{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041318", "communityStandardTitle": [ "NM_005476.7(GNE):c.916C>T (p.Arg306Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3657349", "active": true, "id": "COSM3657349" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3657350", "active": true, "id": "COSM3657350" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3657351", "active": true, "id": "COSM3657351" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357800[alleleid]", "alleleId": 357800, "preferredName": "NM_005476.7(GNE):c.916C>T (p.Arg306Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370285", "RCV": [ "RCV000409849", "RCV001390114", "RCV001782866" ], "variationId": 370285 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.36233983G>A?assembly=hg19", "id": "chr9:g.36233983G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.36233986G>A?assembly=hg38", "id": "chr9:g.36233986G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516374", "rs": 1057516374 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-36233983-G-A?dataset=gnomad_r2_1", "id": "9-36233983-G-A", "variant": "9:36233983 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-36233986-G-A?dataset=gnomad_r3", "id": "9-36233986-G-A", "variant": "9:36233986 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-36233986-G-A?dataset=gnomad_r4", "id": "9-36233986-G-A", "variant": "9:36233986 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 36233986, "referenceAllele": "G", "start": 36233985 } ], "hgvs": [ "NC_000009.12:g.36233986G>A", "CM000671.2:g.36233986G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 36233983, "referenceAllele": "G", "start": 36233982 } ], "hgvs": [ "NC_000009.11:g.36233983G>A", "CM000671.1:g.36233983G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 36223983, "referenceAllele": "G", "start": 36223982 } ], "hgvs": [ "NC_000009.10:g.36223983G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 48059, "referenceAllele": "C", "start": 48058 } ], "hgvs": [ "NG_008246.1:g.48059C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000977" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1043, "referenceAllele": "C", "start": 1042 } ], "gene": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS759730" }, { "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000642385.2:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000494141.2:p.Arg306Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766712", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642385.2:c.916C>T" }, "RefSeq": { "hgvs": "NM_005476.7:c.916C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494141.2:p.Arg306Ter" }, "RefSeq": { "hgvs": "NP_005467.1:p.Arg306Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000377902.5:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000367134.4:p.Arg306Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS271797" }, { "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000396594.7:c.1009C>T" ], "proteinEffect": { "hgvs": "ENSP00000379839.3:p.Arg337Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS277344" }, { "coordinates": [ { "allele": "T", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000447283.6:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000414760.2:p.Arg306Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS299151" }, { "coordinates": [ { "allele": "A", "end": 611, "endIntronDirection": "-", "endIntronOffset": 29211, "referenceAllele": "G", "start": 611, "startIntronDirection": "-", "startIntronOffset": 29212 } ], "gene": "http://reg.genome.network/gene/GN002090", "geneNCBI_id": 1211, "geneSymbol": "CLTA", "hgvs": [ "ENST00000464497.5:c.486-29212G>A" ], "proteinEffect": { "hgvs": "ENSP00000419158.1:n.486-29212G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS308313" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000539208.5:c.586C>T" ], "proteinEffect": { "hgvs": "ENSP00000445117.1:p.Arg196Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS361731" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000539815.5:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000439155.1:p.Arg306Ter", "hgvsWellDefined": "ENSP00000439155.1:p.Arg306_Tyr722delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362067" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "ENST00000543356.6:c.901C>T" ], "proteinEffect": { "hgvs": "ENSP00000437765.2:p.Arg301Ter", "hgvsWellDefined": "ENSP00000437765.2:p.Arg301_Tyr717delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363956" }, { "@id": "http://reg.genome.network/allele/PA645423786", "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001128227.2:c.1009C>T" ], "proteinEffect": { "hgvs": "NP_001121699.1:p.Arg337Ter", "hgvsWellDefined": "NP_001121699.1:p.Arg337_Tyr753delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011763" }, { "@id": "http://reg.genome.network/allele/PA2826157588", "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190383.1:c.916C>T" ], "proteinEffect": { "hgvs": "NP_001177312.1:p.Arg306Ter", "hgvsWellDefined": "NP_001177312.1:p.Arg306_Tyr648delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016168" }, { "@id": "http://reg.genome.network/allele/PA2826158018", "coordinates": [ { "allele": "T", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190384.1:c.586C>T" ], "proteinEffect": { "hgvs": "NP_001177313.1:p.Arg196Ter", "hgvsWellDefined": "NP_001177313.1:p.Arg196_Tyr612delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016169" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190388.1:c.901C>T" ], "proteinEffect": { "hgvs": "NP_001177317.1:p.Arg301Ter", "hgvsWellDefined": "NP_001177317.1:p.Arg301_Tyr717delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016170" }, { "@id": "http://reg.genome.network/allele/PA2829588412", "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_005476.5:c.916C>T" ], "proteinEffect": { "hgvs": "NP_005467.1:p.Arg306Ter", "hgvsWellDefined": "NP_005467.1:p.Arg306_Tyr722delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030569" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "XM_005251334.3:c.856C>T" ], "proteinEffect": { "hgvs": "XP_005251391.1:p.Arg286Ter", "hgvsWellDefined": "XP_005251391.1:p.Arg286_Tyr702delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059507" }, { "@id": "http://reg.genome.network/allele/PA2826157588", "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190383.2:c.916C>T" ], "proteinEffect": { "hgvs": "NP_001177312.1:p.Arg306Ter", "hgvsWellDefined": "NP_001177312.1:p.Arg306_Tyr648delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511761" }, { "@id": "http://reg.genome.network/allele/PA2826158018", "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190384.2:c.586C>T" ], "proteinEffect": { "hgvs": "NP_001177313.1:p.Arg196Ter", "hgvsWellDefined": "NP_001177313.1:p.Arg196_Tyr612delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511762" }, { "@id": "http://reg.genome.network/allele/PA2829588412", "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_005476.6:c.916C>T" ], "proteinEffect": { "hgvs": "NP_005467.1:p.Arg306Ter", "hgvsWellDefined": "NP_005467.1:p.Arg306_Tyr722delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525317" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "C", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "XM_005251334.4:c.856C>T" ], "proteinEffect": { "hgvs": "XP_005251391.1:p.Arg286Ter", "hgvsWellDefined": "XP_005251391.1:p.Arg286_Tyr702delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533584" }, { "coordinates": [ { "allele": "T", "end": 982, "referenceAllele": "C", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "XM_017014167.1:c.916C>T" ], "proteinEffect": { "hgvs": "XP_016869656.1:p.Arg306Ter", "hgvsWellDefined": "XP_016869656.1:p.Arg306_Tyr722delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567199" }, { "coordinates": [ { "allele": "T", "end": 961, "referenceAllele": "C", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "XM_017014168.1:c.763C>T" ], "proteinEffect": { "hgvs": "XP_016869657.1:p.Arg255Ter", "hgvsWellDefined": "XP_016869657.1:p.Arg255_Tyr671delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567200" }, { "@id": "http://reg.genome.network/allele/PA645423786", "coordinates": [ { "allele": "T", "end": 1043, "referenceAllele": "C", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001128227.3:c.1009C>T" ], "proteinEffect": { "hgvs": "NP_001121699.1:p.Arg337Ter", "hgvsWellDefined": "NP_001121699.1:p.Arg337_Tyr753delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676980", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396594.8:c.1009C>T" }, "RefSeq": { "hgvs": "NM_001128227.3:c.1009C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379839.3:p.Arg337Ter" }, "RefSeq": { "hgvs": "NP_001121699.1:p.Arg337Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826157588", "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190383.3:c.916C>T" ], "proteinEffect": { "hgvs": "NP_001177312.1:p.Arg306Ter", "hgvsWellDefined": "NP_001177312.1:p.Arg306_Tyr648delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679106" }, { "@id": "http://reg.genome.network/allele/PA2826158018", "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190384.3:c.586C>T" ], "proteinEffect": { "hgvs": "NP_001177313.1:p.Arg196Ter", "hgvsWellDefined": "NP_001177313.1:p.Arg196_Tyr612delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679107" }, { "@id": "http://reg.genome.network/allele/PA2826158562", "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001190388.2:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001177317.2:p.Arg247Ter", "hgvsWellDefined": "NP_001177317.2:p.Arg247_Tyr663delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679108" }, { "@id": "http://reg.genome.network/allele/PA2828550119", "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001374797.1:c.763C>T" ], "proteinEffect": { "hgvs": "NP_001361726.1:p.Arg255Ter", "hgvsWellDefined": "NP_001361726.1:p.Arg255_Tyr671delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693367" }, { "@id": "http://reg.genome.network/allele/PA2828551287", "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_001374798.1:c.739C>T" ], "proteinEffect": { "hgvs": "NP_001361727.1:p.Arg247Ter", "hgvsWellDefined": "NP_001361727.1:p.Arg247_Tyr663delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693368" }, { "@id": "http://reg.genome.network/allele/PA2829588412", "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN023657", "geneNCBI_id": 10020, "geneSymbol": "GNE", "hgvs": [ "NM_005476.7:c.916C>T" ], "proteinEffect": { "hgvs": "NP_005467.1:p.Arg306Ter", "hgvsWellDefined": "NP_005467.1:p.Arg306_Tyr722delinsGluValGlyAlaPheGlyThrProValIleAsnLeuGlyThrArgGlnIleGlyArgGluThrGlyGluAsnValLeuHisValArgAspAlaAspThrGlnAspLysIleLeuGlnAlaLeuHisLeuGlnPheGlyLysGlnTyrProCysSerLysIleTyrGlyAspGlyAsnAlaValProArgIleLeuLysPheLeuLysSerIleAspLeuGlnGluProLeuGlnLysLysPheCysPheProProValLysGluAsnIleSerGlnAspIleAspHisIleLeuGluThrLeuSerAlaLeuAlaValAspLeuGlyGlyThrAsnLeuArgValAlaIleValSerMetLysGlyGluIleValLysLysTyrThrGlnPheAsnProLysThrTyrGluGluArgIleAsnLeuIleLeuGlnMetCysValGluAlaAlaAlaGluAlaValLysLeuAsnCysArgIleLeuGlyValGlyIleSerThrGlyGlyArgValAsnProArgGluGlyIleValLeuHisSerThrLysLeuIleGlnGluTrpAsnSerValAspLeuArgThrProLeuSerAspThrLeuHisLeuProValTrpValAspAsnAspGlyAsnCysAlaAlaLeuAlaGluArgLysPheGlyGlnGlyLysGlyLeuGluAsnPheValThrLeuIleThrGlyThrGlyIleGlyGlyGlyIleIleHisGlnHisGluLeuIleHisGlySerSerPheCysAlaAlaGluLeuGlyHisLeuValValSerLeuAspGlyProAspCysSerCysGlySerHisGlyCysIleGluAlaTyrAlaSerGlyMetAlaLeuGlnArgGluAlaLysLysLeuHisAspGluAspLeuLeuLeuValGluGlyMetSerValProLysAspGluAlaValGlyAlaLeuHisLeuIleGlnAlaAlaLysLeuGlyAsnAlaLysAlaGlnSerIleLeuArgThrAlaGlyThrAlaLeuGlyLeuGlyValValAsnIleLeuHisThrMetAsnProSerLeuValIleLeuSerGlyValLeuAlaSerHisTyrIleHisIleValLysAspValIleArgGlnGlnAlaLeuSerSerValGlnAspValAspValValValSerAspLeuValAspProAlaLeuLeuGlyAlaAlaSerMetValLeuAspTyrThrThrArgArgIleTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696430", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642385.2:c.916C>T" }, "RefSeq": { "hgvs": "NM_005476.7:c.916C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494141.2:p.Arg306Ter" }, "RefSeq": { "hgvs": "NP_005467.1:p.Arg306Ter" } } } } ], "type": "nucleotide" }