{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16615337", "communityStandardTitle": [ "NM_002878.4(RAD51D):c.185C>A (p.Ser62Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=401935[alleleid]", "alleleId": 401935, "preferredName": "NM_002878.4(RAD51D):c.185C>A (p.Ser62Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410551", "RCV": [ "RCV000467492", "RCV002411492" ], "variationId": 410551 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.33445598G>T?assembly=hg19", "id": "chr17:g.33445598G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.35118579G>T?assembly=hg38", "id": "chr17:g.35118579G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374357106", "rs": 374357106 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 35118579, "referenceAllele": "G", "start": 35118578 } ], "hgvs": [ "NC_000017.11:g.35118579G>T", "CM000679.2:g.35118579G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 33445598, "referenceAllele": "G", "start": 33445597 } ], "hgvs": [ "NC_000017.10:g.33445598G>T", "CM000679.1:g.33445598G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 30469711, "referenceAllele": "G", "start": 30469710 } ], "hgvs": [ "NC_000017.9:g.30469711G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 6291, "referenceAllele": "C", "start": 6290 } ], "hgvs": [ "NG_031858.1:g.6291C>A", "LRG_516:g.6291C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004992" }, { "coordinates": [ { "allele": "T", "end": 2001, "referenceAllele": "G", "start": 2000 } ], "hgvs": [ "NG_054719.1:g.2001G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617490" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000586186.3:c.185C>A" ], "proteinEffect": { "hgvs": "ENSP00000468273.3:p.Ser62Ter", "hgvsWellDefined": "ENSP00000468273.3:p.Ser62_Thr283delinsAlaPheProValAsnGlyAlaAspLeuTyrGluGluLeuLysThrSerThrAlaIleLeuSerThrGlyIleGlySerLeuAspLysLeuLeuAspAlaGlyLeuTyrThrGlyGluValThrGluIleValGlyGlyProGlySerGlyLysThrGlnAlaGluAlaLeuArgArgIleGlnValValHisAlaPheAspIlePheGlnMetLeuAspValLeuGlnGluLeuArgGlyThrValAlaGlnGlnValThrGlySerSerGlyThrValLysValValValValAspSerValThrAlaValValSerProLeuLeuGlyGlyGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914331" }, { "coordinates": [ { "allele": "A", "end": 191, "endIntronDirection": "+", "endIntronOffset": 2712, "referenceAllele": "C", "start": 191, "startIntronDirection": "+", "startIntronOffset": 2711 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000587405.6:c.-95+2712C>A" ], "proteinEffect": { "hgvs": "ENSP00000466478.2:n.-95+2712C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914334" }, { "coordinates": [ { "allele": "A", "end": 391, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 391, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000590016.6:c.144+532C>A" ], "proteinEffect": { "hgvs": "ENSP00000466399.1:n.144+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914341" }, { "coordinates": [ { "allele": "A", "end": 436, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 436, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000590631.2:n.436+532C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS914343" }, { "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000592577.6:c.-173C>A" ], "proteinEffect": { "hgvs": "ENSP00000466839.2:n.-173C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914347" }, { "coordinates": [ { "allele": "A", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000345365.11:c.185C>A" ], "proteinEffect": { "hgvs": "ENSP00000338790.6:p.Ser62Ter", "hgvsWellDefined": "ENSP00000338790.6:p.Ser62_Thr328delinsAlaPheProValAsnGlyAlaAspLeuTyrGluGluLeuLysThrSerThrAlaIleLeuSerThrGlyIleGlySerLeuAspLysLeuLeuAspAlaGlyLeuTyrThrGlyGluValThrGluIleValGlyGlyProGlySerGlyLysThrGlnValCysLeuCysMetAlaAlaAsnValAlaHisGlyLeuGlnGlnAsnValLeuTyrValAspSerAsnGlyGlyLeuThrAlaSerArgLeuLeuGlnLeuLeuGlnAlaLysThrGlnAspGluGluGluGlnAlaGluAlaLeuArgArgIleGlnValValHisAlaPheAspIlePheGlnMetLeuAspValLeuGlnGluLeuArgGlyThrValAlaGlnGlnValThrGlySerSerGlyThrValLysValValValValAspSerValThrAlaValValSerProLeuLeuGlyGlyGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748287", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345365.11:c.185C>A" }, "RefSeq": { "hgvs": "NM_002878.4:c.185C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000338790.6:p.Ser62Ter" }, "RefSeq": { "hgvs": "NP_002869.3:p.Ser62Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 276, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 276, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000335858.11:c.144+532C>A" ], "proteinEffect": { "hgvs": "ENSP00000338408.6:n.144+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS260206" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000345365.10:c.185C>A" ], "proteinEffect": { "hgvs": "ENSP00000338790.6:p.Ser62Ter", "hgvsWellDefined": "ENSP00000338790.6:p.Ser62_Thr328delinsAlaPheProValAsnGlyAlaAspLeuTyrGluGluLeuLysThrSerThrAlaIleLeuSerThrGlyIleGlySerLeuAspLysLeuLeuAspAlaGlyLeuTyrThrGlyGluValThrGluIleValGlyGlyProGlySerGlyLysThrGlnValCysLeuCysMetAlaAlaAsnValAlaHisGlyLeuGlnGlnAsnValLeuTyrValAspSerAsnGlyGlyLeuThrAlaSerArgLeuLeuGlnLeuLeuGlnAlaLysThrGlnAspGluGluGluGlnAlaGluAlaLeuArgArgIleGlnValValHisAlaPheAspIlePheGlnMetLeuAspValLeuGlnGluLeuArgGlyThrValAlaGlnGlnValThrGlySerSerGlyThrValLysValValValValAspSerValThrAlaValValSerProLeuLeuGlyGlyGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262160" }, { "coordinates": [ { "allele": "A", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000394589.8:c.185C>A" ], "proteinEffect": { "hgvs": "ENSP00000378090.4:p.Ser62Ter", "hgvsWellDefined": "ENSP00000378090.4:p.Ser62_Thr328delinsAlaPheProValAsnGlyAlaAspLeuTyrGluGluLeuLysThrSerThrAlaIleLeuSerThrGlyIleGlySerLeuAspLysLeuLeuAspAlaGlyLeuTyrThrGlyGluValThrGluIleValGlyGlyProGlySerGlyLysThrGlnValCysLeuCysMetAlaAlaAsnValAlaHisGlyLeuGlnGlnAsnValLeuTyrValAspSerAsnGlyGlyLeuThrAlaSerArgLeuLeuGlnLeuLeuGlnAlaLysThrGlnAspGluGluGluGlnAlaGluAlaLeuArgArgIleGlnValValHisAlaPheAspIlePheGlnMetLeuAspValLeuGlnGluLeuArgGlyThrValAlaGlnGlnValThrGlySerSerGlyThrValLysValValValValAspSerValThrAlaValValSerProLeuLeuGlyGlyGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276233" }, { "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "C", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000415064.6:n.335C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS283818" }, { "coordinates": [ { "allele": "A", "end": 275, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 275, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000460118.6:c.-208+532C>A" ], "proteinEffect": { "hgvs": "ENSP00000464356.2:n.-208+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS304928" }, { "coordinates": [ { "allele": "A", "end": 88, "referenceAllele": "C", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000585343.5:c.88C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS388662" }, { "coordinates": [ { "allele": "A", "end": 159, "endIntronDirection": "+", "endIntronOffset": 2712, "referenceAllele": "C", "start": 159, "startIntronDirection": "+", "startIntronOffset": 2711 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000585947.5:n.159+2712C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389055" }, { "coordinates": [ { "allele": "A", "end": 239, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 239, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000585982.5:n.239+532C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389084" }, { "coordinates": [ { "allele": "A", "end": 277, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 277, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000586044.5:c.144+532C>A" ], "proteinEffect": { "hgvs": "ENSP00000465584.1:n.144+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS389124" }, { "coordinates": [ { "allele": "A", "end": 88, "referenceAllele": "C", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000586186.2:c.88C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389226" }, { "coordinates": [ { "allele": "A", "end": 288, "referenceAllele": "C", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000586210.5:c.185C>A" ], "proteinEffect": { "hgvs": "ENSP00000465612.1:p.Ser62Ter", "hgvsWellDefined": "ENSP00000465612.1:p.Ser62_Met107delinsAlaPheProValAsnGlyAlaAspLeuTyrGluGluLeuLysThrSerThrAlaIleLeuSerThrGlyIleGlyArgTyrValSerValTrpGlnGlnMetTrpProMetAlaCysSerLysThrSerTyrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS389246" }, { "coordinates": [ { "allele": "A", "end": 159, "endIntronDirection": "+", "endIntronOffset": 2712, "referenceAllele": "C", "start": 159, "startIntronDirection": "+", "startIntronOffset": 2711 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000587405.5:c.-95+2712C>A" ], "proteinEffect": { "hgvs": "ENSP00000466478.1:n.-95+2712C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS390058" }, { "coordinates": [ { "allele": "A", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000587977.5:c.185C>A" ], "proteinEffect": { "hgvs": "ENSP00000466587.1:p.Ser62Ter", "hgvsWellDefined": "ENSP00000466587.1:p.Ser62_Leu118delinsAlaPheProValAsnGlyAlaAspLeuTyrGluGluLeuLysThrSerThrAlaIleLeuSerThrGlyIleGlyArgHisGlyGlyArgThrGlnValGlyThrTrpGluAspCysSerCysLeuArgSerProGlnGlyAspArgGlyValGlySerGlyMetLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS390459" }, { "coordinates": [ { "allele": "A", "end": 191, "endIntronDirection": "+", "endIntronOffset": 2712, "referenceAllele": "C", "start": 191, "startIntronDirection": "+", "startIntronOffset": 2711 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000587982.5:n.191+2712C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS390461" }, { "coordinates": [ { "allele": "A", "end": 207, "endIntronDirection": "+", "endIntronOffset": 2712, "referenceAllele": "C", "start": 207, "startIntronDirection": "+", "startIntronOffset": 2711 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000588372.5:c.-95+2712C>A" ], "proteinEffect": { "hgvs": "ENSP00000468764.1:n.-95+2712C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS390732" }, { "coordinates": [ { "allele": "A", "end": 250, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 250, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000588594.5:c.144+532C>A" ], "proteinEffect": { "hgvs": "ENSP00000465366.1:n.144+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS390887" }, { "coordinates": [ { "allele": "A", "end": 355, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 355, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000589506.1:n.355+532C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS391538" }, { "coordinates": [ { "allele": "A", "end": 344, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 344, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000590016.5:c.144+532C>A" ], "proteinEffect": { "hgvs": "ENSP00000466399.1:n.144+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS391890" }, { "coordinates": [ { "allele": "A", "end": 436, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 436, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000590631.1:c.-52+532C>A" ], "proteinEffect": { "hgvs": "ENSP00000465033.1:n.-52+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS392324" }, { "coordinates": [ { "allele": "A", "end": 159, "endIntronDirection": "+", "endIntronOffset": 2712, "referenceAllele": "C", "start": 159, "startIntronDirection": "+", "startIntronOffset": 2711 } ], "hgvs": [ "ENST00000591723.5:c.-134+2712C>A" ], "proteinEffect": { "hgvs": "ENSP00000467986.1:n.-134+2712C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS393076" }, { "coordinates": [ { "allele": "A", "end": 81, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 81, "startIntronDirection": "+", "startIntronOffset": 531 } ], "hgvs": [ "ENST00000592181.1:c.-95+532C>A" ], "proteinEffect": { "hgvs": "ENSP00000464799.1:n.-95+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS393387" }, { "coordinates": [ { "allele": "A", "end": 232, "endIntronDirection": "+", "endIntronOffset": 2712, "referenceAllele": "C", "start": 232, "startIntronDirection": "+", "startIntronOffset": 2711 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000592430.5:n.232+2712C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393558" }, { "coordinates": [ { "allele": "A", "end": 205, "referenceAllele": "C", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000592577.5:c.191C>A" ], "proteinEffect": { "hgvs": "ENSP00000466839.1:p.Ser64Ter", "hgvsWellDefined": "ENSP00000466839.1:p.Ser64Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS393666" }, { "coordinates": [ { "allele": "A", "end": 88, "referenceAllele": "C", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000592850.5:c.88C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393850" }, { "coordinates": [ { "allele": "A", "end": 88, "referenceAllele": "C", "start": 87 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "ENST00000592928.2:n.88C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS393899" }, { "coordinates": [ { "allele": "A", "end": 203, "endIntronDirection": "+", "endIntronOffset": 2712, "referenceAllele": "C", "start": 203, "startIntronDirection": "+", "startIntronOffset": 2711 } ], "hgvs": [ "ENST00000593039.5:c.3+2712C>A" ], "proteinEffect": { "hgvs": "ENSP00000466834.1:n.3+2712C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS393972" }, { "coordinates": [ { "allele": "A", "end": 400, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 400, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NM_001142571.1:c.144+532C>A" ], "proteinEffect": { "hgvs": "NP_001136043.1:n.144+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS012976" }, { "@id": "http://reg.genome.network/allele/PA645461972", "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NM_002878.3:c.185C>A", "LRG_516t1:c.185C>A" ], "proteinEffect": { "hgvs": "NP_002869.3:p.Ser62Ter", "hgvsWellDefined": "NP_002869.3:p.Ser62_Thr328delinsAlaPheProValAsnGlyAlaAspLeuTyrGluGluLeuLysThrSerThrAlaIleLeuSerThrGlyIleGlySerLeuAspLysLeuLeuAspAlaGlyLeuTyrThrGlyGluValThrGluIleValGlyGlyProGlySerGlyLysThrGlnValCysLeuCysMetAlaAlaAsnValAlaHisGlyLeuGlnGlnAsnValLeuTyrValAspSerAsnGlyGlyLeuThrAlaSerArgLeuLeuGlnLeuLeuGlnAlaLysThrGlnAspGluGluGluGlnAlaGluAlaLeuArgArgIleGlnValValHisAlaPheAspIlePheGlnMetLeuAspValLeuGlnGluLeuArgGlyThrValAlaGlnGlnValThrGlySerSerGlyThrValLysValValValValAspSerValThrAlaValValSerProLeuLeuGlyGlyGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028165" }, { "coordinates": [ { "allele": "A", "end": 400, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 400, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NM_133629.2:c.144+532C>A" ], "proteinEffect": { "hgvs": "NP_598332.1:n.144+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS040568" }, { "coordinates": [ { "allele": "A", "end": 400, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 400, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NR_037711.1:n.400+532C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050107" }, { "coordinates": [ { "allele": "A", "end": 400, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 400, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NR_037712.1:n.400+532C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050108" }, { "coordinates": [ { "allele": "A", "end": 232, "endIntronDirection": "+", "endIntronOffset": 2712, "referenceAllele": "C", "start": 232, "startIntronDirection": "+", "startIntronOffset": 2711 } ], "hgvs": [ "NR_037714.1:n.232+2712C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050110" }, { "coordinates": [ { "allele": "A", "end": 289, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 289, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NM_001142571.2:c.144+532C>A" ], "proteinEffect": { "hgvs": "NP_001136043.1:n.144+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS677571" }, { "coordinates": [ { "allele": "A", "end": 289, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 289, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NM_133629.3:c.144+532C>A" ], "proteinEffect": { "hgvs": "NP_598332.1:n.144+532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS699670" }, { "coordinates": [ { "allele": "A", "end": 289, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 289, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NR_037711.2:n.289+532C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702272" }, { "coordinates": [ { "allele": "A", "end": 289, "endIntronDirection": "+", "endIntronOffset": 532, "referenceAllele": "C", "start": 289, "startIntronDirection": "+", "startIntronOffset": 531 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NR_037712.2:n.289+532C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702273" }, { "@id": "http://reg.genome.network/allele/PA645461972", "coordinates": [ { "allele": "A", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009823", "geneNCBI_id": 5892, "geneSymbol": "RAD51D", "hgvs": [ "NM_002878.4:c.185C>A" ], "proteinEffect": { "hgvs": "NP_002869.3:p.Ser62Ter", "hgvsWellDefined": "NP_002869.3:p.Ser62_Thr328delinsAlaPheProValAsnGlyAlaAspLeuTyrGluGluLeuLysThrSerThrAlaIleLeuSerThrGlyIleGlySerLeuAspLysLeuLeuAspAlaGlyLeuTyrThrGlyGluValThrGluIleValGlyGlyProGlySerGlyLysThrGlnValCysLeuCysMetAlaAlaAsnValAlaHisGlyLeuGlnGlnAsnValLeuTyrValAspSerAsnGlyGlyLeuThrAlaSerArgLeuLeuGlnLeuLeuGlnAlaLysThrGlnAspGluGluGluGlnAlaGluAlaLeuArgArgIleGlnValValHisAlaPheAspIlePheGlnMetLeuAspValLeuGlnGluLeuArgGlyThrValAlaGlnGlnValThrGlySerSerGlyThrValLysValValValValAspSerValThrAlaValValSerProLeuLeuGlyGlyGlnGlnArgGluGlyLeuAlaLeuMetMetGlnLeuAlaArgGluLeuLysThrLeuAlaArgAspLeuGlyMetAlaValValValThrAsnHisIleThrArgAspArgAspSerGlyArgLeuLysProAlaLeuGlyArgSerTrpSerPheValProSerThrArgIleLeuLeuAspThrIleGluGlyAlaGlyAlaSerGlyGlyArgArgMetAlaCysLeuAlaLysSerSerArgGlnProThrGlyPheGlnGluMetValAspIleGlyThrTrpGlyThrSerGluGlnSerAlaThrLeuGlnGlyAspGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727323", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345365.11:c.185C>A" }, "RefSeq": { "hgvs": "NM_002878.4:c.185C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000338790.6:p.Ser62Ter" }, "RefSeq": { "hgvs": "NP_002869.3:p.Ser62Ter" } } } } ], "type": "nucleotide" }