{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5056751", "communityStandardTitle": [ "NM_005476.7(GNE):c.175C>T (p.Arg59Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=270173[alleleid]", "alleleId": 270173, "preferredName": "NM_005476.7(GNE):c.175C>T (p.Arg59Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285936", "RCV": [ "RCV000593290", "RCV000725751", "RCV001034690" ], "variationId": 285936 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-36246469-G-A", "id": "9-36246469-G-A", "variant": "9:36246469 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.36246469G>A?assembly=hg19", "id": "chr9:g.36246469G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.36246472G>A?assembly=hg38", "id": "chr9:g.36246472G>A" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS271797" }, { "coordinates": [ { "allele": "T", "end": 380, "referenceAllele": "C", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000396594.7:c.268C>T" ], "proteinEffect": { "hgvs": "ENSP00000379839.3:p.Arg90Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277344" }, { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000447283.6:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000414760.2:p.Arg59Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS299151" }, { "coordinates": [ { "allele": "A", "end": 611, "endIntronDirection": "-", "endIntronOffset": 16725, "referenceAllele": "G", "start": 611, "startIntronDirection": "-", "startIntronOffset": 16726 } ], "gene": "http://reg.genome.network/gene/GN002090", "geneNCBI_id": 1211, "geneSymbol": "CLTA", "hgvs": [ "ENST00000464497.5:c.486-16726G>A" ], "proteinEffect": { "hgvs": "ENSP00000419158.1:n.486-16726G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS308313" }, { "coordinates": [ { "allele": "T", "end": 136, "referenceAllele": "C", "start": 135 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000539208.5:c.-3C>T" ], "proteinEffect": { "hgvs": "ENSP00000445117.1:n.-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS361731" }, { "coordinates": [ { "allele": "T", "end": 216, "referenceAllele": "C", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000539815.5:c.175C>T" ], "proteinEffect": { "hgvs": "ENSP00000439155.1:p.Arg59Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS362067" }, { "coordinates": [ { "allele": "T", "end": 160, "referenceAllele": "C", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000543356.6:c.160C>T" ], "proteinEffect": { "hgvs": "ENSP00000437765.2:p.Arg54Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS363956" }, { "@id": "http://reg.genome.network/allele/PA645510829", "coordinates": [ { "allele": "T", "end": 380, "referenceAllele": "C", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001128227.2:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001121699.1:p.Arg90Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS011763" }, { "@id": "http://reg.genome.network/allele/PA2826157397", "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190383.1:c.175C>T" ], "proteinEffect": { "hgvs": "NP_001177312.1:p.Arg59Ter", "hgvsWellDefined": "NP_001177312.1:p.Arg59_Tyr648delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlyAspAspValLysSerLysAspTyrIleValAlaLeuGlnHisProValThrThrAspIleLysHisSerIleLysMetPheGluLeuThrLeuAspAlaLeuIleSerPheAsnLysArgThrLeuValLeuPheProAsnIleAspAlaGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016168" }, { "coordinates": [ { "allele": "T", "end": 190, "referenceAllele": "C", "start": 189 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190384.1:c.-3C>T" ], "proteinEffect": { "hgvs": "NP_001177313.1:n.-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS016169" }, { "coordinates": [ { "allele": "T", "end": 174, "referenceAllele": "C", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190388.1:c.160C>T" ], "proteinEffect": { "hgvs": "NP_001177317.1:p.Arg54Ter", "hgvsWellDefined": "NP_001177317.1:p.Arg54_Tyr717delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlyAspAspValLysSerLysAspTyrIleValAlaLeuGlnHisProValThrThrAspIleLysHisSerIleLysMetPheGluLeuThrLeuAspAlaLeuIleSerPheAsnLysArgThrLeuValLeuPheProAsnIleAspAlaGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016170" }, { "@id": "http://reg.genome.network/allele/PA2829587997", "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_005476.5:c.175C>T" ], "proteinEffect": { "hgvs": "NP_005467.1:p.Arg59Ter", "hgvsWellDefined": "NP_005467.1:p.Arg59_Tyr722delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlyAspAspValLysSerLysAspTyrIleValAlaLeuGlnHisProValThrThrAspIleLysHisSerIleLysMetPheGluLeuThrLeuAspAlaLeuIleSerPheAsnLysArgThrLeuValLeuPheProAsnIleAspAlaGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030569" }, { "coordinates": [ { "allele": "T", "end": 380, "referenceAllele": "C", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "XM_005251334.3:c.268C>T" ], "proteinEffect": { "hgvs": "XP_005251391.1:p.Arg90Ter", "hgvsWellDefined": "XP_005251391.1:p.Arg90_Tyr702delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059507" }, { "@id": "http://reg.genome.network/allele/PA2826157397", "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190383.2:c.175C>T" ], "proteinEffect": { "hgvs": "NP_001177312.1:p.Arg59Ter", "hgvsWellDefined": "NP_001177312.1:p.Arg59_Tyr648delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlyAspAspValLysSerLysAspTyrIleValAlaLeuGlnHisProValThrThrAspIleLysHisSerIleLysMetPheGluLeuThrLeuAspAlaLeuIleSerPheAsnLysArgThrLeuValLeuPheProAsnIleAspAlaGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511761" }, { "coordinates": [ { "allele": "T", "end": 139, "referenceAllele": "C", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190384.2:c.-3C>T" ], "proteinEffect": { "hgvs": "NP_001177313.1:n.-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511762" }, { "@id": "http://reg.genome.network/allele/PA2829587997", "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_005476.6:c.175C>T" ], "proteinEffect": { "hgvs": "NP_005467.1:p.Arg59Ter", "hgvsWellDefined": "NP_005467.1:p.Arg59_Tyr722delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlyAspAspValLysSerLysAspTyrIleValAlaLeuGlnHisProValThrThrAspIleLysHisSerIleLysMetPheGluLeuThrLeuAspAlaLeuIleSerPheAsnLysArgThrLeuValLeuPheProAsnIleAspAlaGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525317" }, { "coordinates": [ { "allele": "T", "end": 380, "referenceAllele": "C", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "XM_005251334.4:c.268C>T" ], "proteinEffect": { "hgvs": "XP_005251391.1:p.Arg90Ter", "hgvsWellDefined": "XP_005251391.1:p.Arg90_Tyr702delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533584" }, { "coordinates": [ { "allele": "T", "end": 241, "referenceAllele": "C", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "XM_017014167.1:c.175C>T" ], "proteinEffect": { "hgvs": "XP_016869656.1:p.Arg59Ter", "hgvsWellDefined": "XP_016869656.1:p.Arg59_Tyr722delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlyAspAspValLysSerLysAspTyrIleValAlaLeuGlnHisProValThrThrAspIleLysHisSerIleLysMetPheGluLeuThrLeuAspAlaLeuIleSerPheAsnLysArgThrLeuValLeuPheProAsnIleAspAlaGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567199" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "XM_017014168.1:c.175C>T" ], "proteinEffect": { "hgvs": "XP_016869657.1:p.Arg59Ter", "hgvsWellDefined": "XP_016869657.1:p.Arg59_Tyr671delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567200" }, { "@id": "http://reg.genome.network/allele/PA645510829", "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "C", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001128227.3:c.268C>T" ], "proteinEffect": { "hgvs": "NP_001121699.1:p.Arg90Ter", "hgvsWellDefined": "NP_001121699.1:p.Arg90_Tyr753delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlyAspAspValLysSerLysAspTyrIleValAlaLeuGlnHisProValThrThrAspIleLysHisSerIleLysMetPheGluLeuThrLeuAspAlaLeuIleSerPheAsnLysArgThrLeuValLeuPheProAsnIleAspAlaGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676980", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396594.8:c.268C>T" }, "RefSeq": { "hgvs": "NM_001128227.3:c.268C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379839.3:p.Arg90Ter" }, "RefSeq": { "hgvs": "NP_001121699.1:p.Arg90Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826157397", "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190383.3:c.175C>T" ], "proteinEffect": { "hgvs": "NP_001177312.1:p.Arg59Ter", "hgvsWellDefined": "NP_001177312.1:p.Arg59_Tyr648delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlyAspAspValLysSerLysAspTyrIleValAlaLeuGlnHisProValThrThrAspIleLysHisSerIleLysMetPheGluLeuThrLeuAspAlaLeuIleSerPheAsnLysArgThrLeuValLeuPheProAsnIleAspAlaGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679106" }, { "coordinates": [ { "allele": "T", "end": 139, "referenceAllele": "C", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190384.3:c.-3C>T" ], "proteinEffect": { "hgvs": "NP_001177313.1:n.-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS679107" }, { "coordinates": [ { "allele": "T", "end": 96, "referenceAllele": "C", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190388.2:c.-3C>T" ], "proteinEffect": { "hgvs": "NP_001177317.2:n.-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS679108" }, { "@id": "http://reg.genome.network/allele/PA2828549815", "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001374797.1:c.175C>T" ], "proteinEffect": { "hgvs": "NP_001361726.1:p.Arg59Ter", "hgvsWellDefined": "NP_001361726.1:p.Arg59_Tyr671delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693367" }, { "coordinates": [ { "allele": "T", "end": 139, "referenceAllele": "C", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001374798.1:c.-3C>T" ], "proteinEffect": { "hgvs": "NP_001361727.1:n.-3C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693368" }, { "@id": "http://reg.genome.network/allele/PA2829587997", "coordinates": [ { "allele": "T", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_005476.7:c.175C>T" ], "proteinEffect": { "hgvs": "NP_005467.1:p.Arg59Ter", "hgvsWellDefined": "NP_005467.1:p.Arg59_Tyr722delinsMetIleGluGlnAspAspPheAspIleAsnThrArgLeuHisThrIleValArgGlyGluAspGluAlaAlaMetValGluSerValGlyLeuAlaLeuValLysLeuProAspValLeuAsnArgLeuLysProAspIleMetIleValHisGlyAspArgPheAspAlaLeuAlaLeuAlaThrSerAlaAlaLeuMetAsnIleArgIleLeuHisIleGluGlyGlyGluValSerGlyThrIleAspAspSerIleArgHisAlaIleThrLysLeuAlaHisTyrHisValCysCysThrArgSerAlaGluGlnHisLeuIleSerMetCysGluAspHisAspArgIleLeuLeuAlaGlyCysProSerTyrAspLysLeuLeuSerAlaLysAsnLysAspTyrMetSerIleIleArgMetTrpLeuGlyAspAspValLysSerLysAspTyrIleValAlaLeuGlnHisProValThrThrAspIleLysHisSerIleLysMetPheGluLeuThrLeuAspAlaLeuIleSerPheAsnLysArgThrLeuValLeuPheProAsnIleAspAlaGlySerLysGluMetValArgValMetArgLysLysGlyIleGluHisHisProAsnPheArgAlaValLysHisValProPheAspGlnPheIleGlnLeuValAlaHisAlaGlyCysMetIleGlyAsnSerSerCysGlyValArgGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696430", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642385.2:c.175C>T" }, "RefSeq": { "hgvs": "NM_005476.7:c.175C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494141.2:p.Arg59Ter" }, "RefSeq": { "hgvs": "NP_005467.1:p.Arg59Ter" } } } } ], "type": "nucleotide" }