{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA365788561", "communityStandardTitle": [ "NM_001270508.2(TNFAIP3):c.1096G>T (p.Glu366Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2478082[alleleid]", "alleleId": 2478082, "preferredName": "NM_001270508.2(TNFAIP3):c.1096G>T (p.Glu366Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2500101", "RCV": [ "RCV003224748" ], "variationId": 2500101 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.138199678G>T?assembly=hg19", "id": "chr6:g.138199678G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.137878541G>T?assembly=hg38", "id": "chr6:g.137878541G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2482750192", "rs": 2482750192 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 137878541, "referenceAllele": "G", "start": 137878540 } ], "hgvs": [ "NC_000006.12:g.137878541G>T", "CM000668.2:g.137878541G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 138199678, "referenceAllele": "G", "start": 138199677 } ], "hgvs": [ "NC_000006.11:g.138199678G>T", "CM000668.1:g.138199678G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 138241371, "referenceAllele": "G", "start": 138241370 } ], "hgvs": [ "NC_000006.10:g.138241371G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 16098, "referenceAllele": "G", "start": 16097 } ], "hgvs": [ "NG_032761.1:g.16098G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005208" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1308, "referenceAllele": "G", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000420009.6:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000401562.2:p.Glu366Ter", "hgvsWellDefined": "ENSP00000401562.2:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914035" }, { "coordinates": [ { "allele": "T", "end": 1447, "referenceAllele": "G", "start": 1446 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000711061.1:c.*819G>T" ], "proteinEffect": { "hgvs": "ENSP00000518561.1:n.*819G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914581" }, { "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "G", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000421450.2:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000393577.2:p.Glu366Ter", "hgvsWellDefined": "ENSP00000393577.2:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904763" }, { "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "G", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000433680.2:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000409845.2:p.Glu366Ter", "hgvsWellDefined": "ENSP00000409845.2:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904854" }, { "coordinates": [ { "allele": "T", "end": 1717, "referenceAllele": "G", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000485192.2:n.1717G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905325" }, { "coordinates": [ { "allele": "T", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000698329.1:n.1445G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909317" }, { "coordinates": [ { "allele": "T", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.5:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Glu366Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761897", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.1096G>T" }, "RefSeq": { "hgvs": "NM_001270508.2:c.1096G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Glu366Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Glu366Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000237289.8:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000237289.4:p.Glu366Ter", "hgvsWellDefined": "ENSP00000237289.4:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248998" }, { "coordinates": [ { "allele": "T", "end": 1466, "referenceAllele": "G", "start": 1465 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000612899.4:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000481570.1:p.Glu366Ter", "hgvsWellDefined": "ENSP00000481570.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401513" }, { "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000614035.4:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000481122.2:p.Glu366Ter", "hgvsWellDefined": "ENSP00000481122.2:p.Glu366_Gln470delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlySerPheGlyProThrAspSerThrGlnProPheSerValGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401998" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "G", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000615468.4:c.*450G>T" ], "proteinEffect": { "hgvs": "ENSP00000479556.1:n.*450G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS402631" }, { "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000619035.4:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000478438.1:p.Glu366Ter", "hgvsWellDefined": "ENSP00000478438.1:p.Glu366_Gly749delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404194" }, { "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000620204.3:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000481454.1:p.Glu366Ter", "hgvsWellDefined": "ENSP00000481454.1:p.Glu366_Val669delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuPheHisArgValGlnArgLysGlnThrPheCysCysCysLeuArgGluSerGlnSerHisSerValGlnValProGluHisHisSerValProGlyGluGlyMetArgHisProTrpLysHisHisValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404720" }, { "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "ENST00000621150.3:c.1096G>T" ], "proteinEffect": { "hgvs": "ENSP00000484332.2:p.Glu366Ter", "hgvsWellDefined": "ENSP00000484332.2:p.Glu366_Ile531delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuArgGlnProArgProArgProHisLysAlaLeuGlySerArgGluValProSerLeuProProGlyCysTyrGlnAspIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405145" }, { "@id": "http://reg.genome.network/allele/PA2826521492", "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "G", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.1:c.1096G>T" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Glu366Ter", "hgvsWellDefined": "NP_001257436.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020337" }, { "@id": "http://reg.genome.network/allele/PA2826522460", "coordinates": [ { "allele": "T", "end": 1466, "referenceAllele": "G", "start": 1465 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.1:c.1096G>T" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Glu366Ter", "hgvsWellDefined": "NP_001257437.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020338" }, { "@id": "http://reg.genome.network/allele/PA2580337624", "coordinates": [ { "allele": "T", "end": 1418, "referenceAllele": "G", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.3:c.1096G>T" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Glu366Ter", "hgvsWellDefined": "NP_006281.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031311" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "G", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_005267119.1:c.1096G>T" ], "proteinEffect": { "hgvs": "XP_005267176.1:p.Glu366Ter", "hgvsWellDefined": "XP_005267176.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065299" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "G", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_006715555.1:c.457G>T" ], "proteinEffect": { "hgvs": "XP_006715618.1:p.Glu153Ter", "hgvsWellDefined": "XP_006715618.1:p.Glu153_Gly577delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071219" }, { "coordinates": [ { "allele": "T", "end": 1461, "referenceAllele": "G", "start": 1460 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536095.1:c.1096G>T" ], "proteinEffect": { "hgvs": "XP_011534397.1:p.Glu366Ter", "hgvsWellDefined": "XP_011534397.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103097" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "G", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.1:c.1096G>T" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Glu366Ter", "hgvsWellDefined": "XP_011534398.1:p.Glu366_Gly689delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103098" }, { "coordinates": [ { "allele": "T", "end": 1436, "referenceAllele": "G", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_011536096.2:c.1096G>T" ], "proteinEffect": { "hgvs": "XP_011534398.1:p.Glu366Ter", "hgvsWellDefined": "XP_011534398.1:p.Glu366_Gly689delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysGlnIleGluProAlaGlnArgCysAlaSerAsnHisThrLysHisLeuLysAlaGlnValArgProGlyLeuLeuGlnGluHisProGlyLeuProGlnArgGlyAlaLeuHisGlyValSerAlaSerGlnProGluAspGlyProTrpGlyProProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552329" }, { "coordinates": [ { "allele": "T", "end": 4437, "referenceAllele": "G", "start": 4436 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446532.1:c.1096G>T" ], "proteinEffect": { "hgvs": "XP_024302300.1:p.Glu366Ter", "hgvsWellDefined": "XP_024302300.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580192" }, { "coordinates": [ { "allele": "T", "end": 1766, "referenceAllele": "G", "start": 1765 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "XM_024446533.1:c.1096G>T" ], "proteinEffect": { "hgvs": "XP_024302301.1:p.Glu366Ter", "hgvsWellDefined": "XP_024302301.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580193" }, { "@id": "http://reg.genome.network/allele/PA2826522460", "coordinates": [ { "allele": "T", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270508.2:c.1096G>T" ], "proteinEffect": { "hgvs": "NP_001257437.1:p.Glu366Ter", "hgvsWellDefined": "NP_001257437.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664125", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000612899.5:c.1096G>T" }, "RefSeq": { "hgvs": "NM_001270508.2:c.1096G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000481570.1:p.Glu366Ter" }, "RefSeq": { "hgvs": "NP_001257437.1:p.Glu366Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826521492", "coordinates": [ { "allele": "T", "end": 1371, "referenceAllele": "G", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_001270507.2:c.1096G>T" ], "proteinEffect": { "hgvs": "NP_001257436.1:p.Glu366Ter", "hgvsWellDefined": "NP_001257436.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681038" }, { "@id": "http://reg.genome.network/allele/PA2580337624", "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "G", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN011896", "geneNCBI_id": 7128, "geneSymbol": "TNFAIP3", "hgvs": [ "NM_006290.4:c.1096G>T" ], "proteinEffect": { "hgvs": "NP_006281.1:p.Glu366Ter", "hgvsWellDefined": "NP_006281.1:p.Glu366_Gly790delinsGlyHisAlaGlnAsnProMetGluProSerValProGlnLeuSerLeuMetAspValLysCysGluThrProAsnCysProPhePheMetSerValAsnThrGlnProLeuCysHisGluCysSerGluArgArgGlnLysAsnGlnAsnLysLeuProLysLeuAsnSerLysProGlyProGluGlyLeuProGlyMetAlaLeuGlyAlaSerArgGlyGluAlaTyrGluProLeuAlaTrpAsnProGluGluSerThrGlyGlyProHisSerAlaProProThrAlaProSerProPheLeuPheSerGluThrThrAlaMetLysCysArgSerProGlyCysProPheThrLeuAsnValGlnHisAsnGlyPheCysGluArgCysHisAsnAlaArgGlnLeuHisAlaSerHisAlaProAspHisThrArgHisLeuAspProGlyLysCysGlnAlaCysLeuGlnAspValThrArgThrPheAsnGlyIleCysSerThrCysPheLysArgThrThrAlaGluAlaSerSerSerLeuSerThrSerLeuProProSerCysHisGlnArgSerLysSerAspProSerArgLeuValArgSerProSerProHisSerCysHisArgAlaGlyAsnAspAlaProAlaGlyCysLeuSerGlnAlaAlaArgThrProGlyAspArgThrGlyThrSerLysCysArgLysAlaGlyCysValTyrPheGlyThrProGluAsnLysGlyPheCysThrLeuCysPheIleGluTyrArgGluAsnLysHisPheAlaAlaAlaSerGlyLysValSerProThrAlaSerArgPheGlnAsnThrIleProCysLeuGlyArgGluCysGlyThrLeuGlySerThrMetPheGluGlyTyrCysGlnLysCysPheIleGluAlaGlnAsnGlnArgPheHisGluAlaLysArgThrGluGluGlnLeuArgSerSerGlnArgArgAspValProArgThrThrGlnSerThrSerArgProLysCysAlaArgAlaSerCysLysAsnIleLeuAlaCysArgSerGluGluLeuCysMetGluCysGlnHisProAsnGlnArgMetGlyProGlyAlaHisArgGlyGluProAlaProGluAspProProLysGlnArgCysArgAlaProAlaCysAspHisPheGlyAsnAlaLysCysAsnGlyTyrCysAsnGluCysPheGlnPheLysGlnMetTyrGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696665" } ], "type": "nucleotide" }