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"NP_006087.2:p.Arg148_Cys394delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031135" }, { "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "C", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN007679", "geneNCBI_id": 10397, "geneSymbol": "NDRG1", "hgvs": [ "XM_011516791.1:c.442C>T" ], "proteinEffect": { "hgvs": "XP_011515093.1:p.Arg148Ter", "hgvsWellDefined": "XP_011515093.1:p.Arg148_Cys411delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysValArgTrpGlyProValArgProAlaGlySerLeuGlnGluGluGlyGlnIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083991" }, { "@id": "http://reg.genome.network/allele/PA340340", "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "C", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN007679", "geneNCBI_id": 10397, "geneSymbol": "NDRG1", "hgvs": [ "NM_001135242.2:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001128714.1:p.Arg148Ter", "hgvsWellDefined": "NP_001128714.1:p.Arg148_Cys394delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677299" }, { "@id": "http://reg.genome.network/allele/PA915984893", "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "C", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007679", "geneNCBI_id": 10397, "geneSymbol": "NDRG1", "hgvs": [ "NM_001258432.2:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001245361.1:p.Arg82Ter", "hgvsWellDefined": "NP_001245361.1:p.Arg82_Cys328delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680846" }, { "@id": "http://reg.genome.network/allele/PA2826473395", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN007679", "geneNCBI_id": 10397, "geneSymbol": "NDRG1", "hgvs": [ "NM_001258433.2:c.199C>T" ], "proteinEffect": { "hgvs": "NP_001245362.1:p.Arg67Ter", "hgvsWellDefined": "NP_001245362.1:p.Arg67_Cys313delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680847" }, { "@id": "http://reg.genome.network/allele/PA2828556336", "coordinates": [ { "allele": "T", "end": 579, "referenceAllele": "C", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN007679", "geneNCBI_id": 10397, "geneSymbol": "NDRG1", "hgvs": [ "NM_001374844.1:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001361773.1:p.Arg148Ter", "hgvsWellDefined": "NP_001361773.1:p.Arg148_Cys411delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysValArgTrpGlyProValArgProAlaGlySerLeuGlnGluGluGlyGlnIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693393" }, { "@id": "http://reg.genome.network/allele/PA2828556613", "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "C", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN007679", "geneNCBI_id": 10397, "geneSymbol": "NDRG1", "hgvs": [ "NM_001374845.1:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001361774.1:p.Arg148Ter", "hgvsWellDefined": "NP_001361774.1:p.Arg148_Cys394delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693394" }, { "@id": "http://reg.genome.network/allele/PA2828557009", "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN007679", "geneNCBI_id": 10397, "geneSymbol": "NDRG1", "hgvs": [ "NM_001374846.1:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001361775.1:p.Arg148Ter", "hgvsWellDefined": "NP_001361775.1:p.Arg148_Cys394delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693395" }, { "@id": "http://reg.genome.network/allele/PA2573073445", "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "C", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN007679", "geneNCBI_id": 10397, "geneSymbol": "NDRG1", "hgvs": [ "NM_001374847.1:c.244C>T" ], "proteinEffect": { "hgvs": "NP_001361776.1:p.Arg82Ter", "hgvsWellDefined": "NP_001361776.1:p.Arg82_Cys328delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693396" }, { "@id": "http://reg.genome.network/allele/PA340341", "coordinates": [ { "allele": "T", "end": 579, "referenceAllele": "C", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN007679", "geneNCBI_id": 10397, "geneSymbol": "NDRG1", "hgvs": [ "NM_006096.4:c.442C>T" ], "proteinEffect": { "hgvs": "NP_006087.2:p.Arg148Ter", "hgvsWellDefined": "NP_006087.2:p.Arg148_Cys394delinsPheAlaLeuAsnAsnProGluMetValGluGlyLeuValLeuIleAsnValAsnProCysAlaGluGlyTrpMetAspTrpAlaAlaSerLysIleSerGlyTrpThrGlnAlaLeuProAspMetValValSerHisLeuPheGlyLysGluGluMetGlnSerAsnValGluValValHisThrTyrArgGlnHisIleValAsnAspMetAsnProGlyAsnLeuHisLeuPheIleAsnAlaTyrAsnSerArgArgAspLeuGluIleGluArgProMetProGlyThrHisThrValThrLeuGlnCysProAlaLeuLeuValValGlyAspSerSerProAlaValAspAlaValValGluCysAsnSerLysLeuAspProThrLysThrThrLeuLeuLysMetAlaAspCysGlyGlyLeuProGlnIleSerGlnProAlaLysLeuAlaGluAlaPheLysTyrPheValGlnGlyMetGlyTyrMetProSerAlaSerMetThrArgLeuMetArgSerArgThrAlaSerGlySerSerValThrSerLeuAspGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGlyAlaHisLeuAspIleThrProAsnSerGlyAlaAlaGlyAsnSerAlaGlyProLysSerMetGluValSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696611", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323851.13:c.442C>T" }, "RefSeq": { "hgvs": "NM_006096.4:c.442C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000319977.8:p.Arg148Ter" }, "RefSeq": { "hgvs": "NP_006087.2:p.Arg148Ter" } } } } ], "type": "nucleotide" }