{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA395795535", "communityStandardTitle": [ "NM_000293.3(PHKB):c.856G>T (p.Glu286Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4846913", "active": true, "id": "COSM4846913" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4846915", "active": true, "id": "COSM4846915" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2900923[alleleid]", "alleleId": 2900923, "preferredName": "NM_000293.3(PHKB):c.856G>T (p.Glu286Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2744454", "RCV": [ "RCV003514793" ], "variationId": 2744454 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47621660G>T?assembly=hg19", "id": "chr16:g.47621660G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47587749G>T?assembly=hg38", "id": "chr16:g.47587749G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2506372380", "rs": 2506372380 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47587749-G-T?dataset=gnomad_r4", "id": "16-47587749-G-T", "variant": "16:47587749 G / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47587749, "referenceAllele": "G", "start": 47587748 } ], "hgvs": [ "NC_000016.10:g.47587749G>T", "CM000678.2:g.47587749G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47621660, "referenceAllele": "G", "start": 47621659 } ], "hgvs": [ "NC_000016.9:g.47621660G>T", "CM000678.1:g.47621660G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 46179161, "referenceAllele": "G", "start": 46179160 } ], "hgvs": [ "NC_000016.8:g.46179161G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 131451, "referenceAllele": "G", "start": 131450 } ], "hgvs": [ "NG_016598.1:g.131451G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003224" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "G", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000696809.1:c.835G>T" ], "proteinEffect": { "hgvs": "ENSP00000512887.1:p.Glu279Ter", "hgvsWellDefined": "ENSP00000512887.1:p.Glu279_Lys495delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnLysTyrPheLeuThrThrSerPheValGlnIleIleAspThrArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908253" }, { "coordinates": [ { "allele": "T", "end": 1003, "referenceAllele": "G", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000699276.1:c.835G>T" ], "proteinEffect": { "hgvs": "ENSP00000514257.1:p.Glu279Ter", "hgvsWellDefined": "ENSP00000514257.1:p.Glu279_Lys813delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValGlyCysThrProCysSerLysSerPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910216" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "G", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.10:c.856G>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Glu286Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Glu286_Ser1093delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.856G>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.856G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Glu286Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Glu286Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 881, "referenceAllele": "G", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000299167.12:c.856G>T" ], "proteinEffect": { "hgvs": "ENSP00000299167.8:p.Glu286Ter", "hgvsWellDefined": "ENSP00000299167.8:p.Glu286_Ser1093delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254676" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "G", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.9:c.856G>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Glu286Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Glu286_Ser1093delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258228" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000566044.5:c.835G>T" ], "proteinEffect": { "hgvs": "ENSP00000456729.1:p.Glu279Ter", "hgvsWellDefined": "ENSP00000456729.1:p.Glu279_Ser1086delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379145" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000567402.5:n.871G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS380088" }, { "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "G", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000570047.2:c.788G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS381873" }, { "@id": "http://reg.genome.network/allele/PA2825107754", "coordinates": [ { "allele": "T", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.2:c.856G>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Glu286Ter", "hgvsWellDefined": "NP_000284.1:p.Glu286_Ser1093delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006354" }, { "@id": "http://reg.genome.network/allele/PA2825356851", "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "G", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.2:c.835G>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Glu279Ter", "hgvsWellDefined": "NP_001027005.1:p.Glu279_Ser1086delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009041" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.3:c.856G>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Glu286Ter", "hgvsWellDefined": "XP_005256040.1:p.Glu286_Ser1093delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061111" }, { "coordinates": [ { "allele": "T", "end": 1034, "referenceAllele": "G", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.3:c.835G>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Glu279Ter", "hgvsWellDefined": "XP_005256041.1:p.Glu279_Ser1086delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061112" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523106.1:c.856G>T" ], "proteinEffect": { "hgvs": "XP_011521408.1:p.Glu286Ter", "hgvsWellDefined": "XP_011521408.1:p.Glu286_Trp779delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090246" }, { "@id": "http://reg.genome.network/allele/PA2741870387", "coordinates": [ { "allele": "T", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001363837.1:c.856G>T" ], "proteinEffect": { "hgvs": "NP_001350766.1:p.Glu286Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523593" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.4:c.856G>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Glu286Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS534361" }, { "coordinates": [ { "allele": "T", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.4:c.835G>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Glu279Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS534362" }, { "coordinates": [ { "allele": "T", "end": 165, "referenceAllele": "G", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023282.1:c.-258G>T" ], "proteinEffect": { "hgvs": "XP_016878771.1:n.-258G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574072" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "G", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023283.1:c.-650G>T" ], "proteinEffect": { "hgvs": "XP_016878772.1:n.-650G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574073" }, { "coordinates": [ { "allele": "T", "end": 874, "referenceAllele": "G", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023284.1:c.-650G>T" ], "proteinEffect": { "hgvs": "XP_016878773.1:n.-650G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574074" }, { "coordinates": [ { "allele": "T", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XR_001751913.1:n.871G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598701" }, { "@id": "http://reg.genome.network/allele/PA2825107754", "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "G", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.3:c.856G>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Glu286Ter", "hgvsWellDefined": "NP_000284.1:p.Glu286_Ser1093delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662390", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.856G>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.856G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Glu286Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Glu286Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825356851", "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "G", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.3:c.835G>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Glu279Ter", "hgvsWellDefined": "NP_001027005.1:p.Glu279_Ser1086delinsSerArgSerHisAsnThrAspAlaAlaLeuLeuProCysIleSerTyrProAlaPheAlaLeuAspAspGluValLeuPheSerGlnThrLeuAspLysValValArgLysLeuLysGlyLysTyrGlyPheLysArgPheLeuArgAspGlyTyrArgThrSerLeuGluAspProAsnArgCysTyrTyrLysProAlaGluIleLysLeuPheAspGlyIleGluCysGluPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675749" } ], "type": "nucleotide" }