{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7860439", "communityStandardTitle": [ "NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=843791[alleleid]", "alleleId": 843791, "preferredName": "NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/859215", "RCV": [ "RCV001065276", "RCV002505642", "RCV003127612", "RCV003127613" ], "variationId": 859215 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-3304663-G-C", "id": "16-3304663-G-C", "variant": "16:3304663 G / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3304663G>C?assembly=hg19", "id": "chr16:g.3304663G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3254663G>C?assembly=hg38", "id": "chr16:g.3254663G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/766323718", "rs": 766323718 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3304663-G-C?dataset=gnomad_r2_1", "id": "16-3304663-G-C", "variant": "16:3304663 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3254663-G-C?dataset=gnomad_r4", "id": "16-3254663-G-C", "variant": "16:3254663 G / C" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 3254663, "referenceAllele": "G", "start": 3254662 } ], "hgvs": [ "NC_000016.10:g.3254663G>C", "CM000678.2:g.3254663G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 3304663, "referenceAllele": "G", "start": 3304662 } ], "hgvs": [ "NC_000016.9:g.3304663G>C", "CM000678.1:g.3304663G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 3244664, "referenceAllele": "G", "start": 3244663 } ], "hgvs": [ "NC_000016.8:g.3244664G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "G", "end": 6965, "referenceAllele": "C", "start": 6964 } ], "hgvs": [ "NG_007871.1:g.6965C>G", "LRG_190:g.6965C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000680" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.6:c.405C>G" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Tyr135Ter", "hgvsWellDefined": "ENSP00000219596.1:p.Tyr135_Asp781delinsGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740442", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.405C>G" }, "RefSeq": { "hgvs": "NM_000243.3:c.405C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Tyr135Ter" }, "RefSeq": { "hgvs": "NP_000234.1:p.Tyr135Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.5:c.405C>G" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Tyr135Ter", "hgvsWellDefined": "ENSP00000219596.1:p.Tyr135_Asp781delinsGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248198" }, { "coordinates": [ { "allele": "G", "end": 317, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 317, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000339854.8:c.277+1648C>G" ], "proteinEffect": { "hgvs": "ENSP00000339639.4:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS260963" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536379.5:c.277+1648C>G" ], "proteinEffect": { "hgvs": "ENSP00000445079.1:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS360237" }, { "coordinates": [ { "allele": "G", "end": 317, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 317, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536980.5:c.277+1648C>G" ], "proteinEffect": { "hgvs": "ENSP00000444178.1:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS360536" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000537682.5:c.405C>G" ], "proteinEffect": { "hgvs": "ENSP00000438611.1:p.Tyr135Ter", "hgvsWellDefined": "ENSP00000438611.1:p.Tyr135_Ile613delinsGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnGlyGluSerSerGlyAsnGlyValCysTrpProGlyValValAlaValPheProCysAlaValAspLeuArgGlyProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360904" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000538326.5:c.405C>G" ], "proteinEffect": { "hgvs": "ENSP00000437486.1:p.Tyr135Ter", "hgvsWellDefined": "ENSP00000437486.1:p.Tyr135_Arg490delinsGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuValValValGlnTrpCysAspLeuGlySerLeuGlnProLeuProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrArgAsnLysLeuLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361258" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000539145.5:c.277+1648C>G" ], "proteinEffect": { "hgvs": "ENSP00000444471.1:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS361697" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000541159.5:c.277+1648C>G" ], "proteinEffect": { "hgvs": "ENSP00000438711.1:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS362786" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000542898.5:c.405C>G" ], "proteinEffect": { "hgvs": "ENSP00000444615.1:p.Tyr135Ter", "hgvsWellDefined": "ENSP00000444615.1:p.Tyr135_Ile644delinsGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrAspMetGlySerCysTyrValAlaGlnValGlyLeuGluLeuLeuIleSerAsnAsnProProIlePheAlaSerGluThrAlaGlyIleThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnGlyGluSerSerGlyAsnGlyValCysTrpProGlyValValAlaValPheProCysAlaValAspLeuArgGlyProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363711" }, { "coordinates": [ { "allele": "G", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000570511.5:c.405C>G" ], "proteinEffect": { "hgvs": "ENSP00000458312.1:p.Tyr135Ter", "hgvsWellDefined": "ENSP00000458312.1:p.Tyr135_Asn306delinsGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGluThrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS382123" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000572244.5:c.277+1648C>G" ], "proteinEffect": { "hgvs": "ENSP00000461186.1:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS382841" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000574583.5:c.277+1648C>G" ], "proteinEffect": { "hgvs": "ENSP00000460269.1:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS383748" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000576315.5:c.277+1648C>G" ], "proteinEffect": { "hgvs": "ENSP00000460551.1:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS384430" }, { "coordinates": [ { "allele": "G", "end": 277, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 277, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000621655.1:c.277+1648C>G" ], "proteinEffect": { "hgvs": "ENSP00000481436.1:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS405372" }, { "@id": "http://reg.genome.network/allele/PA1139673997", "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "C", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.2:c.405C>G", "LRG_190t1:c.405C>G" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Tyr135Ter", "hgvsWellDefined": "NP_000234.1:p.Tyr135_Asp781delinsGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006305" }, { "coordinates": [ { "allele": "G", "end": 317, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 317, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.1:c.277+1648C>G" ], "proteinEffect": { "hgvs": "NP_001185465.1:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS016767" }, { "coordinates": [ { "allele": "G", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XM_017023236.2:c.405C>G" ], "proteinEffect": { "hgvs": "XP_016878725.1:p.Tyr135Ter", "hgvsWellDefined": "XP_016878725.1:p.Tyr135_Asp780delinsGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574032" }, { "coordinates": [ { "allele": "G", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XR_001751903.1:n.594C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS598691" }, { "@id": "http://reg.genome.network/allele/PA1139673997", "coordinates": [ { "allele": "G", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.3:c.405C>G" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Tyr135Ter", "hgvsWellDefined": "NP_000234.1:p.Tyr135_Asp781delinsGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674759", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.405C>G" }, "RefSeq": { "hgvs": "NM_000243.3:c.405C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Tyr135Ter" }, "RefSeq": { "hgvs": "NP_000234.1:p.Tyr135Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 323, "endIntronDirection": "+", "endIntronOffset": 1648, "referenceAllele": "C", "start": 323, "startIntronDirection": "+", "startIntronOffset": 1647 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.2:c.277+1648C>G" ], "proteinEffect": { "hgvs": "NP_001185465.2:n.277+1648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS679391" } ], "type": "nucleotide" }