{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA130373", "communityStandardTitle": [ "NM_003647.3(DGKE):c.127C>T (p.Gln43Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48177[alleleid]", "alleleId": 48177, "preferredName": "NM_003647.3(DGKE):c.127C>T (p.Gln43Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39578", "RCV": [ "RCV000032778" ], "variationId": 39578 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.54912283C>T?assembly=hg19", "id": "chr17:g.54912283C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.56834922C>T?assembly=hg38", "id": "chr17:g.56834922C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398123008", "rs": 398123008 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-56834922-C-T?dataset=gnomad_r4", "id": "17-56834922-C-T", "variant": "17:56834922 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 56834922, "referenceAllele": "C", "start": 56834921 } ], "hgvs": [ "NC_000017.11:g.56834922C>T", "CM000679.2:g.56834922C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 54912283, "referenceAllele": "C", "start": 54912282 } ], "hgvs": [ "NC_000017.10:g.54912283C>T", "CM000679.1:g.54912283C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 52267282, "referenceAllele": "C", "start": 52267281 } ], "hgvs": [ "NC_000017.9:g.52267282C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 5824, "referenceAllele": "C", "start": 5823 } ], "hgvs": [ "NG_033888.1:g.5824C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005574" }, { "coordinates": [ { "allele": "A", "end": 4069, "referenceAllele": "G", "start": 4068 } ], "hgvs": [ "NG_054932.1:g.4069G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617569" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 255, "referenceAllele": "C", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "ENST00000284061.8:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000284061.3:p.Gln43Ter", "hgvsWellDefined": "ENSP00000284061.3:p.Gln43_Glu567delinsArgSerArgArgGlnLeuHisArgArgAspIlePheArgLysSerLysHisGlyTrpArgAspThrAspLeuPheSerGlnProThrTyrCysCysValCysAlaGlnHisIleLeuGlnGlyAlaPheCysAspCysCysGlyLeuArgValAspGluGlyCysLeuArgLysAlaAspLysArgPheGlnCysLysGluIleMetLeuLysAsnAspThrLysValLeuAspAlaMetProHisHisTrpIleArgGlyAsnValProLeuCysSerTyrCysMetValCysLysGlnGlnCysGlyCysGlnProLysLeuCysAspTyrArgCysIleTrpCysGlnLysThrValHisAspGluCysMetLysAsnSerLeuLysAsnGluLysCysAspPheGlyGluPheLysAsnLeuIleIleProProSerTyrLeuThrSerIleAsnGlnMetArgLysAspLysLysThrAspTyrGluValLeuAlaSerLysLeuGlyLysGlnTrpThrProLeuIleIleLeuAlaAsnSerArgSerGlyThrAsnMetGlyGluGlyLeuLeuGlyGluPheArgIleLeuLeuAsnProValGlnValPheAspValThrLysThrProProIleLysAlaLeuGlnLeuCysThrLeuLeuProTyrTyrSerAlaArgValLeuValCysGlyGlyAspGlyThrValGlyTrpValLeuAspAlaValAspAspMetLysIleLysGlyGlnGluLysTyrIleProGlnValAlaValLeuProLeuGlyThrGlyAsnAspLeuSerAsnThrLeuGlyTrpGlyThrGlyTyrAlaGlyGluIleProValAlaGlnValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysAlaValTyrLeuPheTyrGlyThrLysAspCysLeuValGlnGluCysLysAspLeuAsnLysLysValGluLeuGluLeuAspGlyGluArgValAlaLeuProSerLeuGluGlyIleIleValLeuAsnIleGlyTyrTrpGlyGlyGlyCysArgLeuTrpGluGlyMetGlyAspGluThrTyrProLeuAlaArgHisAspAspGlyLeuLeuGluValValGlyValTyrGlySerPheHisCysAlaGlnIleGlnValLysLeuAlaAsnProPheArgIleGlyGlnAlaHisThrValArgLeuIleLeuLysCysSerMetMetProMetGlnValAspGlyGluProTrpAlaGlnGlyProCysThrValThrIleThrHisLysThrHisAlaMetMetLeuTyrPheSerGlyGluGlnThrAspAspAspIleSerSerThrSerAspGlnGluAspIleLysAlaThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743740", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000284061.8:c.127C>T" }, "RefSeq": { "hgvs": "NM_003647.3:c.127C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000284061.3:p.Gln43Ter" }, "RefSeq": { "hgvs": "NP_003638.1:p.Gln43Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "ENST00000284061.7:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000284061.3:p.Gln43Ter", "hgvsWellDefined": "ENSP00000284061.3:p.Gln43_Glu567delinsArgSerArgArgGlnLeuHisArgArgAspIlePheArgLysSerLysHisGlyTrpArgAspThrAspLeuPheSerGlnProThrTyrCysCysValCysAlaGlnHisIleLeuGlnGlyAlaPheCysAspCysCysGlyLeuArgValAspGluGlyCysLeuArgLysAlaAspLysArgPheGlnCysLysGluIleMetLeuLysAsnAspThrLysValLeuAspAlaMetProHisHisTrpIleArgGlyAsnValProLeuCysSerTyrCysMetValCysLysGlnGlnCysGlyCysGlnProLysLeuCysAspTyrArgCysIleTrpCysGlnLysThrValHisAspGluCysMetLysAsnSerLeuLysAsnGluLysCysAspPheGlyGluPheLysAsnLeuIleIleProProSerTyrLeuThrSerIleAsnGlnMetArgLysAspLysLysThrAspTyrGluValLeuAlaSerLysLeuGlyLysGlnTrpThrProLeuIleIleLeuAlaAsnSerArgSerGlyThrAsnMetGlyGluGlyLeuLeuGlyGluPheArgIleLeuLeuAsnProValGlnValPheAspValThrLysThrProProIleLysAlaLeuGlnLeuCysThrLeuLeuProTyrTyrSerAlaArgValLeuValCysGlyGlyAspGlyThrValGlyTrpValLeuAspAlaValAspAspMetLysIleLysGlyGlnGluLysTyrIleProGlnValAlaValLeuProLeuGlyThrGlyAsnAspLeuSerAsnThrLeuGlyTrpGlyThrGlyTyrAlaGlyGluIleProValAlaGlnValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysAlaValTyrLeuPheTyrGlyThrLysAspCysLeuValGlnGluCysLysAspLeuAsnLysLysValGluLeuGluLeuAspGlyGluArgValAlaLeuProSerLeuGluGlyIleIleValLeuAsnIleGlyTyrTrpGlyGlyGlyCysArgLeuTrpGluGlyMetGlyAspGluThrTyrProLeuAlaArgHisAspAspGlyLeuLeuGluValValGlyValTyrGlySerPheHisCysAlaGlnIleGlnValLysLeuAlaAsnProPheArgIleGlyGlnAlaHisThrValArgLeuIleLeuLysCysSerMetMetProMetGlnValAspGlyGluProTrpAlaGlnGlyProCysThrValThrIleThrHisLysThrHisAlaMetMetLeuTyrPheSerGlyGluGlnThrAspAspAspIleSerSerThrSerAspGlnGluAspIleLysAlaThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253202" }, { "coordinates": [ { "allele": "A", "end": 285, "endIntronDirection": "+", "endIntronOffset": 3567, "referenceAllele": "G", "start": 285, "startIntronDirection": "+", "startIntronOffset": 3566 } ], "gene": "http://reg.genome.network/gene/GN027900", "geneNCBI_id": 339210, "geneSymbol": "C17orf67", "hgvs": [ "ENST00000487705.1:n.285+3567G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326212" }, { "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "ENST00000572810.1:c.127C>T" ], "proteinEffect": { "hgvs": "ENSP00000459295.1:p.Gln43Ter", "hgvsWellDefined": "ENSP00000459295.1:p.Gln43_Val177delinsArgSerArgArgGlnLeuHisArgArgAspIlePheArgLysSerLysHisGlyTrpArgAspThrAspLeuPheSerGlnProThrTyrCysCysValCysAlaGlnHisIleLeuGlnGlyAlaPheCysAspCysCysGlyLeuArgValAspGluGlyCysLeuArgLysAlaAspLysArgPheGlnCysLysGluIleMetLeuLysAsnAspThrLysValLeuAspAlaMetProHisHisTrpIleArgGlyAsnValProLeuCysSerTyrCysMetValCysLysGlnGlnCysGlyCysGlnProLysLeuCysAspTyrArgTyrGlyLeuArgGlyHisSerLeuSerGlnAsnAlaProTrpGluSerGlyPheHisArgValValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383051" }, { "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "ENST00000576869.5:n.275C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS384630" }, { "@id": "http://reg.genome.network/allele/PA130374", "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "NM_003647.2:c.127C>T" ], "proteinEffect": { "hgvs": "NP_003638.1:p.Gln43Ter", "hgvsWellDefined": "NP_003638.1:p.Gln43_Glu567delinsArgSerArgArgGlnLeuHisArgArgAspIlePheArgLysSerLysHisGlyTrpArgAspThrAspLeuPheSerGlnProThrTyrCysCysValCysAlaGlnHisIleLeuGlnGlyAlaPheCysAspCysCysGlyLeuArgValAspGluGlyCysLeuArgLysAlaAspLysArgPheGlnCysLysGluIleMetLeuLysAsnAspThrLysValLeuAspAlaMetProHisHisTrpIleArgGlyAsnValProLeuCysSerTyrCysMetValCysLysGlnGlnCysGlyCysGlnProLysLeuCysAspTyrArgCysIleTrpCysGlnLysThrValHisAspGluCysMetLysAsnSerLeuLysAsnGluLysCysAspPheGlyGluPheLysAsnLeuIleIleProProSerTyrLeuThrSerIleAsnGlnMetArgLysAspLysLysThrAspTyrGluValLeuAlaSerLysLeuGlyLysGlnTrpThrProLeuIleIleLeuAlaAsnSerArgSerGlyThrAsnMetGlyGluGlyLeuLeuGlyGluPheArgIleLeuLeuAsnProValGlnValPheAspValThrLysThrProProIleLysAlaLeuGlnLeuCysThrLeuLeuProTyrTyrSerAlaArgValLeuValCysGlyGlyAspGlyThrValGlyTrpValLeuAspAlaValAspAspMetLysIleLysGlyGlnGluLysTyrIleProGlnValAlaValLeuProLeuGlyThrGlyAsnAspLeuSerAsnThrLeuGlyTrpGlyThrGlyTyrAlaGlyGluIleProValAlaGlnValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysAlaValTyrLeuPheTyrGlyThrLysAspCysLeuValGlnGluCysLysAspLeuAsnLysLysValGluLeuGluLeuAspGlyGluArgValAlaLeuProSerLeuGluGlyIleIleValLeuAsnIleGlyTyrTrpGlyGlyGlyCysArgLeuTrpGluGlyMetGlyAspGluThrTyrProLeuAlaArgHisAspAspGlyLeuLeuGluValValGlyValTyrGlySerPheHisCysAlaGlnIleGlnValLysLeuAlaAsnProPheArgIleGlyGlnAlaHisThrValArgLeuIleLeuLysCysSerMetMetProMetGlnValAspGlyGluProTrpAlaGlnGlyProCysThrValThrIleThrHisLysThrHisAlaMetMetLeuTyrPheSerGlyGluGlnThrAspAspAspIleSerSerThrSerAspGlnGluAspIleLysAlaThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028876" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "C", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XM_011525394.1:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011523696.1:p.Gln61Ter", "hgvsWellDefined": "XP_011523696.1:p.Gln61_Glu585delinsArgSerArgArgGlnLeuHisArgArgAspIlePheArgLysSerLysHisGlyTrpArgAspThrAspLeuPheSerGlnProThrTyrCysCysValCysAlaGlnHisIleLeuGlnGlyAlaPheCysAspCysCysGlyLeuArgValAspGluGlyCysLeuArgLysAlaAspLysArgPheGlnCysLysGluIleMetLeuLysAsnAspThrLysValLeuAspAlaMetProHisHisTrpIleArgGlyAsnValProLeuCysSerTyrCysMetValCysLysGlnGlnCysGlyCysGlnProLysLeuCysAspTyrArgCysIleTrpCysGlnLysThrValHisAspGluCysMetLysAsnSerLeuLysAsnGluLysCysAspPheGlyGluPheLysAsnLeuIleIleProProSerTyrLeuThrSerIleAsnGlnMetArgLysAspLysLysThrAspTyrGluValLeuAlaSerLysLeuGlyLysGlnTrpThrProLeuIleIleLeuAlaAsnSerArgSerGlyThrAsnMetGlyGluGlyLeuLeuGlyGluPheArgIleLeuLeuAsnProValGlnValPheAspValThrLysThrProProIleLysAlaLeuGlnLeuCysThrLeuLeuProTyrTyrSerAlaArgValLeuValCysGlyGlyAspGlyThrValGlyTrpValLeuAspAlaValAspAspMetLysIleLysGlyGlnGluLysTyrIleProGlnValAlaValLeuProLeuGlyThrGlyAsnAspLeuSerAsnThrLeuGlyTrpGlyThrGlyTyrAlaGlyGluIleProValAlaGlnValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysAlaValTyrLeuPheTyrGlyThrLysAspCysLeuValGlnGluCysLysAspLeuAsnLysLysValGluLeuGluLeuAspGlyGluArgValAlaLeuProSerLeuGluGlyIleIleValLeuAsnIleGlyTyrTrpGlyGlyGlyCysArgLeuTrpGluGlyMetGlyAspGluThrTyrProLeuAlaArgHisAspAspGlyLeuLeuGluValValGlyValTyrGlySerPheHisCysAlaGlnIleGlnValLysLeuAlaAsnProPheArgIleGlyGlnAlaHisThrValArgLeuIleLeuLysCysSerMetMetProMetGlnValAspGlyGluProTrpAlaGlnGlyProCysThrValThrIleThrHisLysThrHisAlaMetMetLeuTyrPheSerGlyGluGlnThrAspAspAspIleSerSerThrSerAspGlnGluAspIleLysAlaThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092513" }, { "coordinates": [ { "allele": "T", "end": 278, "referenceAllele": "C", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XM_011525395.1:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011523697.1:p.Gln61Ter", "hgvsWellDefined": "XP_011523697.1:p.Gln61_Gly543delinsArgSerArgArgGlnLeuHisArgArgAspIlePheArgLysSerLysHisGlyTrpArgAspThrAspLeuPheSerGlnProThrTyrCysCysValCysAlaGlnHisIleLeuGlnGlyAlaPheCysAspCysCysGlyLeuArgValAspGluGlyCysLeuArgLysAlaAspLysArgPheGlnCysLysGluIleMetLeuLysAsnAspThrLysValLeuAspAlaMetProHisHisTrpIleArgGlyAsnValProLeuCysSerTyrCysMetValCysLysGlnGlnCysGlyCysGlnProLysLeuCysAspTyrArgCysIleTrpCysGlnLysThrValHisAspGluCysMetLysAsnSerLeuLysAsnGluLysCysAspPheGlyGluPheLysAsnLeuIleIleProProSerTyrLeuThrSerIleAsnGlnMetArgLysAspLysLysThrAspTyrGluValLeuAlaSerLysLeuGlyLysGlnTrpThrProLeuIleIleLeuAlaAsnSerArgSerGlyThrAsnMetGlyGluGlyLeuLeuGlyGluPheArgIleLeuLeuAsnProValGlnValPheAspValThrLysThrProProIleLysAlaLeuGlnLeuCysThrLeuLeuProTyrTyrSerAlaArgValLeuValCysGlyGlyAspGlyThrValGlyTrpValLeuAspAlaValAspAspMetLysIleLysGlyGlnGluLysTyrIleProGlnValAlaValLeuProLeuGlyThrGlyAsnAspLeuSerAsnThrLeuGlyTrpGlyThrGlyTyrAlaGlyGluIleProValAlaGlnValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysAlaValTyrLeuPheTyrGlyThrLysAspCysLeuValGlnGluCysLysAspLeuAsnLysLysValGluLeuGluLeuAspGlyGluArgValAlaLeuProSerLeuGluGlyIleIleValLeuAsnIleGlyTyrTrpGlyGlyGlyCysArgLeuTrpGluGlyMetGlyAspGluThrTyrProLeuAlaArgHisAspAspGlyLeuLeuGluValValGlyValTyrGlySerPheHisCysAlaGlnIleGlnValLysLeuAlaAsnProPheArgIleGlyGlnAlaHisThrValArgTrpPheMetAlaHisAlaAlaGlyHisCysThrLeuAlaAlaArgValGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092514" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XM_011525396.1:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011523698.1:p.Gln61Ter", "hgvsWellDefined": "XP_011523698.1:p.Gln61_Glu452delinsArgSerArgArgGlnLeuHisArgArgAspIlePheArgLysSerLysHisGlyTrpArgAspThrAspLeuPheSerGlnProThrTyrCysCysValCysAlaGlnHisIleLeuGlnGlyAlaPheCysAspCysCysGlyLeuArgValAspGluGlyCysLeuArgLysAlaAspLysArgPheGlnCysLysGluIleMetLeuLysAsnAspThrLysValLeuAspAlaMetProHisHisTrpIleArgGlyAsnValProLeuCysSerTyrCysMetValCysLysGlnGlnCysGlyCysGlnProLysLeuCysAspTyrArgCysIleTrpCysGlnLysThrValHisAspGluCysMetLysAsnSerLeuLysAsnGluLysCysAspPheGlyGluPheLysAsnLeuIleIleProProSerTyrLeuThrSerIleAsnGlnMetArgLysAspLysLysThrAspTyrGluValLeuAlaSerLysLeuGlyLysGlnTrpThrProLeuIleIleLeuAlaAsnSerArgSerGlyThrAsnMetGlyGluGlyLeuLeuGlyGluPheArgIleLeuLeuAsnProValGlnValPheAspValThrLysThrProProIleLysAlaLeuGlnLeuCysThrLeuLeuProTyrTyrSerAlaArgValLeuValCysGlyGlyAspGlyThrValGlyTrpValLeuAspAlaValAspAspMetLysIleLysGlyGlnGluLysTyrIleProGlnValAlaValLeuProLeuGlyThrGlyAsnAspLeuSerAsnThrLeuGlyTrpGlyThrGlyTyrAlaGlyGluIleProValAlaGlnValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysAlaValTyrLeuPheTyrGlyThrLysAspCysLeuValGlnGluCysLysAspLeuAsnLysLysValGluAsnTrpMetValSerGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092515" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XM_011525397.1:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011523699.1:p.Gln61Ter", "hgvsWellDefined": "XP_011523699.1:p.Gln61_Phe423delinsArgSerArgArgGlnLeuHisArgArgAspIlePheArgLysSerLysHisGlyTrpArgAspThrAspLeuPheSerGlnProThrTyrCysCysValCysAlaGlnHisIleLeuGlnGlyAlaPheCysAspCysCysGlyLeuArgValAspGluGlyCysLeuArgLysAlaAspLysArgPheGlnCysLysGluIleMetLeuLysAsnAspThrLysValLeuAspAlaMetProHisHisTrpIleArgGlyAsnValProLeuCysSerTyrCysMetValCysLysGlnGlnCysGlyCysGlnProLysLeuCysAspTyrArgCysIleTrpCysGlnLysThrValHisAspGluCysMetLysAsnSerLeuLysAsnGluLysCysAspPheGlyGluPheLysAsnLeuIleIleProProSerTyrLeuThrSerIleAsnGlnMetArgLysAspLysLysThrAspTyrGluValLeuAlaSerLysLeuGlyLysGlnTrpThrProLeuIleIleLeuAlaAsnSerArgSerGlyThrAsnMetGlyGluGlyLeuLeuGlyGluPheArgIleLeuLeuAsnProValGlnValPheAspValThrLysThrProProIleLysAlaLeuGlnLeuCysThrLeuLeuProTyrTyrSerAlaArgValLeuValCysGlyGlyAspGlyThrValGlyTrpValLeuAspAlaValAspAspMetLysIleLysGlyGlnGluLysTyrIleProGlnValAlaValLeuProLeuGlyThrGlyAsnAspLeuSerAsnThrLeuGlyTrpGlyThrGlyTyrAlaGlyGluIleProValAlaGlnValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092516" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "C", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XR_934581.1:n.280C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129878" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XM_011525394.3:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011523696.1:p.Gln61Ter", "hgvsWellDefined": "XP_011523696.1:p.Gln61_Glu585delinsArgSerArgArgGlnLeuHisArgArgAspIlePheArgLysSerLysHisGlyTrpArgAspThrAspLeuPheSerGlnProThrTyrCysCysValCysAlaGlnHisIleLeuGlnGlyAlaPheCysAspCysCysGlyLeuArgValAspGluGlyCysLeuArgLysAlaAspLysArgPheGlnCysLysGluIleMetLeuLysAsnAspThrLysValLeuAspAlaMetProHisHisTrpIleArgGlyAsnValProLeuCysSerTyrCysMetValCysLysGlnGlnCysGlyCysGlnProLysLeuCysAspTyrArgCysIleTrpCysGlnLysThrValHisAspGluCysMetLysAsnSerLeuLysAsnGluLysCysAspPheGlyGluPheLysAsnLeuIleIleProProSerTyrLeuThrSerIleAsnGlnMetArgLysAspLysLysThrAspTyrGluValLeuAlaSerLysLeuGlyLysGlnTrpThrProLeuIleIleLeuAlaAsnSerArgSerGlyThrAsnMetGlyGluGlyLeuLeuGlyGluPheArgIleLeuLeuAsnProValGlnValPheAspValThrLysThrProProIleLysAlaLeuGlnLeuCysThrLeuLeuProTyrTyrSerAlaArgValLeuValCysGlyGlyAspGlyThrValGlyTrpValLeuAspAlaValAspAspMetLysIleLysGlyGlnGluLysTyrIleProGlnValAlaValLeuProLeuGlyThrGlyAsnAspLeuSerAsnThrLeuGlyTrpGlyThrGlyTyrAlaGlyGluIleProValAlaGlnValLeuArgAsnValMetGluAlaAspGlyIleLysLeuAspArgTrpLysValGlnValThrAsnLysGlyTyrTyrAsnLeuArgLysProLysGluPheThrMetAsnAsnTyrPheSerValGlyProAspAlaLeuMetAlaLeuAsnPheHisAlaHisArgGluLysAlaProSerLeuPheSerSerArgIleLeuAsnLysAlaValTyrLeuPheTyrGlyThrLysAspCysLeuValGlnGluCysLysAspLeuAsnLysLysValGluLeuGluLeuAspGlyGluArgValAlaLeuProSerLeuGluGlyIleIleValLeuAsnIleGlyTyrTrpGlyGlyGlyCysArgLeuTrpGluGlyMetGlyAspGluThrTyrProLeuAlaArgHisAspAspGlyLeuLeuGluValValGlyValTyrGlySerPheHisCysAlaGlnIleGlnValLysLeuAlaAsnProPheArgIleGlyGlnAlaHisThrValArgLeuIleLeuLysCysSerMetMetProMetGlnValAspGlyGluProTrpAlaGlnGlyProCysThrValThrIleThrHisLysThrHisAlaMetMetLeuTyrPheSerGlyGluGlnThrAspAspAspIleSerSerThrSerAspGlnGluAspIleLysAlaThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547863" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XM_011525395.2:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011523697.1:p.Gln61Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS547864" }, { "coordinates": [ { "allele": "T", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XM_011525396.2:c.181C>T" ], "proteinEffect": { "hgvs": "XP_011523698.1:p.Gln61Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS547865" }, { "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XM_017025243.2:c.127C>T" ], "proteinEffect": { "hgvs": "XP_016880732.1:p.Gln43Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS575620" }, { "coordinates": [ { "allele": "T", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XM_017025244.2:c.181C>T" ], "proteinEffect": { "hgvs": "XP_016880733.1:p.Gln61Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS575621" }, { "coordinates": [ { "allele": "T", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XR_001752670.2:n.313C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599344" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XR_001752671.1:n.292C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599345" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XR_001752672.1:n.293C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS599346" }, { "coordinates": [ { "allele": "T", "end": 291, "referenceAllele": "C", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "XR_002958079.1:n.291C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604206" }, { "@id": "http://reg.genome.network/allele/PA130374", "coordinates": [ { "allele": "T", "end": 255, "referenceAllele": "C", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN002852", "geneNCBI_id": 8526, "geneSymbol": "DGKE", "hgvs": [ "NM_003647.3:c.127C>T" ], "proteinEffect": { "hgvs": "NP_003638.1:p.Gln43Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS666116", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000284061.8:c.127C>T" }, "RefSeq": { "hgvs": "NM_003647.3:c.127C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000284061.3:p.Gln43Ter" }, "RefSeq": { "hgvs": "NP_003638.1:p.Gln43Ter" } } } } ], "type": "nucleotide" }