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"XP_005250611.1:p.Arg396_Arg763delinsLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgSerTrpThrArgSerAlaHisArgSerValArgLeuGluAspProSerAspGlnSerAspGluMetAspArgGluGlyGlnProLeuGlyHisSerArgLeuValTyrAlaTrpGlnAsnTrpAspAsnProProSerProThrProProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059219" }, { "coordinates": [ { "allele": "A", "end": 433, "endIntronDirection": "-", "endIntronOffset": 182, "referenceAllele": "G", "start": 433, "startIntronDirection": "-", "startIntronOffset": 183 } ], "hgvs": [ "XR_927814.1:n.434-183G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS124219" }, { "@id": "http://reg.genome.network/allele/PA2826287942", "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN011762", "geneNCBI_id": 7036, "geneSymbol": "TFR2", "hgvs": [ "NM_001206855.2:c.673C>T" ], "proteinEffect": { "hgvs": "NP_001193784.1:p.Arg225Ter", "hgvsWellDefined": "NP_001193784.1:p.Arg225_Phe630delinsLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511885" }, { "coordinates": [ { "allele": "T", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN011762", "geneNCBI_id": 7036, "geneSymbol": "TFR2", "hgvs": [ "XM_005250553.4:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_005250610.1:p.Arg396Ter", "hgvsWellDefined": "XP_005250610.1:p.Arg396_Phe801delinsLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533459" }, { "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "C", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN011762", "geneNCBI_id": 7036, "geneSymbol": "TFR2", "hgvs": [ "XM_017012573.1:c.1186C>T" ], "proteinEffect": { "hgvs": "XP_016868062.1:p.Arg396Ter", "hgvsWellDefined": "XP_016868062.1:p.Arg396_Phe801delinsLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566145" }, { "@id": "http://reg.genome.network/allele/PA341971", "coordinates": [ { "allele": "T", "end": 1229, "referenceAllele": "C", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN011762", "geneNCBI_id": 7036, "geneSymbol": "TFR2", "hgvs": [ "NM_003227.4:c.1186C>T" ], "proteinEffect": { "hgvs": "NP_003218.2:p.Arg396Ter", "hgvsWellDefined": "NP_003218.2:p.Arg396_Phe801delinsLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665940", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000223051.8:c.1186C>T" }, "RefSeq": { "hgvs": "NM_003227.4:c.1186C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000223051.3:p.Arg396Ter" }, "RefSeq": { "hgvs": "NP_003218.2:p.Arg396Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826287942", "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN011762", "geneNCBI_id": 7036, "geneSymbol": "TFR2", "hgvs": [ "NM_001206855.3:c.673C>T" ], "proteinEffect": { "hgvs": "NP_001193784.1:p.Arg225Ter", "hgvsWellDefined": "NP_001193784.1:p.Arg225_Phe630delinsLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714238" } ], "type": "nucleotide" }