405.1:p.Cys218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS575357" }, { "coordinates": [ { "allele": "AC", "end": 953, "referenceAllele": "TG", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024917.1:c.652_653delinsAC" ], "proteinEffect": { "hgvs": "XP_016880406.1:p.Cys218Thr", "hgvsWellDefined": "XP_016880406.1:p.Cys218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS575358" }, { "coordinates": [ { "allele": "AC", "end": 1186, "referenceAllele": "TG", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024918.2:c.652_653delinsAC" ], "proteinEffect": { "hgvs": "XP_016880407.1:p.Cys218Thr", "hgvsWellDefined": "XP_016880407.1:p.Cys218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS575359" }, { "coordinates": [ { "allele": "AC", "end": 1274, "referenceAllele": "TG", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024919.1:c.591_592delinsAC" ], "proteinEffect": { "hgvs": "XP_016880408.1:p.Asn197_Ala198delinsLysPro", "hgvsWellDefined": "XP_016880408.1:p.Asn197_Ala198delinsLysPro" }, "referenceSequence": "http://reg.genome.network/refseq/RS575360" }, { "coordinates": [ { "allele": "AC", "end": 1653, "referenceAllele": "TG", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934513.3:n.1652_1653delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS610716" }, { "coordinates": [ { "allele": "AC", "end": 1656, "referenceAllele": "TG", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934514.3:n.1655_1656delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS610717" }, { "coordinates": [ { "allele": "GT", "end": 149, "endIntronDirection": "+", "endIntronOffset": 5550, "referenceAllele": "CA", "start": 149, "startIntronDirection": "+", "startIntronOffset": 5548 } ], "hgvs": [ "XR_934886.2:n.149+5549_149+5550delinsGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS610815" }, { "coordinates": [ { "allele": "AC", "end": 1046, "referenceAllele": "TG", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_058216.3:c.1003_1004delinsAC" ], "proteinEffect": { "hgvs": "NP_478123.1:p.Cys335Thr", "hgvsWellDefined": "NP_478123.1:p.Cys335Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS671701", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000337432.9:c.1003_1004delinsAC" }, "RefSeq": { "hgvs": "NM_058216.3:c.1003_1004delinsAC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000336701.4:p.Cys335Thr" }, "RefSeq": { "hgvs": "NP_478123.1:p.Cys335Thr" } } } }, { "coordinates": [ { "allele": "AC", "end": 879, "referenceAllele": "TG", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NR_103872.2:n.878_879delinsAC" ], "referenceSequence": "http://reg.genome.network/refseq/RS702892" } ], "type": "nucleotide" }