{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA366732717", "communityStandardTitle": [ "NM_207111.4(RNF216):c.986G>A (p.Trp329Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2418159[alleleid]", "alleleId": 2418159, "preferredName": "NM_207111.4(RNF216):c.986G>A (p.Trp329Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2444427", "RCV": [ "RCV003153225" ], "variationId": 2444427 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5780662C>T?assembly=hg19", "id": "chr7:g.5780662C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5741031C>T?assembly=hg38", "id": "chr7:g.5741031C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1419567670", "rs": 1419567670 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 5741031, "referenceAllele": "C", "start": 5741030 } ], "hgvs": [ "NC_000007.14:g.5741031C>T", "CM000669.2:g.5741031C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 5780662, "referenceAllele": "C", "start": 5780661 } ], "hgvs": [ "NC_000007.13:g.5780662C>T", "CM000669.1:g.5780662C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 5747188, "referenceAllele": "C", "start": 5747187 } ], "hgvs": [ "NC_000007.12:g.5747188C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 45700, "referenceAllele": "G", "start": 45699 } ], "hgvs": [ "NG_029374.1:g.45700G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004356" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1178, "referenceAllele": "G", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389902.8:c.986G>A" ], "proteinEffect": { "hgvs": "ENSP00000374552.3:p.Trp329Ter", "hgvsWellDefined": "ENSP00000374552.3:p.Trp329_Phe923delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389902.8:c.986G>A" }, "RefSeq": { "hgvs": "NM_207111.4:c.986G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374552.3:p.Trp329Ter" }, "RefSeq": { "hgvs": "NP_996994.1:p.Trp329Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "G", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389900.8:c.815G>A" ], "proteinEffect": { "hgvs": "ENSP00000374550.4:p.Trp272Ter", "hgvsWellDefined": "ENSP00000374550.4:p.Trp272_Arg326delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrArgCysSerIlePheValGluAlaMetLysAsnGlySerValLysTrpGlyGlnArgThrArgSerLeuLysThrPheLeuAspLeuIlePheTyrValAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274314" }, { "coordinates": [ { "allele": "A", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389902.7:c.986G>A" ], "proteinEffect": { "hgvs": "ENSP00000374552.3:p.Trp329Ter", "hgvsWellDefined": "ENSP00000374552.3:p.Trp329_Phe923delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274315" }, { "coordinates": [ { "allele": "A", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000425013.6:c.815G>A" ], "proteinEffect": { "hgvs": "ENSP00000404602.2:p.Trp272Ter", "hgvsWellDefined": "ENSP00000404602.2:p.Trp272_Phe866delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288553" }, { "@id": "http://reg.genome.network/allele/PA2580569824", "coordinates": [ { "allele": "A", "end": 1245, "referenceAllele": "G", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207111.3:c.986G>A" ], "proteinEffect": { "hgvs": "NP_996994.1:p.Trp329Ter", "hgvsWellDefined": "NP_996994.1:p.Trp329_Phe923delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045392" }, { "@id": "http://reg.genome.network/allele/PA2830526399", "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "G", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207116.2:c.815G>A" ], "proteinEffect": { "hgvs": "NP_996999.1:p.Trp272Ter", "hgvsWellDefined": "NP_996999.1:p.Trp272_Phe866delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045395" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "G", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_005249785.2:c.986G>A" ], "proteinEffect": { "hgvs": "XP_005249842.1:p.Trp329Ter", "hgvsWellDefined": "XP_005249842.1:p.Trp329_Phe923delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058940" }, { "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "G", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_006715748.1:c.-593G>A" ], "proteinEffect": { "hgvs": "XP_006715811.1:n.-593G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS071333" }, { "coordinates": [ { "allele": "A", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515434.1:c.986G>A" ], "proteinEffect": { "hgvs": "XP_011513736.1:p.Trp329Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS082654" }, { "coordinates": [ { "allele": "A", "end": 1218, "referenceAllele": "G", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515435.1:c.986G>A" ], "proteinEffect": { "hgvs": "XP_011513737.1:p.Trp329Ter", "hgvsWellDefined": "XP_011513737.1:p.Trp329_Ala722delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysArgTyrGlnArgIleSerLysThrLysThrTrpIleLysArgGlyGlnSerPheSerThrLeuLeuCysValGlyIleArgAspLeuValArgCysAsnSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082655" }, { "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "G", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515436.1:c.-589G>A" ], "proteinEffect": { "hgvs": "XP_011513738.1:n.-589G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS082656" }, { "coordinates": [ { "allele": "A", "end": 1218, "referenceAllele": "G", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XR_242090.1:n.1218G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116199" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515436.2:c.-589G>A" ], "proteinEffect": { "hgvs": "XP_011513738.1:n.-589G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS543750" }, { "coordinates": [ { "allele": "A", "end": 1069, "referenceAllele": "G", "start": 1068 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_017012363.2:c.815G>A" ], "proteinEffect": { "hgvs": "XP_016867852.1:p.Trp272Ter", "hgvsWellDefined": "XP_016867852.1:p.Trp272_Phe866delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565987" }, { "coordinates": [ { "allele": "A", "end": 1236, "referenceAllele": "G", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_017012364.2:c.986G>A" ], "proteinEffect": { "hgvs": "XP_016867853.1:p.Trp329Ter", "hgvsWellDefined": "XP_016867853.1:p.Trp329_Met720delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565988" }, { "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "G", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446805.1:c.986G>A" ], "proteinEffect": { "hgvs": "XP_024302573.1:p.Trp329Ter", "hgvsWellDefined": "XP_024302573.1:p.Trp329_Phe923delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580455" }, { "coordinates": [ { "allele": "A", "end": 1173, "referenceAllele": "G", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446806.1:c.-593G>A" ], "proteinEffect": { "hgvs": "XP_024302574.1:n.-593G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580456" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "G", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446807.1:c.-593G>A" ], "proteinEffect": { "hgvs": "XP_024302575.1:n.-593G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580457" }, { "@id": "http://reg.genome.network/allele/PA2828693367", "coordinates": [ { "allele": "A", "end": 1052, "referenceAllele": "G", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_001377156.1:c.815G>A" ], "proteinEffect": { "hgvs": "NP_001364085.1:p.Trp272Ter", "hgvsWellDefined": "NP_001364085.1:p.Trp272_Phe866delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694948" }, { "@id": "http://reg.genome.network/allele/PA2580569824", "coordinates": [ { "allele": "A", "end": 1178, "referenceAllele": "G", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207111.4:c.986G>A" ], "proteinEffect": { "hgvs": "NP_996994.1:p.Trp329Ter", "hgvsWellDefined": "NP_996994.1:p.Trp329_Phe923delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389902.8:c.986G>A" }, "RefSeq": { "hgvs": "NM_207111.4:c.986G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374552.3:p.Trp329Ter" }, "RefSeq": { "hgvs": "NP_996994.1:p.Trp329Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830526399", "coordinates": [ { "allele": "A", "end": 1007, "referenceAllele": "G", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207116.3:c.815G>A" ], "proteinEffect": { "hgvs": "NP_996999.1:p.Trp272Ter", "hgvsWellDefined": "NP_996999.1:p.Trp272_Phe866delinsGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701730" } ], "type": "nucleotide" }