{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA143855", "communityStandardTitle": [ "NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=65575[alleleid]", "alleleId": 65575, "preferredName": "NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50913", "RCV": [ "RCV000043628" ], "variationId": 50913 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5754726A>T?assembly=hg19", "id": "chr7:g.5754726A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5715095A>T?assembly=hg38", "id": "chr7:g.5715095A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387907369", "rs": 387907369 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-5715095-A-T?dataset=gnomad_r4", "id": "7-5715095-A-T", "variant": "7:5715095 A / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 5715095, "referenceAllele": "A", "start": 5715094 } ], "hgvs": [ "NC_000007.14:g.5715095A>T", "CM000669.2:g.5715095A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 5754726, "referenceAllele": "A", "start": 5754725 } ], "hgvs": [ "NC_000007.13:g.5754726A>T", "CM000669.1:g.5754726A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 5721252, "referenceAllele": "A", "start": 5721251 } ], "hgvs": [ "NC_000007.12:g.5721252A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 71636, "referenceAllele": "T", "start": 71635 } ], "hgvs": [ "NG_029374.1:g.71636T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004356" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1983, "referenceAllele": "T", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389902.8:c.1791T>A" ], "proteinEffect": { "hgvs": "ENSP00000374552.3:p.Cys597Ter", "hgvsWellDefined": "ENSP00000374552.3:p.Cys597_Phe923delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389902.8:c.1791T>A" }, "RefSeq": { "hgvs": "NM_207111.4:c.1791T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374552.3:p.Cys597Ter" }, "RefSeq": { "hgvs": "NP_996994.1:p.Cys597Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1958, "referenceAllele": "T", "start": 1957 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389900.8:c.*908T>A" ], "proteinEffect": { "hgvs": "ENSP00000374550.4:n.*908T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS274314" }, { "coordinates": [ { "allele": "A", "end": 2059, "referenceAllele": "T", "start": 2058 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389902.7:c.1791T>A" ], "proteinEffect": { "hgvs": "ENSP00000374552.3:p.Cys597Ter", "hgvsWellDefined": "ENSP00000374552.3:p.Cys597_Phe923delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274315" }, { "coordinates": [ { "allele": "A", "end": 1845, "referenceAllele": "T", "start": 1844 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000425013.6:c.1620T>A" ], "proteinEffect": { "hgvs": "ENSP00000404602.2:p.Cys540Ter", "hgvsWellDefined": "ENSP00000404602.2:p.Cys540_Phe866delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288553" }, { "@id": "http://reg.genome.network/allele/PA143856", "coordinates": [ { "allele": "A", "end": 2050, "referenceAllele": "T", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207111.3:c.1791T>A" ], "proteinEffect": { "hgvs": "NP_996994.1:p.Cys597Ter", "hgvsWellDefined": "NP_996994.1:p.Cys597_Phe923delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045392" }, { "@id": "http://reg.genome.network/allele/PA2830526486", "coordinates": [ { "allele": "A", "end": 1879, "referenceAllele": "T", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207116.2:c.1620T>A" ], "proteinEffect": { "hgvs": "NP_996999.1:p.Cys540Ter", "hgvsWellDefined": "NP_996999.1:p.Cys540_Phe866delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045395" }, { "coordinates": [ { "allele": "A", "end": 2370, "referenceAllele": "T", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_005249785.2:c.1791T>A" ], "proteinEffect": { "hgvs": "XP_005249842.1:p.Cys597Ter", "hgvsWellDefined": "XP_005249842.1:p.Cys597_Phe923delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058940" }, { "coordinates": [ { "allele": "A", "end": 1793, "referenceAllele": "T", "start": 1792 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_006715748.1:c.486T>A" ], "proteinEffect": { "hgvs": "XP_006715811.1:p.Cys162Ter", "hgvsWellDefined": "XP_006715811.1:p.Cys162_Phe488delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071333" }, { "coordinates": [ { "allele": "A", "end": 2138, "referenceAllele": "T", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515434.1:c.1791T>A" ], "proteinEffect": { "hgvs": "XP_011513736.1:p.Cys597Ter", "hgvsWellDefined": "XP_011513736.1:p.Cys597_Phe923delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082654" }, { "coordinates": [ { "allele": "A", "end": 2023, "referenceAllele": "T", "start": 2022 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515435.1:c.1791T>A" ], "proteinEffect": { "hgvs": "XP_011513737.1:p.Cys597Ter", "hgvsWellDefined": "XP_011513737.1:p.Cys597_Ala722delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysArgTyrGlnArgIleSerLysThrLysThrTrpIleLysArgGlyGlnSerPheSerThrLeuLeuCysValGlyIleArgAspLeuValArgCysAsnSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082655" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "T", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515436.1:c.486T>A" ], "proteinEffect": { "hgvs": "XP_011513738.1:p.Cys162Ter", "hgvsWellDefined": "XP_011513738.1:p.Cys162_Phe488delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082656" }, { "coordinates": [ { "allele": "A", "end": 1883, "referenceAllele": "T", "start": 1882 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XR_242090.1:n.1883T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116199" }, { "coordinates": [ { "allele": "A", "end": 2076, "referenceAllele": "T", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515436.2:c.486T>A" ], "proteinEffect": { "hgvs": "XP_011513738.1:p.Cys162Ter", "hgvsWellDefined": "XP_011513738.1:p.Cys162_Phe488delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS543750" }, { "coordinates": [ { "allele": "A", "end": 1874, "referenceAllele": "T", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_017012363.2:c.1620T>A" ], "proteinEffect": { "hgvs": "XP_016867852.1:p.Cys540Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565987" }, { "coordinates": [ { "allele": "A", "end": 2041, "referenceAllele": "T", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_017012364.2:c.1791T>A" ], "proteinEffect": { "hgvs": "XP_016867853.1:p.Cys597Ter", "hgvsWellDefined": "XP_016867853.1:p.Cys597_Met720delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565988" }, { "coordinates": [ { "allele": "A", "end": 2046, "referenceAllele": "T", "start": 2045 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446805.1:c.1791T>A" ], "proteinEffect": { "hgvs": "XP_024302573.1:p.Cys597Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580455" }, { "coordinates": [ { "allele": "A", "end": 2251, "referenceAllele": "T", "start": 2250 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446806.1:c.486T>A" ], "proteinEffect": { "hgvs": "XP_024302574.1:p.Cys162Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580456" }, { "coordinates": [ { "allele": "A", "end": 2108, "referenceAllele": "T", "start": 2107 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446807.1:c.486T>A" ], "proteinEffect": { "hgvs": "XP_024302575.1:p.Cys162Ter", "hgvsWellDefined": "XP_024302575.1:p.Cys162_Phe488delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580457" }, { "coordinates": [ { "allele": "A", "end": 1857, "referenceAllele": "T", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_001377156.1:c.1620T>A" ], "proteinEffect": { "hgvs": "NP_001364085.1:p.Cys540Ter", "hgvsWellDefined": "NP_001364085.1:p.Cys540_Phe866delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694948" }, { "@id": "http://reg.genome.network/allele/PA143856", "coordinates": [ { "allele": "A", "end": 1983, "referenceAllele": "T", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207111.4:c.1791T>A" ], "proteinEffect": { "hgvs": "NP_996994.1:p.Cys597Ter", "hgvsWellDefined": "NP_996994.1:p.Cys597_Phe923delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389902.8:c.1791T>A" }, "RefSeq": { "hgvs": "NM_207111.4:c.1791T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374552.3:p.Cys597Ter" }, "RefSeq": { "hgvs": "NP_996994.1:p.Cys597Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830526486", "coordinates": [ { "allele": "A", "end": 1812, "referenceAllele": "T", "start": 1811 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207116.3:c.1620T>A" ], "proteinEffect": { "hgvs": "NP_996999.1:p.Cys540Ter", "hgvsWellDefined": "NP_996999.1:p.Cys540_Phe866delinsLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701730" } ], "type": "nucleotide" }