{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA366732693", "communityStandardTitle": [ "NM_207111.4(RNF216):c.991C>T (p.Gln331Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1861062[alleleid]", "alleleId": 1861062, "preferredName": "NM_207111.4(RNF216):c.991C>T (p.Gln331Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1804037", "RCV": [ "RCV002468775" ], "variationId": 1804037 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5780657G>A?assembly=hg19", "id": "chr7:g.5780657G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5741026G>A?assembly=hg38", "id": "chr7:g.5741026G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2534249263", "rs": 2534249263 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 5741026, "referenceAllele": "G", "start": 5741025 } ], "hgvs": [ "NC_000007.14:g.5741026G>A", "CM000669.2:g.5741026G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 5780657, "referenceAllele": "G", "start": 5780656 } ], "hgvs": [ "NC_000007.13:g.5780657G>A", "CM000669.1:g.5780657G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 5747183, "referenceAllele": "G", "start": 5747182 } ], "hgvs": [ "NC_000007.12:g.5747183G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 45705, "referenceAllele": "C", "start": 45704 } ], "hgvs": [ "NG_029374.1:g.45705C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004356" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1183, "referenceAllele": "C", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389902.8:c.991C>T" ], "proteinEffect": { "hgvs": "ENSP00000374552.3:p.Gln331Ter", "hgvsWellDefined": "ENSP00000374552.3:p.Gln331_Phe923delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389902.8:c.991C>T" }, "RefSeq": { "hgvs": "NM_207111.4:c.991C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374552.3:p.Gln331Ter" }, "RefSeq": { "hgvs": "NP_996994.1:p.Gln331Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389900.8:c.820C>T" ], "proteinEffect": { "hgvs": "ENSP00000374550.4:p.Gln274Ter", "hgvsWellDefined": "ENSP00000374550.4:p.Gln274_Arg326delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrArgCysSerIlePheValGluAlaMetLysAsnGlySerValLysTrpGlyGlnArgThrArgSerLeuLysThrPheLeuAspLeuIlePheTyrValAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274314" }, { "coordinates": [ { "allele": "T", "end": 1259, "referenceAllele": "C", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389902.7:c.991C>T" ], "proteinEffect": { "hgvs": "ENSP00000374552.3:p.Gln331Ter", "hgvsWellDefined": "ENSP00000374552.3:p.Gln331_Phe923delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274315" }, { "coordinates": [ { "allele": "T", "end": 1045, "referenceAllele": "C", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000425013.6:c.820C>T" ], "proteinEffect": { "hgvs": "ENSP00000404602.2:p.Gln274Ter", "hgvsWellDefined": "ENSP00000404602.2:p.Gln274_Phe866delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288553" }, { "@id": "http://reg.genome.network/allele/PA2580569830", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207111.3:c.991C>T" ], "proteinEffect": { "hgvs": "NP_996994.1:p.Gln331Ter", "hgvsWellDefined": "NP_996994.1:p.Gln331_Phe923delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045392" }, { "@id": "http://reg.genome.network/allele/PA2830526405", "coordinates": [ { "allele": "T", "end": 1079, "referenceAllele": "C", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207116.2:c.820C>T" ], "proteinEffect": { "hgvs": "NP_996999.1:p.Gln274Ter", "hgvsWellDefined": "NP_996999.1:p.Gln274_Phe866delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045395" }, { "coordinates": [ { "allele": "T", "end": 1570, "referenceAllele": "C", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_005249785.2:c.991C>T" ], "proteinEffect": { "hgvs": "XP_005249842.1:p.Gln331Ter", "hgvsWellDefined": "XP_005249842.1:p.Gln331_Phe923delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058940" }, { "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_006715748.1:c.-588C>T" ], "proteinEffect": { "hgvs": "XP_006715811.1:n.-588C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS071333" }, { "coordinates": [ { "allele": "T", "end": 1338, "referenceAllele": "C", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515434.1:c.991C>T" ], "proteinEffect": { "hgvs": "XP_011513736.1:p.Gln331Ter", "hgvsWellDefined": "XP_011513736.1:p.Gln331_Phe923delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082654" }, { "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515435.1:c.991C>T" ], "proteinEffect": { "hgvs": "XP_011513737.1:p.Gln331Ter", "hgvsWellDefined": "XP_011513737.1:p.Gln331_Ala722delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysArgTyrGlnArgIleSerLysThrLysThrTrpIleLysArgGlyGlnSerPheSerThrLeuLeuCysValGlyIleArgAspLeuValArgCysAsnSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082655" }, { "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515436.1:c.-584C>T" ], "proteinEffect": { "hgvs": "XP_011513738.1:n.-584C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS082656" }, { "coordinates": [ { "allele": "T", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XR_242090.1:n.1223C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116199" }, { "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515436.2:c.-584C>T" ], "proteinEffect": { "hgvs": "XP_011513738.1:n.-584C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS543750" }, { "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_017012363.2:c.820C>T" ], "proteinEffect": { "hgvs": "XP_016867852.1:p.Gln274Ter", "hgvsWellDefined": "XP_016867852.1:p.Gln274_Phe866delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565987" }, { "coordinates": [ { "allele": "T", "end": 1241, "referenceAllele": "C", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_017012364.2:c.991C>T" ], "proteinEffect": { "hgvs": "XP_016867853.1:p.Gln331Ter", "hgvsWellDefined": "XP_016867853.1:p.Gln331_Met720delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565988" }, { "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "C", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446805.1:c.991C>T" ], "proteinEffect": { "hgvs": "XP_024302573.1:p.Gln331Ter", "hgvsWellDefined": "XP_024302573.1:p.Gln331_Phe923delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580455" }, { "coordinates": [ { "allele": "T", "end": 1178, "referenceAllele": "C", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446806.1:c.-588C>T" ], "proteinEffect": { "hgvs": "XP_024302574.1:n.-588C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580456" }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "C", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446807.1:c.-588C>T" ], "proteinEffect": { "hgvs": "XP_024302575.1:n.-588C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580457" }, { "@id": "http://reg.genome.network/allele/PA2828693369", "coordinates": [ { "allele": "T", "end": 1057, "referenceAllele": "C", "start": 1056 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_001377156.1:c.820C>T" ], "proteinEffect": { "hgvs": "NP_001364085.1:p.Gln274Ter", "hgvsWellDefined": "NP_001364085.1:p.Gln274_Phe866delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694948" }, { "@id": "http://reg.genome.network/allele/PA2580569830", "coordinates": [ { "allele": "T", "end": 1183, "referenceAllele": "C", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207111.4:c.991C>T" ], "proteinEffect": { "hgvs": "NP_996994.1:p.Gln331Ter", "hgvsWellDefined": "NP_996994.1:p.Gln331_Phe923delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389902.8:c.991C>T" }, "RefSeq": { "hgvs": "NM_207111.4:c.991C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374552.3:p.Gln331Ter" }, "RefSeq": { "hgvs": "NP_996994.1:p.Gln331Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830526405", "coordinates": [ { "allele": "T", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207116.3:c.820C>T" ], "proteinEffect": { "hgvs": "NP_996999.1:p.Gln274Ter", "hgvsWellDefined": "NP_996999.1:p.Gln274_Phe866delinsGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701730" } ], "type": "nucleotide" }