{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10577525", "communityStandardTitle": [ "NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=231950[alleleid]", "alleleId": 231950, "preferredName": "NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234352", "RCV": [ "RCV000222115", "RCV000781527", "RCV000818575", "RCV003126617", "RCV003126618" ], "variationId": 234352 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3304632G>A?assembly=hg19", "id": "chr16:g.3304632G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3254632G>A?assembly=hg38", "id": "chr16:g.3254632G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876660990", "rs": 876660990 } ] }, "genomicAlleles": [ { "chromosome": "16", 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"NP_000234.1:p.Gln146_Asp781delinsProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006305" }, { "coordinates": [ { "allele": "T", "end": 317, "endIntronDirection": "+", "endIntronOffset": 1679, "referenceAllele": "C", "start": 317, "startIntronDirection": "+", "startIntronOffset": 1678 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.1:c.277+1679C>T" ], "proteinEffect": { "hgvs": "NP_001185465.1:n.277+1679C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS016767" }, { "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XM_017023236.2:c.436C>T" ], "proteinEffect": { "hgvs": "XP_016878725.1:p.Gln146Ter", "hgvsWellDefined": "XP_016878725.1:p.Gln146_Asp780delinsProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574032" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XR_001751903.1:n.625C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598691" }, { "@id": "http://reg.genome.network/allele/PA645381023", "coordinates": [ { "allele": "T", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.3:c.436C>T" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Gln146Ter", "hgvsWellDefined": "NP_000234.1:p.Gln146_Asp781delinsProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674759", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.436C>T" }, "RefSeq": { "hgvs": "NM_000243.3:c.436C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Gln146Ter" }, "RefSeq": { "hgvs": "NP_000234.1:p.Gln146Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 323, "endIntronDirection": "+", "endIntronOffset": 1679, "referenceAllele": "C", "start": 323, "startIntronDirection": "+", "startIntronOffset": 1678 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.2:c.277+1679C>T" ], "proteinEffect": { "hgvs": "NP_001185465.2:n.277+1679C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS679391" } ], "type": "nucleotide" }