{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA279928", "communityStandardTitle": [ "NM_001270508.2(TNFAIP3):c.680T>A (p.Leu227Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=216910[alleleid]", "alleleId": 216910, "preferredName": "NM_001270508.2(TNFAIP3):c.680T>A (p.Leu227Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219108", "RCV": [ "RCV002508765" ], "variationId": 219108 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.138197178T>A?assembly=hg19", "id": "chr6:g.138197178T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.137876041T>A?assembly=hg38", "id": "chr6:g.137876041T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/864321625", "rs": 864321625 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 137876041, "referenceAllele": "T", "start": 137876040 } ], "hgvs": [ "NC_000006.12:g.137876041T>A", "CM000668.2:g.137876041T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 138197178, "referenceAllele": "T", "start": 138197177 } ], "hgvs": [ "NC_000006.11:g.138197178T>A", "CM000668.1:g.138197178T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 138238871, "referenceAllele": "T", "start": 138238870 } ], "hgvs": [ "NC_000006.10:g.138238871T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 13598, "referenceAllele": "T", "start": 13597 } ], "hgvs": [ "NG_032761.1:g.13598T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005208" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "T", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000420009.6:c.680T>A" ], "proteinEffect": { "hgvs": "ENSP00000401562.2:p.Leu227Ter", "hgvsWellDefined": "ENSP00000401562.2:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" 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"ENSP00000393577.2:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904763" }, { "coordinates": [ { "allele": "A", "end": 845, "referenceAllele": "T", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000433680.2:c.680T>A" ], "proteinEffect": { "hgvs": "ENSP00000409845.2:p.Leu227Ter", "hgvsWellDefined": "ENSP00000409845.2:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904854" }, { "coordinates": [ { "allele": "A", "end": 1301, "referenceAllele": "T", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000485192.2:n.1301T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905325" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "T", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000698329.1:n.1029T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909317" }, { "coordinates": [ { "allele": "A", "end": 295, "endIntronDirection": "-", "endIntronOffset": 2390, "referenceAllele": "T", "start": 295, "startIntronDirection": "-", "startIntronOffset": 2391 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000698330.1:n.296-2391T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS909318" }, { "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "T", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.5:c.680T>A" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Leu227Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761897", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.680T>A" }, "RefSeq": { "hgvs": "NM_001270508.2:c.680T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Leu227Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Leu227Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "T", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000237289.8:c.680T>A" ], "proteinEffect": { "hgvs": "ENSP00000237289.4:p.Leu227Ter", "hgvsWellDefined": "ENSP00000237289.4:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248998" }, { "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "T", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000485192.1:n.204T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324285" }, { "coordinates": [ { "allele": "A", "end": 1050, "referenceAllele": "T", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.4:c.680T>A" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Leu227Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401513" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000614035.4:c.680T>A" ], "proteinEffect": { "hgvs": "ENSP00000481122.2:p.Leu227Ter", "hgvsWellDefined": "ENSP00000481122.2:p.Leu227_Gln470delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlySerPheGlyProThrAspSerThrGlnProPheSerValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401998" }, { "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "T", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000615468.4:c.*34T>A" ], "proteinEffect": { "hgvs": "ENSP00000479556.1:n.*34T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS402631" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000619035.4:c.680T>A" ], "proteinEffect": { "hgvs": "ENSP00000478438.1:p.Leu227Ter", "hgvsWellDefined": "ENSP00000478438.1:p.Leu227_Gly749delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404194" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000620204.3:c.680T>A" ], "proteinEffect": { "hgvs": "ENSP00000481454.1:p.Leu227Ter", "hgvsWellDefined": "ENSP00000481454.1:p.Leu227_Val669delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuPheHisArgValGlnArgLysGlnThrPheCysCysCysLeuArgGluSerGlnSerHisSerValGlnValProGluHisHisSerValProGlyGluGlyMetArgHisProTrpLysHisHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404720" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000621150.3:c.680T>A" ], "proteinEffect": { "hgvs": "ENSP00000484332.2:p.Leu227Ter", "hgvsWellDefined": "ENSP00000484332.2:p.Leu227_Ile531delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuArgGlnProArgProArgProHisLysAlaLeuGlySerArgGluValProSerLeuProProGlyCysTyrGlnAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405145" }, { "@id": "http://reg.genome.network/allele/PA2826521352", "coordinates": [ { "allele": "A", "end": 1026, "referenceAllele": "T", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.1:c.680T>A" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Leu227Ter", "hgvsWellDefined": "NP_001257436.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020337" }, { "@id": "http://reg.genome.network/allele/PA2826522321", "coordinates": [ { "allele": "A", "end": 1050, "referenceAllele": "T", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.1:c.680T>A" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Leu227Ter", "hgvsWellDefined": "NP_001257437.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020338" }, { "@id": "http://reg.genome.network/allele/PA279929", "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "T", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.3:c.680T>A" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Leu227Ter", "hgvsWellDefined": "NP_006281.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031311" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_005267119.1:c.680T>A" ], "proteinEffect": { "hgvs": "XP_005267176.1:p.Leu227Ter", "hgvsWellDefined": "XP_005267176.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065299" }, { "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "T", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_006715555.1:c.41T>A" ], "proteinEffect": { "hgvs": "XP_006715618.1:p.Leu14Ter", "hgvsWellDefined": "XP_006715618.1:p.Leu14_Gly577delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071219" }, { "coordinates": [ { "allele": "A", "end": 1045, "referenceAllele": "T", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536095.1:c.680T>A" ], "proteinEffect": { "hgvs": "XP_011534397.1:p.Leu227Ter", "hgvsWellDefined": "XP_011534397.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103097" }, { "coordinates": [ { "allele": "A", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.1:c.680T>A" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Leu227Ter", "hgvsWellDefined": "XP_011534398.1:p.Leu227_Gly689delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103098" }, { "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "T", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.2:c.680T>A" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Leu227Ter", "hgvsWellDefined": "XP_011534398.1:p.Leu227_Gly689delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552329" }, { "coordinates": [ { "allele": "A", "end": 4021, "referenceAllele": "T", "start": 4020 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446532.1:c.680T>A" ], "proteinEffect": { "hgvs": "XP_024302300.1:p.Leu227Ter", "hgvsWellDefined": "XP_024302300.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580192" }, { "coordinates": [ { "allele": "A", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446533.1:c.680T>A" ], "proteinEffect": { "hgvs": "XP_024302301.1:p.Leu227Ter", "hgvsWellDefined": "XP_024302301.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580193" }, { "@id": "http://reg.genome.network/allele/PA2826522321", "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "T", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.2:c.680T>A" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Leu227Ter", "hgvsWellDefined": "NP_001257437.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.680T>A" }, "RefSeq": { "hgvs": "NM_001270508.2:c.680T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Leu227Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Leu227Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826521352", "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.2:c.680T>A" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Leu227Ter", "hgvsWellDefined": "NP_001257436.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681038" }, { "@id": "http://reg.genome.network/allele/PA279929", "coordinates": [ { "allele": "A", "end": 931, "referenceAllele": "T", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.4:c.680T>A" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Leu227Ter", "hgvsWellDefined": "NP_006281.1:p.Leu227_Gly790delinsLysValGlyGlyIleTyrLeuProLeuHisTrpProAlaGlnGluCysTyrArgTyrProIleValLeuGlyTyrAspSerHisHisPheValProLeuValThrLeuLysAspSerGlyProGluIleArgAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696665" } ], "type": "nucleotide" }