{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA279910", "communityStandardTitle": [ "NM_001270508.2(TNFAIP3):c.811C>T (p.Arg271Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=35978", "active": true, "id": "COSM35978" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=216912[alleleid]", "alleleId": 216912, "preferredName": "NM_001270508.2(TNFAIP3):c.811C>T (p.Arg271Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219110", "RCV": [ "RCV000579071", "RCV002508767" ], "variationId": 219110 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.138198218C>T?assembly=hg19", "id": "chr6:g.138198218C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.137877081C>T?assembly=hg38", "id": "chr6:g.137877081C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/864321626", "rs": 864321626 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-137877081-C-T?dataset=gnomad_r4", "id": "6-137877081-C-T", "variant": "6:137877081 C / T" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 137877081, "referenceAllele": "C", "start": 137877080 } ], "hgvs": [ "NC_000006.12:g.137877081C>T", "CM000668.2:g.137877081C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 138198218, "referenceAllele": "C", "start": 138198217 } ], "hgvs": [ "NC_000006.11:g.138198218C>T", "CM000668.1:g.138198218C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 138239911, "referenceAllele": "C", "start": 138239910 } ], "hgvs": [ "NC_000006.10:g.138239911C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 14638, "referenceAllele": "C", "start": 14637 } ], "hgvs": [ "NG_032761.1:g.14638C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005208" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1023, "referenceAllele": "C", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000420009.6:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000401562.2:p.Arg271Ter", "hgvsWellDefined": "ENSP00000401562.2:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914035" }, { "coordinates": [ { "allele": "T", "end": 1162, "referenceAllele": "C", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000711061.1:c.*534C>T" ], "proteinEffect": { "hgvs": "ENSP00000518561.1:n.*534C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914581" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000421450.2:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000393577.2:p.Arg271Ter", "hgvsWellDefined": "ENSP00000393577.2:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904763" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000433680.2:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000409845.2:p.Arg271Ter", "hgvsWellDefined": "ENSP00000409845.2:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904854" }, { "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000485192.2:n.1432C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905325" }, { "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000698329.1:n.1160C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909317" }, { "coordinates": [ { "allele": "T", "end": 295, "endIntronDirection": "-", "endIntronOffset": 1350, "referenceAllele": "C", "start": 295, "startIntronDirection": "-", "startIntronOffset": 1351 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000698330.1:n.296-1351C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909318" }, { "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.5:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Arg271Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761897", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.811C>T" }, "RefSeq": { "hgvs": "NM_001270508.2:c.811C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Arg271Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Arg271Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000237289.8:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000237289.4:p.Arg271Ter", "hgvsWellDefined": "ENSP00000237289.4:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248998" }, { "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "C", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000485192.1:n.335C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS324285" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.4:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Arg271Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401513" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000614035.4:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000481122.2:p.Arg271Ter", "hgvsWellDefined": "ENSP00000481122.2:p.Arg271_Gln470delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlySerPheGlyProThrAspSerThrGlnProPheSerValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401998" }, { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000615468.4:c.*165C>T" ], "proteinEffect": { "hgvs": "ENSP00000479556.1:n.*165C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS402631" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000619035.4:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000478438.1:p.Arg271Ter", "hgvsWellDefined": "ENSP00000478438.1:p.Arg271_Gly749delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404194" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000620204.3:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000481454.1:p.Arg271Ter", "hgvsWellDefined": "ENSP00000481454.1:p.Arg271_Val669delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuPheHisArgValGlnArgLysGlnThrPheCysCysCysLeuArgGluSerGlnSerHisSerValGlnValProGluHisHisSerValProGlyGluGlyMetArgHisProTrpLysHisHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404720" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000621150.3:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000484332.2:p.Arg271Ter", "hgvsWellDefined": "ENSP00000484332.2:p.Arg271_Ile531delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuArgGlnProArgProArgProHisLysAlaLeuGlySerArgGluValProSerLeuProProGlyCysTyrGlnAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405145" }, { "@id": "http://reg.genome.network/allele/PA2826521389", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.1:c.811C>T" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Arg271Ter", "hgvsWellDefined": "NP_001257436.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020337" }, { "@id": "http://reg.genome.network/allele/PA2826522358", "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.1:c.811C>T" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Arg271Ter", "hgvsWellDefined": "NP_001257437.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020338" }, { "@id": "http://reg.genome.network/allele/PA279911", "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.3:c.811C>T" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Arg271Ter", "hgvsWellDefined": "NP_006281.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031311" }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_005267119.1:c.811C>T" ], "proteinEffect": { "hgvs": "XP_005267176.1:p.Arg271Ter", "hgvsWellDefined": "XP_005267176.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065299" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_006715555.1:c.172C>T" ], "proteinEffect": { "hgvs": "XP_006715618.1:p.Arg58Ter", "hgvsWellDefined": "XP_006715618.1:p.Arg58_Gly577delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071219" }, { "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536095.1:c.811C>T" ], "proteinEffect": { "hgvs": "XP_011534397.1:p.Arg271Ter", "hgvsWellDefined": "XP_011534397.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103097" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.1:c.811C>T" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Arg271Ter", "hgvsWellDefined": "XP_011534398.1:p.Arg271_Gly689delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103098" }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.2:c.811C>T" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Arg271Ter", "hgvsWellDefined": "XP_011534398.1:p.Arg271_Gly689delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552329" }, { "coordinates": [ { "allele": "T", "end": 4152, "referenceAllele": "C", "start": 4151 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446532.1:c.811C>T" ], "proteinEffect": { "hgvs": "XP_024302300.1:p.Arg271Ter", "hgvsWellDefined": "XP_024302300.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580192" }, { "coordinates": [ { "allele": "T", "end": 1481, "referenceAllele": "C", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446533.1:c.811C>T" ], "proteinEffect": { "hgvs": "XP_024302301.1:p.Arg271Ter", "hgvsWellDefined": "XP_024302301.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580193" }, { "@id": "http://reg.genome.network/allele/PA2826522358", "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.2:c.811C>T" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Arg271Ter", "hgvsWellDefined": "NP_001257437.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.811C>T" }, "RefSeq": { "hgvs": "NM_001270508.2:c.811C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Arg271Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Arg271Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826521389", "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.2:c.811C>T" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Arg271Ter", "hgvsWellDefined": "NP_001257436.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681038" }, { "@id": "http://reg.genome.network/allele/PA279911", "coordinates": [ { "allele": "T", "end": 1062, "referenceAllele": "C", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.4:c.811C>T" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Arg271Ter", "hgvsWellDefined": "NP_006281.1:p.Arg271_Gly790delinsAlaValProLeuValAsnArgAspArgGlyArgPheGluAspLeuLysValHisPheLeuThrAspProGluAsnGluMetLysGluLysLeuLeuLysGluTyrLeuMetValIleGluIleProValGlnGlyTrpAspHisGlyThrThrHisLeuIleAsnAlaAlaLysLeuAspGluAlaAsnLeuProLysGluIleAsnLeuValAspAspTyrPheGluLeuValGlnHisGluTyrLysLysTrpGlnGluAsnSerGluGlnGlyArgArgGluGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696665" } ], "type": "nucleotide" }