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"start": 560 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_011533626.3:c.537G>A" ], "proteinEffect": { "hgvs": "XP_011531928.1:p.Trp179Ter", "hgvsWellDefined": "XP_011531928.1:p.Trp180_Thr372delinsLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGlyArgArgGlyArgArgLeuGlyCysMetGluHisIleHisProLeuGluAsnMetIleLysArgCysIleIleSerSerPheValProGlyThrAsnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551320" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "G", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006252.2:c.537G>A" ], "proteinEffect": { "hgvs": "XP_016861741.1:p.Trp179Ter", "hgvsWellDefined": "XP_016861741.1:p.Trp180_Ile428delinsLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561327" }, { "coordinates": [ { "allele": "A", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006253.1:c.462G>A" ], "proteinEffect": { "hgvs": "XP_016861742.1:p.Trp154Ter", "hgvsWellDefined": "XP_016861742.1:p.Trp155_Ile423delinsLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561328" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "G", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006254.2:c.537G>A" ], "proteinEffect": { "hgvs": "XP_016861743.1:p.Trp179Ter", "hgvsWellDefined": "XP_016861743.1:p.Trp180_Leu402delinsLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaPheIleAsnCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561329" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "G", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006255.2:c.537G>A" ], "proteinEffect": { "hgvs": "XP_016861744.1:p.Trp179Ter", "hgvsWellDefined": "XP_016861744.1:p.Trp180_Gln351delinsLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGluAlaValSerTrpAlaValPheTyrSerGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561330" }, { "@id": "http://reg.genome.network/allele/PA2573312310", "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "G", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "NM_182760.4:c.537G>A" ], "proteinEffect": { "hgvs": "NP_877437.2:p.Trp179Ter", "hgvsWellDefined": "NP_877437.2:p.Trp180_Asp374delinsLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673021", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272902.10:c.537G>A" }, "RefSeq": { "hgvs": "NM_182760.4:c.537G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272902.5:p.Trp179Ter" }, "RefSeq": { "hgvs": "NP_877437.2:p.Trp179Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825999714", "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "NM_001164674.2:c.462G>A" ], "proteinEffect": { "hgvs": "NP_001158146.1:p.Trp154Ter", "hgvsWellDefined": "NP_001158146.1:p.Trp155_Asp349delinsLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713113" }, { "@id": "http://reg.genome.network/allele/PA2826000123", "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "G", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "NM_001164675.2:c.537G>A" ], "proteinEffect": { "hgvs": "NP_001158147.1:p.Trp179Ter", "hgvsWellDefined": "NP_001158147.1:p.Trp180_Asp354delinsLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713114" } ], "type": "nucleotide" }