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"XP_016861742.1:p.Arg211_Ile423delinsGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561328" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006254.2:c.706C>T" ], "proteinEffect": { "hgvs": "XP_016861743.1:p.Arg236Ter", "hgvsWellDefined": "XP_016861743.1:p.Arg236_Leu402delinsGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaPheIleAsnCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561329" }, { "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006255.2:c.706C>T" ], "proteinEffect": { "hgvs": "XP_016861744.1:p.Arg236Ter", "hgvsWellDefined": "XP_016861744.1:p.Arg236_Gln351delinsGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGluAlaValSerTrpAlaValPheTyrSerGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561330" }, { "@id": "http://reg.genome.network/allele/PA2573100652", "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "NM_182760.4:c.706C>T" ], "proteinEffect": { "hgvs": "NP_877437.2:p.Arg236Ter", "hgvsWellDefined": "NP_877437.2:p.Arg236_Asp374delinsGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673021", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272902.10:c.706C>T" }, "RefSeq": { "hgvs": "NM_182760.4:c.706C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272902.5:p.Arg236Ter" }, "RefSeq": { "hgvs": "NP_877437.2:p.Arg236Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825999772", "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "C", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "NM_001164674.2:c.631C>T" ], "proteinEffect": { "hgvs": "NP_001158146.1:p.Arg211Ter", "hgvsWellDefined": "NP_001158146.1:p.Arg211_Asp349delinsGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713113" }, { "@id": "http://reg.genome.network/allele/PA2826000183", "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "NM_001164675.2:c.706C>T" ], "proteinEffect": { "hgvs": "NP_001158147.1:p.Arg236Ter", "hgvsWellDefined": "NP_001158147.1:p.Arg236_Asp354delinsGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713114" } ], "type": "nucleotide" }