{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7860184", "communityStandardTitle": [ "NM_000243.3(MEFV):c.1321C>T (p.Arg441Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1686767[alleleid]", "alleleId": 1686767, "preferredName": "NM_000243.3(MEFV):c.1321C>T (p.Arg441Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1694332", "RCV": [ "RCV002262054" ], "variationId": 1694332 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-3298944-G-A", "id": "16-3298944-G-A", "variant": "16:3298944 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3298944G>A?assembly=hg19", "id": "chr16:g.3298944G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3248944G>A?assembly=hg38", "id": "chr16:g.3248944G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/768066753", "rs": 768066753 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3298944-G-A?dataset=gnomad_r2_1", "id": "16-3298944-G-A", "variant": "16:3298944 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3248944-G-A?dataset=gnomad_r3", "id": "16-3248944-G-A", "variant": "16:3248944 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3248944-G-A?dataset=gnomad_r4", "id": "16-3248944-G-A", "variant": "16:3248944 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 3248944, "referenceAllele": "G", "start": 3248943 } ], "hgvs": [ "NC_000016.10:g.3248944G>A", "CM000678.2:g.3248944G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 3298944, "referenceAllele": "G", "start": 3298943 } ], "hgvs": [ "NC_000016.9:g.3298944G>A", "CM000678.1:g.3298944G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 3238945, "referenceAllele": "G", "start": 3238944 } ], "hgvs": [ "NC_000016.8:g.3238945G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 12684, "referenceAllele": "C", "start": 12683 } ], "hgvs": [ "NG_007871.1:g.12684C>T", "LRG_190:g.12684C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000680" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1367, "referenceAllele": "C", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.6:c.1321C>T" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Arg441Ter", "hgvsWellDefined": "ENSP00000219596.1:p.Arg441_Asp781delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740442", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.1321C>T" }, "RefSeq": { "hgvs": "NM_000243.3:c.1321C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Arg441Ter" }, "RefSeq": { "hgvs": "NP_000234.1:p.Arg441Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "C", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.5:c.1321C>T" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Arg441Ter", "hgvsWellDefined": "ENSP00000219596.1:p.Arg441_Asp781delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248198" }, { "coordinates": [ { "allele": "T", "end": 821, "referenceAllele": "C", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000339854.8:c.781C>T" ], "proteinEffect": { "hgvs": "ENSP00000339639.4:p.Arg261Ter", "hgvsWellDefined": "ENSP00000339639.4:p.Arg261_Asp601delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260963" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536379.5:c.688C>T" ], "proteinEffect": { "hgvs": "ENSP00000445079.1:p.Arg230Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS360237" }, { "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536980.5:c.688C>T" ], "proteinEffect": { "hgvs": "ENSP00000444178.1:p.Arg230Ter", "hgvsWellDefined": "ENSP00000444178.1:p.Arg230_Ile402delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnGlyGluSerSerGlyAsnGlyValCysTrpProGlyValValAlaValPheProCysAlaValAspLeuArgGlyProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360536" }, { "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "C", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000537682.5:c.1321C>T" ], "proteinEffect": { "hgvs": "ENSP00000438611.1:p.Arg441Ter", "hgvsWellDefined": "ENSP00000438611.1:p.Arg441_Ile613delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnGlyGluSerSerGlyAsnGlyValCysTrpProGlyValValAlaValPheProCysAlaValAspLeuArgGlyProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360904" }, { 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"http://reg.genome.network/refseq/RS361697" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000541159.5:c.688C>T" ], "proteinEffect": { "hgvs": "ENSP00000438711.1:p.Arg230Ter", "hgvsWellDefined": "ENSP00000438711.1:p.Arg230_Cys445delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuSerLeuLeuSerGlyGlnCysAsnLeuAlaProLeuAsnAlaAsnAlaGlnAspPhePheProTyrLeuIlePheLeuArgSerSerGlyAlaAspTrpArgSerGlyThrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362786" }, { "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000542898.5:c.1414C>T" ], 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"MEFV", "hgvs": [ "ENST00000570511.5:c.911-1698C>T" ], "proteinEffect": { "hgvs": "ENSP00000458312.1:n.911-1698C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS382123" }, { "coordinates": [ { "allele": "T", "end": 277, "endIntronDirection": "-", "endIntronOffset": 2396, "referenceAllele": "C", "start": 277, "startIntronDirection": "-", "startIntronOffset": 2397 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000572244.5:c.278-2397C>T" ], "proteinEffect": { "hgvs": "ENSP00000461186.1:n.278-2397C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS382841" }, { "coordinates": [ { "allele": "T", "end": 277, "endIntronDirection": "-", "endIntronOffset": 1697, "referenceAllele": "C", "start": 277, "startIntronDirection": "-", "startIntronOffset": 1698 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000574583.5:c.278-1698C>T" ], 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"ENSP00000481436.1:p.Arg230_Val411delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuValValArgThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405372" }, { "@id": "http://reg.genome.network/allele/PA2580112336", "coordinates": [ { "allele": "T", "end": 1361, "referenceAllele": "C", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.2:c.1321C>T", "LRG_190t1:c.1321C>T" ], "proteinEffect": { "hgvs": 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"NP_000234.1:p.Arg441_Asp781delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006305" }, { "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.1:c.688C>T" ], "proteinEffect": { "hgvs": "NP_001185465.1:p.Arg230Ter", "hgvsWellDefined": "NP_001185465.1:p.Arg230_Cys445delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuSerLeuLeuSerGlyGlnCysAsnLeuAlaProLeuAsnAlaAsnAlaGlnAspPhePheProTyrLeuIlePheLeuArgSerSerArgAlaAspTrpArgSerGlyThrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016767" }, { "coordinates": [ { "allele": "T", "end": 1500, "referenceAllele": "C", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XM_017023236.2:c.1318C>T" ], "proteinEffect": { "hgvs": "XP_016878725.1:p.Arg440Ter", "hgvsWellDefined": "XP_016878725.1:p.Arg440_Asp780delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574032" }, { "coordinates": [ { "allele": "T", "end": 1510, "referenceAllele": "C", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XR_001751903.1:n.1510C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598691" }, { "@id": "http://reg.genome.network/allele/PA2580112336", "coordinates": [ { "allele": "T", "end": 1367, "referenceAllele": "C", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.3:c.1321C>T" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Arg441Ter", "hgvsWellDefined": "NP_000234.1:p.Arg441_Asp781delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674759", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.1321C>T" }, "RefSeq": { "hgvs": "NM_000243.3:c.1321C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Arg441Ter" }, "RefSeq": { "hgvs": "NP_000234.1:p.Arg441Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826174663", "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.2:c.688C>T" ], "proteinEffect": { "hgvs": "NP_001185465.2:p.Arg230Ter", "hgvsWellDefined": "NP_001185465.2:p.Arg230_Cys445delinsSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuSerLeuLeuSerGlyGlnCysAsnLeuAlaProLeuAsnAlaAsnAlaGlnAspPhePheProTyrLeuIlePheLeuArgSerSerGlyAlaAspTrpArgSerGlyThrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679391" } ], "type": "nucleotide" }