{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA395799726", "communityStandardTitle": [ "NM_000293.3(PHKB):c.1230T>G (p.Tyr410Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2976651[alleleid]", "alleleId": 2976651, "preferredName": "NM_000293.3(PHKB):c.1230T>G (p.Tyr410Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2815981", "RCV": [ "RCV003627891" ], "variationId": 2815981 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47630309T>G?assembly=hg19", "id": "chr16:g.47630309T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47596398T>G?assembly=hg38", "id": "chr16:g.47596398T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2506401975", "rs": 2506401975 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 47596398, "referenceAllele": "T", "start": 47596397 } ], "hgvs": [ "NC_000016.10:g.47596398T>G", "CM000678.2:g.47596398T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 47630309, "referenceAllele": "T", "start": 47630308 } ], "hgvs": [ "NC_000016.9:g.47630309T>G", "CM000678.1:g.47630309T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 46187810, "referenceAllele": "T", "start": 46187809 } ], "hgvs": [ "NC_000016.8:g.46187810T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "G", "end": 140100, "referenceAllele": "T", "start": 140099 } ], "hgvs": [ "NG_016598.1:g.140100T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003224" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1367, "referenceAllele": "T", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000696809.1:c.1209T>G" ], "proteinEffect": { "hgvs": "ENSP00000512887.1:p.Tyr403Ter", "hgvsWellDefined": "ENSP00000512887.1:p.Tyr404_Lys495delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnLysTyrPheLeuThrThrSerPheValGlnIleIleAspThrArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908253" }, { "coordinates": [ { "allele": "G", "end": 1377, "referenceAllele": "T", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000699276.1:c.1209T>G" ], "proteinEffect": { "hgvs": "ENSP00000514257.1:p.Tyr403Ter", "hgvsWellDefined": "ENSP00000514257.1:p.Tyr404_Lys813delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValGlyCysThrProCysSerLysSerPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910216" }, { "coordinates": [ { "allele": "G", "end": 1250, "referenceAllele": "T", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.10:c.1230T>G" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Tyr410Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Tyr411_Ser1093delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1230T>G" }, "RefSeq": { "hgvs": "NM_000293.3:c.1230T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Tyr410Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Tyr410Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1255, "referenceAllele": "T", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000299167.12:c.1230T>G" ], "proteinEffect": { "hgvs": "ENSP00000299167.8:p.Tyr410Ter", "hgvsWellDefined": "ENSP00000299167.8:p.Tyr411_Ser1093delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254676" }, { "coordinates": [ { "allele": "G", "end": 1254, "referenceAllele": "T", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.9:c.1230T>G" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Tyr410Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Tyr411_Ser1093delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258228" }, { "coordinates": [ { "allele": "G", "end": 1398, "referenceAllele": "T", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000566044.5:c.1209T>G" ], "proteinEffect": { "hgvs": "ENSP00000456729.1:p.Tyr403Ter", "hgvsWellDefined": "ENSP00000456729.1:p.Tyr404_Ser1086delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379145" }, { "coordinates": [ { "allele": "G", "end": 91, "referenceAllele": "T", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000566436.1:n.91T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS379437" }, { "@id": "http://reg.genome.network/allele/PA2825107803", "coordinates": [ { "allele": "G", "end": 1282, "referenceAllele": "T", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.2:c.1230T>G" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Tyr410Ter", "hgvsWellDefined": "NP_000284.1:p.Tyr411_Ser1093delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006354" }, { "@id": "http://reg.genome.network/allele/PA2825356915", "coordinates": [ { "allele": "G", "end": 1394, "referenceAllele": "T", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.2:c.1209T>G" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Tyr403Ter", "hgvsWellDefined": "NP_001027005.1:p.Tyr404_Ser1086delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009041" }, { "coordinates": [ { "allele": "G", "end": 1245, "referenceAllele": "T", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.3:c.1230T>G" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Tyr410Ter", "hgvsWellDefined": "XP_005256040.1:p.Tyr411_Ser1093delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061111" }, { "coordinates": [ { "allele": "G", "end": 1408, "referenceAllele": "T", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.3:c.1209T>G" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Tyr403Ter", "hgvsWellDefined": "XP_005256041.1:p.Tyr404_Ser1086delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061112" }, { "coordinates": [ { "allele": "G", "end": 1245, "referenceAllele": "T", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523106.1:c.1230T>G" ], "proteinEffect": { "hgvs": "XP_011521408.1:p.Tyr410Ter", "hgvsWellDefined": "XP_011521408.1:p.Tyr411_Trp779delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090246" }, { "@id": "http://reg.genome.network/allele/PA2741870395", "coordinates": [ { "allele": "G", "end": 1282, "referenceAllele": "T", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001363837.1:c.1230T>G" ], "proteinEffect": { "hgvs": "NP_001350766.1:p.Tyr410Ter", "hgvsWellDefined": "NP_001350766.1:p.Tyr411_Ser1093delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523593" }, { "coordinates": [ { "allele": "G", "end": 1245, "referenceAllele": "T", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.4:c.1230T>G" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Tyr410Ter", "hgvsWellDefined": "XP_005256040.1:p.Tyr411_Ser1093delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534361" }, { "coordinates": [ { "allele": "G", "end": 1545, "referenceAllele": "T", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.4:c.1209T>G" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Tyr403Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS534362" }, { "coordinates": [ { "allele": "G", "end": 539, "referenceAllele": "T", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023282.1:c.117T>G" ], "proteinEffect": { "hgvs": "XP_016878771.1:p.Tyr39Ter", "hgvsWellDefined": "XP_016878771.1:p.Tyr40_Ser722delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574072" }, { "coordinates": [ { "allele": "G", "end": 1367, "referenceAllele": "T", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023283.1:c.-276T>G" ], "proteinEffect": { "hgvs": "XP_016878772.1:n.-276T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS574073" }, { "coordinates": [ { "allele": "G", "end": 1248, "referenceAllele": "T", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023284.1:c.-276T>G" ], "proteinEffect": { "hgvs": "XP_016878773.1:n.-276T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS574074" }, { "coordinates": [ { "allele": "G", "end": 1245, "referenceAllele": "T", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XR_001751913.1:n.1245T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS598701" }, { "@id": "http://reg.genome.network/allele/PA2825107803", "coordinates": [ { "allele": "G", "end": 1250, "referenceAllele": "T", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.3:c.1230T>G" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Tyr410Ter", "hgvsWellDefined": "NP_000284.1:p.Tyr411_Ser1093delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662390", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1230T>G" }, "RefSeq": { "hgvs": "NM_000293.3:c.1230T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Tyr410Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Tyr410Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825356915", "coordinates": [ { "allele": "G", "end": 1362, "referenceAllele": "T", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.3:c.1209T>G" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Tyr403Ter", "hgvsWellDefined": "NP_001027005.1:p.Tyr404_Ser1086delinsValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675749" } ], "type": "nucleotide" }