{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7860509", "communityStandardTitle": [ "NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1470840", "active": true, "id": "COSM1470840" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1470841", "active": true, "id": "COSM1470841" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=982012[alleleid]", "alleleId": 982012, "preferredName": "NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/994179", "RCV": [ "RCV001813117", "RCV002493511", "RCV003127758", "RCV003127756", "RCV003127757" ], "variationId": 994179 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-3306386-G-A", "id": "16-3306386-G-A", "variant": "16:3306386 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3306386G>A?assembly=hg19", "id": "chr16:g.3306386G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3256386G>A?assembly=hg38", "id": "chr16:g.3256386G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/768473920", "rs": 768473920 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3306386-G-A?dataset=gnomad_r2_1", "id": "16-3306386-G-A", "variant": "16:3306386 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3256386-G-A?dataset=gnomad_r3", "id": "16-3256386-G-A", "variant": "16:3256386 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3256386-G-A?dataset=gnomad_r4", "id": "16-3256386-G-A", "variant": "16:3256386 G / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 3256386, "referenceAllele": "G", "start": 3256385 } ], "hgvs": [ "NC_000016.10:g.3256386G>A", "CM000678.2:g.3256386G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 3306386, "referenceAllele": "G", "start": 3306385 } ], "hgvs": [ "NC_000016.9:g.3306386G>A", "CM000678.1:g.3306386G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 3246387, "referenceAllele": "G", "start": 3246386 } ], "hgvs": [ "NC_000016.8:g.3246387G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 5242, "referenceAllele": "C", "start": 5241 } ], "hgvs": [ "NG_007871.1:g.5242C>T", "LRG_190:g.5242C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000680" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.6:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000219596.1:p.Gln68_Asp781delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluTyrSerThrGlnGluAsnGlyThrAspAspSerAlaAlaSerSerSerLeuGlyGluAsnLysProArgSerLeuLysThrProAspHisProGluGlyAsnGluGlyAsnGlyProArgProTyrGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740442", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.202C>T" }, "RefSeq": { "hgvs": "NM_000243.3:c.202C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Gln68Ter" }, "RefSeq": { "hgvs": "NP_000234.1:p.Gln68Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000219596.1:p.Gln68_Asp781delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluTyrSerThrGlnGluAsnGlyThrAspAspSerAlaAlaSerSerSerLeuGlyGluAsnLysProArgSerLeuLysThrProAspHisProGluGlyAsnGluGlyAsnGlyProArgProTyrGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248198" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000339854.8:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000339639.4:p.Gln68Ter", "hgvsWellDefined": "ENSP00000339639.4:p.Gln68_Asp601delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnAspMetGlySerCysTyrValAlaGlnValGlyLeuGluLeuLeuIleSerAsnAsnProProIlePheAlaSerGluThrAlaGlyIleThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS260963" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536379.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000445079.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000445079.1:p.Gln68_Asp570delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360237" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536980.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000444178.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000444178.1:p.Gln68_Ile402delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnGlyGluSerSerGlyAsnGlyValCysTrpProGlyValValAlaValPheProCysAlaValAspLeuArgGlyProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360536" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000537682.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000438611.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000438611.1:p.Gln68_Ile613delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluTyrSerThrGlnGluAsnGlyThrAspAspSerAlaAlaSerSerSerLeuGlyGluAsnLysProArgSerLeuLysThrProAspHisProGluGlyAsnGluGlyAsnGlyProArgProTyrGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnGlyGluSerSerGlyAsnGlyValCysTrpProGlyValValAlaValPheProCysAlaValAspLeuArgGlyProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360904" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000538326.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000437486.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000437486.1:p.Gln68_Arg490delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluTyrSerThrGlnGluAsnGlyThrAspAspSerAlaAlaSerSerSerLeuGlyGluAsnLysProArgSerLeuLysThrProAspHisProGluGlyAsnGluGlyAsnGlyProArgProTyrGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuValValValGlnTrpCysAspLeuGlySerLeuGlnProLeuProProGlyPheLysArgPheSerCysLeuSerLeuLeuSerSerTrpAspTyrArgAsnLysLeuLysArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361258" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000539145.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000444471.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000444471.1:p.Gln68_Asn95delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluThrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361697" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000541159.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000438711.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000438711.1:p.Gln68_Cys445delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuSerLeuLeuSerGlyGlnCysAsnLeuAlaProLeuAsnAlaAsnAlaGlnAspPhePheProTyrLeuIlePheLeuArgSerSerGlyAlaAspTrpArgSerGlyThrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362786" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000542898.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000444615.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000444615.1:p.Gln68_Ile644delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluTyrSerThrGlnGluAsnGlyThrAspAspSerAlaAlaSerSerSerLeuGlyGluAsnLysProArgSerLeuLysThrProAspHisProGluGlyAsnGluGlyAsnGlyProArgProTyrGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrAspMetGlySerCysTyrValAlaGlnValGlyLeuGluLeuLeuIleSerAsnAsnProProIlePheAlaSerGluThrAlaGlyIleThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnGlyGluSerSerGlyAsnGlyValCysTrpProGlyValValAlaValPheProCysAlaValAspLeuArgGlyProIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363711" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000570511.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000458312.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000458312.1:p.Gln68_Asn306delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluTyrSerThrGlnGluAsnGlyThrAspAspSerAlaAlaSerSerSerLeuGlyGluAsnLysProArgSerLeuLysThrProAspHisProGluGlyAsnGluGlyAsnGlyProArgProTyrGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGluThrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS382123" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000572244.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000461186.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000461186.1:p.Gln68_Gly101delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGlyHisTrpArgHisLeuAlaGlnGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS382841" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000574583.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000460269.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000460269.1:p.Gln68_Asn95delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluThrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383748" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000576315.5:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000460551.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000460551.1:p.Gln68_Asn95delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluThrAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384430" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "C", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000621655.1:c.202C>T" ], "proteinEffect": { "hgvs": "ENSP00000481436.1:p.Gln68Ter", "hgvsWellDefined": "ENSP00000481436.1:p.Gln68_Val411delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuValValArgThrValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405372" }, { "@id": "http://reg.genome.network/allele/PA2825099665", "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.2:c.202C>T", "LRG_190t1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Gln68Ter", "hgvsWellDefined": "NP_000234.1:p.Gln68_Asp781delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluTyrSerThrGlnGluAsnGlyThrAspAspSerAlaAlaSerSerSerLeuGlyGluAsnLysProArgSerLeuLysThrProAspHisProGluGlyAsnGluGlyAsnGlyProArgProTyrGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006305" }, { "coordinates": [ { "allele": "T", "end": 242, "referenceAllele": "C", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.1:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001185465.1:p.Gln68Ter", "hgvsWellDefined": "NP_001185465.1:p.Gln68_Cys445delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuSerLeuLeuSerGlyGlnCysAsnLeuAlaProLeuAsnAlaAsnAlaGlnAspPhePheProTyrLeuIlePheLeuArgSerSerArgAlaAspTrpArgSerGlyThrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016767" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XM_017023236.2:c.202C>T" ], "proteinEffect": { "hgvs": "XP_016878725.1:p.Gln68Ter", "hgvsWellDefined": "XP_016878725.1:p.Gln68_Asp780delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluTyrSerThrGlnGluAsnGlyThrAspAspSerAlaAlaSerSerSerLeuGlyGluAsnLysProArgSerLeuLysThrProAspHisProGluGlyAsnGluGlyAsnGlyProArgProTyrGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574032" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "C", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XR_001751903.1:n.391C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598691" }, { "@id": "http://reg.genome.network/allele/PA2825099665", "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.3:c.202C>T" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Gln68Ter", "hgvsWellDefined": "NP_000234.1:p.Gln68_Asp781delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGluTyrSerThrGlnGluAsnGlyThrAspAspSerAlaAlaSerSerSerLeuGlyGluAsnLysProArgSerLeuLysThrProAspHisProGluGlyAsnGluGlyAsnGlyProArgProTyrGlyGlyGlyAlaAlaSerLeuArgCysSerGlnProGluAlaGlyArgGlyLeuSerArgLysProLeuSerLysArgArgGluLysAlaSerGluGlyLeuAspAlaGlnGlyLysProArgThrArgSerProAlaLeuProGlyGlyArgSerProGlyProCysArgAlaLeuGluGlyGlyGlnAlaGluValArgLeuArgArgAsnAlaSerSerAlaGlyArgLeuGlnGlyLeuAlaGlyGlyAlaProGlyGlnLysGluCysArgProPheGluValTyrLeuProSerGlyLysMetArgProArgSerLeuGluValThrIleSerThrGlyGluLysAlaProAlaAsnProGluIleLeuLeuThrLeuGluGluLysThrAlaAlaAsnLeuAspSerAlaThrGluProArgAlaArgProThrProAspGlyGlyAlaSerAlaAspLeuLysGluGlyProGlyAsnProGluHisSerValThrGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnValProGluLeuIleGlyAlaGlnAlaHisAlaValAsnValIleLeuAspAlaGluThrAlaTyrProAsnLeuIlePheSerAspAspLeuLysSerValArgLeuGlyAsnLysTrpGluArgLeuProAspGlyProGlnArgPheAspSerCysIleIleValLeuGlySerProSerPheLeuSerGlyArgArgTyrTrpGluValGluValGlyAspLysThrAlaTrpIleLeuGlyAlaCysLysThrSerIleSerArgLysGlyAsnMetThrLeuSerProGluAsnGlyTyrTrpValValIleMetMetLysGluAsnGluTyrGlnAlaSerSerValProProThrArgLeuLeuIleLysGluProProLysArgValGlyIlePheValAspTyrArgValGlySerIleSerPheTyrAsnValThrAlaArgSerHisIleTyrThrPheAlaSerCysSerPheSerGlyProLeuGlnProIlePheSerProGlyThrArgAspGlyGlyLysAsnThrAlaProLeuThrIleCysProValGlyGlyGlnGlyProAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674759", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.202C>T" }, "RefSeq": { "hgvs": "NM_000243.3:c.202C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Gln68Ter" }, "RefSeq": { "hgvs": "NP_000234.1:p.Gln68Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139687224", "coordinates": [ { "allele": "T", "end": 248, "referenceAllele": "C", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.2:c.202C>T" ], "proteinEffect": { "hgvs": "NP_001185465.2:p.Gln68Ter", "hgvsWellDefined": "NP_001185465.2:p.Gln68_Cys445delinsLeuThrLeuGlnValLeuArgAlaIleAsnGlnArgLeuLeuAlaGluGluLeuHisArgAlaAlaIleGlnGlyArgProProAspThrAlaAlaSerProArgCysHisAlaGlnGluGlyAspProValAspGlyThrCysValArgAspSerCysSerPheProGluAlaValSerGlyHisProGlnAlaSerGlySerArgSerProGlyCysProArgCysGlnAspSerHisGluArgLysSerProGlySerLeuSerProGlnProLeuProGlnCysLysArgHisLeuLysGlnValGlnLeuLeuPheCysGluAspHisAspGluProIleCysLeuIleCysSerLeuSerGlnGluHisGlnGlyHisArgValArgProIleGluGluValAlaLeuGluHisLysLysLysIleGlnLysGlnLeuGluHisLeuLysLysLeuArgLysSerGlyGluGluGlnArgSerTyrGlyGluGluLysAlaValSerPheLeuLysGlnThrGluAlaLeuLysGlnArgValGlnArgLysLeuGluGlnValTyrTyrPheLeuGluGlnGlnGluHisPhePheValAlaSerLeuGluAspValGlyGlnMetValGlyGlnIleArgLysAlaTyrAspThrArgValSerGlnAspIleAlaLeuLeuAspAlaLeuIleGlyGluLeuGluAlaLysGluCysGlnSerGluTrpGluLeuLeuGlnAspIleGlyAspIleLeuHisArgAlaLysThrValProValProGluLysTrpThrThrProGlnGluIleLysGlnLysIleGlnLeuLeuHisGlnLysSerGluPheValGluLysSerThrLysTyrPheSerGluThrLeuArgSerGluMetGluMetPheAsnAspHisSerProGlnHisGlyLeuGlySerTrpGluGluArgAspTyrThrGlnHisSerMetGlnGlyProLysGlnGlyValProCysLeuSerLeuLeuSerGlyGlnCysAsnLeuAlaProLeuAsnAlaAsnAlaGlnAspPhePheProTyrLeuIlePheLeuArgSerSerGlyAlaAspTrpArgSerGlyThrCysCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679391" } ], "type": "nucleotide" }