{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3273052416", "communityStandardTitle": [ "NM_000465.4(BARD1):c.2251_2253delinsGGT (p.Arg751Gly)" ], "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "ACC", "end": 214728759, "referenceAllele": "CCG", "start": 214728756 } ], "hgvs": [ "NC_000002.12:g.214728757_214728759delinsACC", "CM000664.2:g.214728757_214728759delinsACC" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "ACC", "end": 215593483, "referenceAllele": "CCG", "start": 215593480 } ], "hgvs": [ "NC_000002.11:g.215593481_215593483delinsACC", "CM000664.1:g.215593481_215593483delinsACC" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "ACC", "end": 215301728, "referenceAllele": "CCG", "start": 215301725 } ], "hgvs": [ "NC_000002.10:g.215301726_215301728delinsACC" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "GGT", "end": 85948, "referenceAllele": "CGG", "start": 85945 } ], "hgvs": [ "NG_012047.2:g.85946_85948delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS002133" }, { "coordinates": [ { "allele": "GGT", "end": 85955, "referenceAllele": "CGG", "start": 85952 } ], "hgvs": [ "NG_012047.3:g.85953_85955delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS706107" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "GGT", "end": 2367, "referenceAllele": "CGG", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000260947.9:c.2251_2253delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000260947.4:p.Arg751Gly", "hgvsWellDefined": "ENSP00000260947.4:p.Arg751Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS742071", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000260947.9:c.2251_2253delinsGGT" }, "RefSeq": { "hgvs": "NM_000465.4:c.2251_2253delinsGGT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000260947.4:p.Arg751Gly" }, "RefSeq": { "hgvs": "NP_000456.2:p.Arg751Gly" } } } }, { "coordinates": [ { "allele": "GGT", "end": 928, "referenceAllele": "CGG", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000421162.2:c.898_900delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000392245.2:p.Arg300Gly", "hgvsWellDefined": "ENSP00000392245.2:p.Arg300Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS754871" }, { "coordinates": [ { "allele": "GGT", "end": 622, "referenceAllele": "CGG", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000613192.2:c.*314_*316delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000483275.2:n.*314_*316delinsGGT" }, "referenceSequence": "http://reg.genome.network/refseq/RS761913" }, { "coordinates": [ { "allele": "GGT", "end": 916, "referenceAllele": "CGG", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000613374.5:c.841_843delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000484464.1:p.Arg281Gly", "hgvsWellDefined": "ENSP00000484464.1:p.Arg281Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS761918" }, { "coordinates": [ { "allele": "GGT", "end": 1959, "referenceAllele": "CGG", "start": 1956 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000613706.5:c.1843_1845delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000484976.2:p.Arg615Gly", "hgvsWellDefined": "ENSP00000484976.2:p.Arg615Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS761932" }, { "coordinates": [ { "allele": "GGT", "end": 2269, "referenceAllele": "CGG", "start": 2266 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000617164.5:c.2194_2196delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000480470.1:p.Arg732Gly", "hgvsWellDefined": "ENSP00000480470.1:p.Arg732Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762100" }, { "coordinates": [ { "allele": "GGT", "end": 742, "referenceAllele": "CGG", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000619009.5:c.712_714delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000482293.1:p.Arg238Gly", "hgvsWellDefined": "ENSP00000482293.1:p.Arg238Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762210" }, { "coordinates": [ { "allele": "GGT", "end": 3628, "referenceAllele": "CGG", "start": 3625 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000650978.1:c.3626_3628delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS771403" }, { "coordinates": [ { "allele": "GGT", "end": 2388, "referenceAllele": "CGG", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000260947.8:c.2251_2253delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000260947.4:p.Arg751Gly", "hgvsWellDefined": "ENSP00000260947.4:p.Arg751Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS250644" }, { "coordinates": [ { "allele": "GGT", "end": 396, "referenceAllele": "CGG", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000432456.5:c.394_396delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS292094" }, { "coordinates": [ { "allele": "GGT", "end": 2208, "referenceAllele": "CGG", "start": 2205 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000455743.5:c.*1871_*1873delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000412186.1:n.*1871_*1873delinsGGT" }, "referenceSequence": "http://reg.genome.network/refseq/RS303186" }, { "coordinates": [ { "allele": "GGT", "end": 588, "referenceAllele": "CGG", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000471590.5:n.586_588delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS313754" }, { "coordinates": [ { "allele": "GGT", "end": 622, "referenceAllele": "CGG", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000613192.1:c.421_423delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000483275.1:p.Arg141Gly", "hgvsWellDefined": "ENSP00000483275.1:p.Arg141Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS401636" }, { "coordinates": [ { "allele": "GGT", "end": 985, "referenceAllele": "CGG", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000613374.4:c.841_843delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000484464.1:p.Arg281Gly", "hgvsWellDefined": "ENSP00000484464.1:p.Arg281Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS401716" }, { "coordinates": [ { "allele": "GGT", "end": 1042, "referenceAllele": "CGG", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000613706.4:c.898_900delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000484976.1:p.Arg300Gly", "hgvsWellDefined": "ENSP00000484976.1:p.Arg300Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS401865" }, { "coordinates": [ { "allele": "GGT", "end": 2338, "referenceAllele": "CGG", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000617164.4:c.2194_2196delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000480470.1:p.Arg732Gly", "hgvsWellDefined": "ENSP00000480470.1:p.Arg732Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS403362" }, { "coordinates": [ { "allele": "GGT", "end": 856, "referenceAllele": "CGG", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000619009.4:c.712_714delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000482293.1:p.Arg238Gly", "hgvsWellDefined": "ENSP00000482293.1:p.Arg238Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS404187" }, { "coordinates": [ { "allele": "GGT", "end": 1376, "referenceAllele": "CGG", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000620057.4:c.*917_*919delinsGGT" ], "proteinEffect": { "hgvs": "ENSP00000481988.1:n.*917_*919delinsGGT" }, "referenceSequence": "http://reg.genome.network/refseq/RS404652" }, { "@id": "http://reg.genome.network/allele/PA3066533083", "coordinates": [ { "allele": "GGT", "end": 2395, "referenceAllele": "CGG", "start": 2392 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_000465.3:c.2251_2253delinsGGT" ], "proteinEffect": { "hgvs": "NP_000456.2:p.Arg751Gly", "hgvsWellDefined": "NP_000456.2:p.Arg751Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006526" }, { "coordinates": [ { "allele": "GGT", "end": 2338, "referenceAllele": "CGG", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282543.1:c.2194_2196delinsGGT" ], "proteinEffect": { "hgvs": "NP_001269472.1:p.Arg732Gly", "hgvsWellDefined": "NP_001269472.1:p.Arg732Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022030" }, { "coordinates": [ { "allele": "GGT", "end": 1042, "referenceAllele": "CGG", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282545.1:c.898_900delinsGGT" ], "proteinEffect": { "hgvs": "NP_001269474.1:p.Arg300Gly", "hgvsWellDefined": "NP_001269474.1:p.Arg300Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022032" }, { "coordinates": [ { "allele": "GGT", "end": 985, "referenceAllele": "CGG", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282548.1:c.841_843delinsGGT" ], "proteinEffect": { "hgvs": "NP_001269477.1:p.Arg281Gly", "hgvsWellDefined": "NP_001269477.1:p.Arg281Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022035" }, { "coordinates": [ { "allele": "GGT", "end": 856, "referenceAllele": "CGG", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282549.1:c.712_714delinsGGT" ], "proteinEffect": { "hgvs": "NP_001269478.1:p.Arg238Gly", "hgvsWellDefined": "NP_001269478.1:p.Arg238Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS022036" }, { "coordinates": [ { "allele": "GGT", "end": 2246, "referenceAllele": "CGG", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104212.1:n.2244_2246delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS053302" }, { "coordinates": [ { "allele": "GGT", "end": 2189, "referenceAllele": "CGG", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104215.1:n.2187_2189delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS053305" }, { "coordinates": [ { "allele": "GGT", "end": 1445, "referenceAllele": "CGG", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104216.1:n.1443_1445delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS053306" }, { "coordinates": [ { "allele": "GGT", "end": 2475, "referenceAllele": "CGG", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_011511567.1:c.2197_2199delinsGGT" ], "proteinEffect": { "hgvs": "XP_011509869.1:p.Arg733Gly", "hgvsWellDefined": "XP_011509869.1:p.Arg733Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS078828" }, { "coordinates": [ { "allele": "GGT", "end": 2443, "referenceAllele": "CGG", "start": 2440 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_017004613.1:c.2350_2352delinsGGT" ], "proteinEffect": { "hgvs": "XP_016860102.1:p.Arg784Gly", "hgvsWellDefined": "XP_016860102.1:p.Arg784Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS560077" }, { "coordinates": [ { "allele": "GGT", "end": 2619, "referenceAllele": "CGG", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XR_002959322.1:n.2617_2619delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS605255" }, { "@id": "http://reg.genome.network/allele/PA3066533083", "coordinates": [ { "allele": "GGT", "end": 2367, "referenceAllele": "CGG", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_000465.4:c.2251_2253delinsGGT" ], "proteinEffect": { "hgvs": "NP_000456.2:p.Arg751Gly", "hgvsWellDefined": "NP_000456.2:p.Arg751Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS662452", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000260947.9:c.2251_2253delinsGGT" }, "RefSeq": { "hgvs": "NM_000465.4:c.2251_2253delinsGGT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000260947.4:p.Arg751Gly" }, "RefSeq": { "hgvs": "NP_000456.2:p.Arg751Gly" } } } }, { "coordinates": [ { "allele": "GGT", "end": 2310, "referenceAllele": "CGG", "start": 2307 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282543.2:c.2194_2196delinsGGT" ], "proteinEffect": { "hgvs": "NP_001269472.1:p.Arg732Gly", "hgvsWellDefined": "NP_001269472.1:p.Arg732Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS681812" }, { "coordinates": [ { "allele": "GGT", "end": 1014, "referenceAllele": "CGG", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282545.2:c.898_900delinsGGT" ], "proteinEffect": { "hgvs": "NP_001269474.1:p.Arg300Gly", "hgvsWellDefined": "NP_001269474.1:p.Arg300Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS681814" }, { "coordinates": [ { "allele": "GGT", "end": 957, "referenceAllele": "CGG", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282548.2:c.841_843delinsGGT" ], "proteinEffect": { "hgvs": "NP_001269477.1:p.Arg281Gly", "hgvsWellDefined": "NP_001269477.1:p.Arg281Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS681817" }, { "coordinates": [ { "allele": "GGT", "end": 828, "referenceAllele": "CGG", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282549.2:c.712_714delinsGGT" ], "proteinEffect": { "hgvs": "NP_001269478.1:p.Arg238Gly", "hgvsWellDefined": "NP_001269478.1:p.Arg238Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS681818" }, { "coordinates": [ { "allele": "GGT", "end": 2218, "referenceAllele": "CGG", "start": 2215 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104212.2:n.2216_2218delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS702953" }, { "coordinates": [ { "allele": "GGT", "end": 2161, "referenceAllele": "CGG", "start": 2158 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104215.2:n.2159_2161delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS702955" }, { "coordinates": [ { "allele": "GGT", "end": 1417, "referenceAllele": "CGG", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104216.2:n.1415_1417delinsGGT" ], "referenceSequence": "http://reg.genome.network/refseq/RS702956" } ], "type": "nucleotide" }