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"XM_011533626.3:c.451A>T" ], "proteinEffect": { "hgvs": "XP_011531928.1:p.Lys151Ter", "hgvsWellDefined": "XP_011531928.1:p.Lys151_Thr372delinsPheGlyAspSerPheValPheGluGlyMetLeuSerGluGlnValLysThrAsnIleGlnGlnAlaValAlaAlaAlaProTrpTrpLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGlyArgArgGlyArgArgLeuGlyCysMetGluHisIleHisProLeuGluAsnMetIleLysArgCysIleIleSerSerPheValProGlyThrAsnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551320" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006252.2:c.451A>T" ], "proteinEffect": { "hgvs": "XP_016861741.1:p.Lys151Ter", "hgvsWellDefined": "XP_016861741.1:p.Lys151_Ile428delinsPheGlyAspSerPheValPheGluGlyMetLeuSerGluGlnValLysThrAsnIleGlnGlnAlaValAlaAlaAlaProTrpTrpLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaGluAlaGlnArgLeuSerLeuProProCysGlyAlaAsnGlyLeuGlyLysAsnThrSerPheArgMetGluAspPheAsnLeuSerPheLeuPheGlnLeuCysAspPheArgGlnAspIlePheAlaPheTrpThrLeuSerPhePheIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561327" }, { "coordinates": [ { "allele": "T", "end": 469, "endIntronDirection": "+", "endIntronOffset": 3542, "referenceAllele": "A", "start": 469, "startIntronDirection": "+", "startIntronOffset": 3541 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006253.1:c.444+3542A>T" ], "proteinEffect": { "hgvs": "XP_016861742.1:n.444+3542A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS561328" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006254.2:c.451A>T" ], "proteinEffect": { "hgvs": "XP_016861743.1:p.Lys151Ter", "hgvsWellDefined": "XP_016861743.1:p.Lys151_Leu402delinsPheGlyAspSerPheValPheGluGlyMetLeuSerGluGlnValLysThrAsnIleGlnGlnAlaValAlaAlaAlaProTrpTrpLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgSerGlnGluTyrTyrAspProTyrPheGlnAspValAlaSerGluMetLeuArgArgHisThrAlaSerArgTrpLysAlaPheSerSerLeuGluProCysCysSerIleArgArgHisGlnGlnTyrAlaAlaIleGluArgLeuThrCysGlyLysPheGluLeuArgCysAlaPheIleAsnCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561329" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "XM_017006255.2:c.451A>T" ], "proteinEffect": { "hgvs": "XP_016861744.1:p.Lys151Ter", "hgvsWellDefined": "XP_016861744.1:p.Lys151_Gln351delinsPheGlyAspSerPheValPheGluGlyMetLeuSerGluGlnValLysThrAsnIleGlnGlnAlaValAlaAlaAlaProTrpTrpLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProLysGlyProProSerGlyLysAspArgValLysLysGlyGlySerTyrMetCysHisArgGluAlaValSerTrpAlaValPheTyrSerGlyProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561330" }, { "@id": "http://reg.genome.network/allele/PA2499302460", "coordinates": [ { 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"referenceSequence": "http://reg.genome.network/refseq/RS673021", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000272902.10:c.451A>T" }, "RefSeq": { "hgvs": "NM_182760.4:c.451A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000272902.5:p.Lys151Ter" }, "RefSeq": { "hgvs": "NP_877437.2:p.Lys151Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 468, "endIntronDirection": "+", "endIntronOffset": 3542, "referenceAllele": "A", "start": 468, "startIntronDirection": "+", "startIntronOffset": 3541 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "NM_001164674.2:c.444+3542A>T" ], "proteinEffect": { "hgvs": "NP_001158146.1:n.444+3542A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713113" }, { "@id": "http://reg.genome.network/allele/PA2826000096", "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "A", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN020376", "geneNCBI_id": 285362, "geneSymbol": "SUMF1", "hgvs": [ "NM_001164675.2:c.451A>T" ], "proteinEffect": { "hgvs": "NP_001158147.1:p.Lys151Ter", "hgvsWellDefined": "NP_001158147.1:p.Lys151_Asp354delinsPheGlyAspSerPheValPheGluGlyMetLeuSerGluGlnValLysThrAsnIleGlnGlnAlaValAlaAlaAlaProTrpTrpLeuProValLysGlyAlaAsnTrpArgHisProGluGlyProAspSerThrIleLeuHisArgProAspHisProValLeuHisValSerTrpAsnAspAlaValAlaTyrCysThrTrpAlaGlyLysArgLeuProThrGluAlaGluTrpGluTyrSerCysArgGlyGlyLeuHisAsnArgLeuPheProTrpGlyAsnLysLeuGlnProLysGlyGlnHisTyrAlaAsnIleTrpGlnGlyGluPheProValThrAsnThrGlyGluAspGlyPheGlnGlyThrAlaProValAspAlaPheProProAsnGlyTyrGlyLeuTyrAsnIleValGlyAsnAlaTrpGluTrpThrSerAspTrpTrpThrValHisHisSerValGluGluThrLeuAsnProSerTyrCysTyrArgTyrArgCysAlaAlaArgSerGlnAsnThrProAspSerSerAlaSerAsnLeuGlyPheArgCysAlaAlaAspArgLeuProThrMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713114" } ], "type": "nucleotide" }