{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA203832", "communityStandardTitle": [ "NM_207111.4(RNF216):c.904C>T (p.Gln302Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196433[alleleid]", "alleleId": 196433, "preferredName": "NM_207111.4(RNF216):c.904C>T (p.Gln302Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199655", "RCV": [ "RCV000180794" ], "variationId": 199655 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5780744G>A?assembly=hg19", "id": "chr7:g.5780744G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5741113G>A?assembly=hg38", "id": "chr7:g.5741113G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/373785974", "rs": 373785974 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 5741113, "referenceAllele": "G", "start": 5741112 } ], "hgvs": [ "NC_000007.14:g.5741113G>A", "CM000669.2:g.5741113G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 5780744, "referenceAllele": "G", "start": 5780743 } ], "hgvs": [ "NC_000007.13:g.5780744G>A", "CM000669.1:g.5780744G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 5747270, "referenceAllele": "G", "start": 5747269 } ], "hgvs": [ "NC_000007.12:g.5747270G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 45618, "referenceAllele": "C", "start": 45617 } ], "hgvs": [ "NG_029374.1:g.45618C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004356" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389902.8:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000374552.3:p.Gln302Ter", "hgvsWellDefined": "ENSP00000374552.3:p.Gln303_Phe923delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752849", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389902.8:c.904C>T" }, "RefSeq": { "hgvs": "NM_207111.4:c.904C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374552.3:p.Gln302Ter" }, "RefSeq": { "hgvs": "NP_996994.1:p.Gln302Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389900.8:c.733C>T" ], "proteinEffect": { "hgvs": "ENSP00000374550.4:p.Gln245Ter", "hgvsWellDefined": "ENSP00000374550.4:p.Gln246_Arg326delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrArgCysSerIlePheValGluAlaMetLysAsnGlySerValLysTrpGlyGlnArgThrArgSerLeuLysThrPheLeuAspLeuIlePheTyrValAspArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274314" }, { "coordinates": [ { "allele": "T", "end": 1172, "referenceAllele": "C", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000389902.7:c.904C>T" ], "proteinEffect": { "hgvs": "ENSP00000374552.3:p.Gln302Ter", "hgvsWellDefined": "ENSP00000374552.3:p.Gln303_Phe923delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274315" }, { "coordinates": [ { "allele": "T", "end": 958, "referenceAllele": "C", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "ENST00000425013.6:c.733C>T" ], "proteinEffect": { "hgvs": "ENSP00000404602.2:p.Gln245Ter", "hgvsWellDefined": "ENSP00000404602.2:p.Gln246_Phe866delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS288553" }, { "@id": "http://reg.genome.network/allele/PA203833", "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207111.3:c.904C>T" ], "proteinEffect": { "hgvs": "NP_996994.1:p.Gln302Ter", "hgvsWellDefined": "NP_996994.1:p.Gln303_Phe923delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045392" }, { "@id": "http://reg.genome.network/allele/PA2830526385", "coordinates": [ { "allele": "T", "end": 992, "referenceAllele": "C", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207116.2:c.733C>T" ], "proteinEffect": { "hgvs": "NP_996999.1:p.Gln245Ter", "hgvsWellDefined": "NP_996999.1:p.Gln246_Phe866delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045395" }, { "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_005249785.2:c.904C>T" ], "proteinEffect": { "hgvs": "XP_005249842.1:p.Gln302Ter", "hgvsWellDefined": "XP_005249842.1:p.Gln303_Phe923delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS058940" }, { "coordinates": [ { "allele": "T", "end": 633, "referenceAllele": "C", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_006715748.1:c.-675C>T" ], "proteinEffect": { "hgvs": "XP_006715811.1:n.-675C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS071333" }, { "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515434.1:c.904C>T" ], "proteinEffect": { "hgvs": "XP_011513736.1:p.Gln302Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS082654" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515435.1:c.904C>T" ], "proteinEffect": { "hgvs": "XP_011513737.1:p.Gln302Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS082655" }, { "coordinates": [ { "allele": "T", "end": 633, "referenceAllele": "C", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515436.1:c.-671C>T" ], "proteinEffect": { "hgvs": "XP_011513738.1:n.-671C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS082656" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XR_242090.1:n.1136C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116199" }, { "coordinates": [ { "allele": "T", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_011515436.2:c.-671C>T" ], "proteinEffect": { "hgvs": "XP_011513738.1:n.-671C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS543750" }, { "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "C", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_017012363.2:c.733C>T" ], "proteinEffect": { "hgvs": "XP_016867852.1:p.Gln245Ter", "hgvsWellDefined": "XP_016867852.1:p.Gln246_Phe866delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565987" }, { "coordinates": [ { "allele": "T", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_017012364.2:c.904C>T" ], "proteinEffect": { "hgvs": "XP_016867853.1:p.Gln302Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565988" }, { "coordinates": [ { "allele": "T", "end": 1159, "referenceAllele": "C", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446805.1:c.904C>T" ], "proteinEffect": { "hgvs": "XP_024302573.1:p.Gln302Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS580455" }, { "coordinates": [ { "allele": "T", "end": 1091, "referenceAllele": "C", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446806.1:c.-675C>T" ], "proteinEffect": { "hgvs": "XP_024302574.1:n.-675C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580456" }, { "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "XM_024446807.1:c.-675C>T" ], "proteinEffect": { "hgvs": "XP_024302575.1:n.-675C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS580457" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "C", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_001377156.1:c.733C>T" ], "proteinEffect": { "hgvs": "NP_001364085.1:p.Gln245Ter", "hgvsWellDefined": "NP_001364085.1:p.Gln246_Phe866delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS694948" }, { "@id": "http://reg.genome.network/allele/PA203833", "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207111.4:c.904C>T" ], "proteinEffect": { "hgvs": "NP_996994.1:p.Gln302Ter", "hgvsWellDefined": "NP_996994.1:p.Gln303_Phe923delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389902.8:c.904C>T" }, "RefSeq": { "hgvs": "NM_207111.4:c.904C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374552.3:p.Gln302Ter" }, "RefSeq": { "hgvs": "NP_996994.1:p.Gln302Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830526385", "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN021698", "geneNCBI_id": 54476, "geneSymbol": "RNF216", "hgvs": [ "NM_207116.3:c.733C>T" ], "proteinEffect": { "hgvs": "NP_996999.1:p.Gln245Ter", "hgvsWellDefined": "NP_996999.1:p.Gln246_Phe866delinsLeuAlaSerAspAspGluGluProGlyProAlaPheProMetGlnGluSerGlnGluProAsnLeuGluAsnIleTrpGlyGlnGluAlaAlaGluValAspGlnGluLeuValGluLeuLeuValLysGluThrGluAlaArgPheProAspValAlaAsnGlyPheIleGluGluIleIleHisPheLysAsnTyrTyrAspLeuAsnValLeuCysAsnPheLeuLeuGluAsnProAspTyrProLysArgGluAspArgIleIleIleAsnProSerSerSerLeuLeuAlaSerGlnAspGluThrLysLeuProLysIleAspPhePheAspTyrSerLysLeuThrProLeuAspGlnArgCysPheIleGlnAlaAlaAspLeuLeuMetAlaAspPheLysValLeuSerSerGlnAspIleLysTrpAlaLeuHisGluLeuLysGlyHisTyrAlaIleThrArgLysAlaLeuSerAspAlaIleLysLysTrpGlnGluLeuSerProGluThrSerGlyLysArgLysLysArgLysGlnMetAsnGlnTyrSerTyrIleAspPheLysPheGluGlnGlyAspIleLysIleGluLysArgMetPhePheLeuGluAsnLysArgArgHisCysArgSerTyrAspArgArgAlaLeuLeuProAlaValGlnGlnGluGlnGluPheTyrGluGlnLysIleLysGluMetAlaGluHisGluAspPheLeuLeuAlaLeuGlnMetAsnGluGluGlnTyrGlnLysAspGlyGlnLeuIleGluCysArgCysCysTyrGlyGluPheProPheGluGluLeuThrGlnCysAlaAspAlaHisLeuPheCysLysGluCysLeuIleArgTyrAlaGlnGluAlaValPheGlySerGlyLysLeuGluLeuSerCysMetGluGlySerCysThrCysSerPheProThrSerGluLeuGluLysValLeuProGlnThrIleLeuTyrLysTyrTyrGluArgLysAlaGluGluGluValAlaAlaAlaTyrAlaAspGluLeuValArgCysProSerCysSerPheProAlaLeuLeuAspSerAspValLysArgPheSerCysProAsnProHisCysArgLysGluThrCysArgLysCysGlnGlyLeuTrpLysGluHisAsnGlyLeuThrCysGluGluLeuAlaGluLysAspAspIleLysTyrArgThrSerIleGluGluLysMetThrAlaAlaArgIleArgLysCysHisLysCysGlyThrGlyLeuIleLysSerGluGlyCysAsnArgMetSerCysArgCysGlyAlaGlnMetCysTyrLeuCysArgValSerIleAsnGlyTyrAspHisPheCysGlnHisProArgSerProGlyAlaProCysGlnGluCysSerArgCysSerLeuTrpThrAspProThrGluAspAspGluLysLeuIleGluGluIleGlnLysGluAlaGluGluGluGlnLysArgLysAsnGlyGluAsnThrPheLysArgIleGlyProProLeuGluLysProValGluLysValGlnArgValGluAlaLeuProArgProValProGlnAsnLeuProGlnProGlnMetProProTyrAlaPheAlaHisProProPheProLeuProProValArgProValPheAsnAsnPheProLeuAsnMetGlyProIleProAlaProTyrValProProLeuProAsnValArgValAsnTyrAspPheGlyProIleHisMetProLeuGluHisAsnLeuProMetHisPheGlyProGlnProArgHisArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701730" } ], "type": "nucleotide" }