{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3060598357", "communityStandardTitle": [ "NM_058216.3(RAD51C):c.107_108delinsGC (p.Glu36Gly)" ], "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "GC", "end": 58692751, "referenceAllele": "AG", "start": 58692749 } ], "hgvs": [ "NC_000017.11:g.58692750_58692751delinsGC", "CM000679.2:g.58692750_58692751delinsGC" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "GC", "end": 56770112, "referenceAllele": "AG", "start": 56770110 } ], "hgvs": [ "NC_000017.10:g.56770111_56770112delinsGC", "CM000679.1:g.56770111_56770112delinsGC" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "GC", "end": 54125111, "referenceAllele": "AG", "start": 54125109 } ], "hgvs": [ "NC_000017.9:g.54125110_54125111delinsGC" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "GC", "end": 5150, "referenceAllele": "AG", "start": 5148 } ], "hgvs": [ "NG_023199.1:g.5149_5150delinsGC", "LRG_314:g.5149_5150delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS003709" }, { "coordinates": [ { "allele": "GC", "end": 4330, "referenceAllele": "CT", "start": 4328 } ], "hgvs": [ "NG_047169.1:g.4329_4330delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS616688" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "GC", "end": 113, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 113, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000461271.6:c.-207+65_-207+66delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000464056.2:n.-207+65_-207+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS905081" }, { "coordinates": [ { "allele": "GC", "end": 179, "referenceAllele": "AG", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697675.1:n.178_179delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908896" }, { "coordinates": [ { "allele": "GC", "end": 168, "referenceAllele": "AG", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697676.1:n.167_168delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908897" }, { "coordinates": [ { "allele": "GC", "end": 166, "referenceAllele": "AG", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697677.1:n.165_166delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908898" }, { "coordinates": [ { "allele": "GC", "end": 47, "endIntronDirection": "+", "endIntronOffset": 119, "referenceAllele": "AG", "start": 47, "startIntronDirection": "+", "startIntronOffset": 117 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697678.1:n.47+118_47+119delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908899" }, { "coordinates": [ { "allele": "GC", "end": 159, "referenceAllele": "AG", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697679.1:n.158_159delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908900" }, { "coordinates": [ { "allele": "GC", "end": 159, "referenceAllele": "AG", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697680.1:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513392.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000513392.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS908901" }, { "coordinates": [ { "allele": "GC", "end": 159, "referenceAllele": "AG", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697681.1:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513393.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000513393.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS908902" }, { "coordinates": [ { "allele": "GC", "end": 173, "referenceAllele": "AG", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697683.1:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513395.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000513395.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS908904" }, { "coordinates": [ { "allele": "GC", "end": 168, "referenceAllele": "AG", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697684.1:n.167_168delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908905" }, { "coordinates": [ { "allele": "GC", "end": 159, "referenceAllele": "AG", "start": 157 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697685.1:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513396.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000513396.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS908906" }, { "coordinates": [ { "allele": "GC", "end": 37, "endIntronDirection": "+", "endIntronOffset": 119, "referenceAllele": "AG", "start": 37, "startIntronDirection": "+", "startIntronOffset": 117 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697686.1:c.-207+118_-207+119delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513397.1:n.-207+118_-207+119delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908907" }, { "coordinates": [ { "allele": "GC", "end": 154, "referenceAllele": "AG", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697687.1:n.153_154delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908908" }, { "coordinates": [ { "allele": "GC", "end": 154, "referenceAllele": "AG", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697688.1:n.153_154delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908909" }, { "coordinates": [ { "allele": "GC", "end": 150, "referenceAllele": "AG", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697689.1:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513398.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000513398.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS908910" }, { "coordinates": [ { "allele": "GC", "end": 150, "referenceAllele": "AG", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697690.1:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513399.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000513399.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS908911" }, { "coordinates": [ { "allele": "GC", "end": 69, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 69, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697691.1:c.42+65_42+66delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513400.1:n.42+65_42+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS908912" }, { "coordinates": [ { "allele": "GC", "end": 120, "referenceAllele": "AG", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697692.1:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000513401.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000513401.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS908913" }, { "coordinates": [ { "allele": "GC", "end": 21, "referenceAllele": "AG", "start": 19 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000697693.1:n.20_21delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS908914" }, { "coordinates": [ { "allele": "GC", "end": 150, "referenceAllele": "AG", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000337432.9:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000336701.4:p.Glu36Gly", "hgvsWellDefined": "ENSP00000336701.4:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS747657", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000337432.9:c.107_108delinsGC" }, "RefSeq": { "hgvs": "NM_058216.3:c.107_108delinsGC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000336701.4:p.Glu36Gly" }, "RefSeq": { "hgvs": "NP_478123.1:p.Glu36Gly" } } } }, { "coordinates": [ { "allele": "GC", "end": 179, "referenceAllele": "AG", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000337432.8:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000336701.4:p.Glu36Gly", "hgvsWellDefined": "ENSP00000336701.4:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS260473" }, { "coordinates": [ { "allele": "GC", "end": 124, "referenceAllele": "AG", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000421782.3:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000391450.2:p.Glu36Gly", "hgvsWellDefined": "ENSP00000391450.2:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS286960" }, { "coordinates": [ { "allele": "GC", "end": 113, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 113, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000461271.5:c.-207+65_-207+66delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000464056.1:n.-207+65_-207+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS305821" }, { "coordinates": [ { "allele": "GC", "end": 150, "referenceAllele": "AG", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000475762.5:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000432421.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000432421.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS316969" }, { "coordinates": [ { "allele": "GC", "end": 150, "referenceAllele": "AG", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000476741.2:n.149_150delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS317719" }, { "coordinates": [ { "allele": "GC", "end": 137, "referenceAllele": "AG", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000482007.5:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000433332.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000433332.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS321806" }, { "coordinates": [ { "allele": "GC", "end": 146, "referenceAllele": "AG", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000486827.1:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000436761.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000436761.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS325537" }, { "coordinates": [ { "allele": "GC", "end": 146, "referenceAllele": "AG", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000487525.5:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000431637.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000431637.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS326071" }, { "coordinates": [ { "allele": "GC", "end": 57, "endIntronDirection": "+", "endIntronOffset": 119, "referenceAllele": "AG", "start": 57, "startIntronDirection": "+", "startIntronOffset": 117 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000487921.5:n.57+118_57+119delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS326367" }, { "coordinates": [ { "allele": "GC", "end": 179, "referenceAllele": "AG", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000583539.5:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "ENSP00000463121.1:p.Glu36Gly", "hgvsWellDefined": "ENSP00000463121.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS387804" }, { "coordinates": [ { "allele": "GC", "end": 89, "referenceAllele": "AG", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "ENST00000584617.5:c.88_89delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS388304" }, { "@id": "http://reg.genome.network/allele/PA2829391997", "coordinates": [ { "allele": "GC", "end": 179, "referenceAllele": "AG", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_002876.3:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "NP_002867.1:p.Glu36Gly", "hgvsWellDefined": "NP_002867.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS028163" }, { "@id": "http://reg.genome.network/allele/PA2830153420", "coordinates": [ { "allele": "GC", "end": 179, "referenceAllele": "AG", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_058216.2:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "NP_478123.1:p.Glu36Gly", "hgvsWellDefined": "NP_478123.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS040100" }, { "coordinates": [ { "allele": "GC", "end": 179, "referenceAllele": "AG", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NR_103872.1:n.178_179delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS053118" }, { "coordinates": [ { "allele": "GC", "end": 113, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 113, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NR_103873.1:n.113+65_113+66delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS053119" }, { "coordinates": [ { "allele": "GC", "end": 181, "referenceAllele": "AG", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722001.2:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "XP_006722064.1:p.Glu36Gly", "hgvsWellDefined": "XP_006722064.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS074366" }, { "coordinates": [ { "allele": "GC", "end": 181, "referenceAllele": "AG", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722002.2:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "XP_006722065.1:p.Glu36Gly", "hgvsWellDefined": "XP_006722065.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS074367" }, { "coordinates": [ { "allele": "GC", "end": 110, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 110, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722004.2:c.-207+65_-207+66delinsGC" ], "proteinEffect": { "hgvs": "XP_006722067.1:n.-207+65_-207+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS074368" }, { "coordinates": [ { "allele": "GC", "end": 97, "endIntronDirection": "+", "endIntronOffset": 119, "referenceAllele": "AG", "start": 97, "startIntronDirection": "+", "startIntronOffset": 117 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722005.2:c.-207+118_-207+119delinsGC" ], "proteinEffect": { "hgvs": "XP_006722068.1:n.-207+118_-207+119delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS074369" }, { "coordinates": [ { "allele": "GC", "end": 96, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 96, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525092.1:c.-507+65_-507+66delinsGC" ], "proteinEffect": { "hgvs": "XP_011523394.1:n.-507+65_-507+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS092211" }, { "coordinates": [ { "allele": "GC", "end": 96, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 96, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525093.1:c.-668+65_-668+66delinsGC" ], "proteinEffect": { "hgvs": "XP_011523395.1:n.-668+65_-668+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS092212" }, { "coordinates": [ { "allele": "GC", "end": 181, "referenceAllele": "AG", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934513.1:n.180_181delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS129822" }, { "coordinates": [ { "allele": "GC", "end": 181, "referenceAllele": "AG", "start": 179 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934514.1:n.180_181delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS129823" }, { "coordinates": [ { "allele": "GC", "end": 612, "referenceAllele": "AG", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722001.4:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "XP_006722064.1:p.Glu36Gly", "hgvsWellDefined": "XP_006722064.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS540440" }, { "coordinates": [ { "allele": "GC", "end": 612, "referenceAllele": "AG", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722002.4:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "XP_006722065.1:p.Glu36Gly", "hgvsWellDefined": "XP_006722065.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS540441" }, { "coordinates": [ { "allele": "GC", "end": 109, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 109, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722004.3:c.-207+65_-207+66delinsGC" ], "proteinEffect": { "hgvs": "XP_006722067.1:n.-207+65_-207+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS540442" }, { "coordinates": [ { "allele": "GC", "end": 95, "endIntronDirection": "+", "endIntronOffset": 119, "referenceAllele": "AG", "start": 95, "startIntronDirection": "+", "startIntronOffset": 117 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_006722005.3:c.-207+118_-207+119delinsGC" ], "proteinEffect": { "hgvs": "XP_006722068.1:n.-207+118_-207+119delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS540443" }, { "coordinates": [ { "allele": "GC", "end": 15, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 15, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525092.2:c.-507+65_-507+66delinsGC" ], "proteinEffect": { "hgvs": "XP_011523394.1:n.-507+65_-507+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS547728" }, { "coordinates": [ { "allele": "GC", "end": 15, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 15, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_011525093.2:c.-668+65_-668+66delinsGC" ], "proteinEffect": { "hgvs": "XP_011523395.1:n.-668+65_-668+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS547729" }, { "coordinates": [ { "allele": "GC", "end": 109, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 109, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024914.1:c.-207+65_-207+66delinsGC" ], "proteinEffect": { "hgvs": "XP_016880403.1:n.-207+65_-207+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS575355" }, { "coordinates": [ { "allele": "GC", "end": 69, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 69, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024916.1:c.-507+65_-507+66delinsGC" ], "proteinEffect": { "hgvs": "XP_016880405.1:n.-507+65_-507+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS575357" }, { "coordinates": [ { "allele": "GC", "end": 94, "endIntronDirection": "+", "endIntronOffset": 119, "referenceAllele": "AG", "start": 94, "startIntronDirection": "+", "startIntronOffset": 117 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024917.1:c.-207+118_-207+119delinsGC" ], "proteinEffect": { "hgvs": "XP_016880406.1:n.-207+118_-207+119delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS575358" }, { "coordinates": [ { "allele": "GC", "end": 119, "referenceAllele": "AG", "start": 117 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024918.2:c.-416_-415delinsGC" ], "proteinEffect": { "hgvs": "XP_016880407.1:n.-416_-415delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS575359" }, { "coordinates": [ { "allele": "GC", "end": 15, "endIntronDirection": "+", "endIntronOffset": 66, "referenceAllele": "AG", "start": 15, "startIntronDirection": "+", "startIntronOffset": 64 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XM_017024919.1:c.-668+65_-668+66delinsGC" ], "proteinEffect": { "hgvs": "XP_016880408.1:n.-668+65_-668+66delinsGC" }, "referenceSequence": "http://reg.genome.network/refseq/RS575360" }, { "coordinates": [ { "allele": "GC", "end": 612, "referenceAllele": "AG", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934513.3:n.611_612delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS610716" }, { "coordinates": [ { "allele": "GC", "end": 612, "referenceAllele": "AG", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "XR_934514.3:n.611_612delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS610717" }, { "@id": "http://reg.genome.network/allele/PA2830153420", "coordinates": [ { "allele": "GC", "end": 150, "referenceAllele": "AG", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_058216.3:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "NP_478123.1:p.Glu36Gly", "hgvsWellDefined": "NP_478123.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS671701", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000337432.9:c.107_108delinsGC" }, "RefSeq": { "hgvs": "NM_058216.3:c.107_108delinsGC" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000336701.4:p.Glu36Gly" }, "RefSeq": { "hgvs": "NP_478123.1:p.Glu36Gly" } } } }, { "coordinates": [ { "allele": "GC", "end": 150, "referenceAllele": "AG", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NR_103872.2:n.149_150delinsGC" ], "referenceSequence": "http://reg.genome.network/refseq/RS702892" }, { "@id": "http://reg.genome.network/allele/PA2829391997", "coordinates": [ { "allele": "GC", "end": 150, "referenceAllele": "AG", "start": 148 } ], "gene": "http://reg.genome.network/gene/GN009820", "geneNCBI_id": 5889, "geneSymbol": "RAD51C", "hgvs": [ "NM_002876.4:c.107_108delinsGC" ], "proteinEffect": { "hgvs": "NP_002867.1:p.Glu36Gly", "hgvsWellDefined": "NP_002867.1:p.Glu36Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS727322" } ], "type": "nucleotide" }