{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA395785394", "communityStandardTitle": [ "NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1678073[alleleid]", "alleleId": 1678073, "preferredName": "NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1686061", "RCV": [ "RCV002250228" ], "variationId": 1686061 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47682523C>A?assembly=hg19", "id": "chr16:g.47682523C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47648612C>A?assembly=hg38", "id": "chr16:g.47648612C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1292721679", "rs": 1292721679 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47648612-C-A?dataset=gnomad_r4", "id": "16-47648612-C-A", "variant": "16:47648612 C / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 47648612, "referenceAllele": "C", "start": 47648611 } ], "hgvs": [ "NC_000016.10:g.47648612C>A", "CM000678.2:g.47648612C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 47682523, "referenceAllele": "C", "start": 47682522 } ], "hgvs": [ "NC_000016.9:g.47682523C>A", "CM000678.1:g.47682523C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 46240024, "referenceAllele": "C", "start": 46240023 } ], "hgvs": [ "NC_000016.8:g.46240024C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 192314, "referenceAllele": "C", "start": 192313 } ], "hgvs": [ "NG_016598.1:g.192314C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003224" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1908, "referenceAllele": "C", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000696809.1:c.*262C>A" ], "proteinEffect": { "hgvs": "ENSP00000512887.1:n.*262C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908253" }, { "coordinates": [ { "allele": "A", "end": 1835, "referenceAllele": "C", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000699276.1:c.1667C>A" ], "proteinEffect": { "hgvs": "ENSP00000514257.1:p.Ser556Ter", "hgvsWellDefined": "ENSP00000514257.1:p.Ser556_Lys813delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValGlyCysThrProCysSerLysSerPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910216" }, { "coordinates": [ { "allele": "A", "end": 1708, "referenceAllele": "C", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.10:c.1688C>A" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Ser563Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Ser563_Ser1093delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1688C>A" }, "RefSeq": { "hgvs": "NM_000293.3:c.1688C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Ser563Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Ser563Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1713, "referenceAllele": "C", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000299167.12:c.1688C>A" ], "proteinEffect": { "hgvs": "ENSP00000299167.8:p.Ser563Ter", "hgvsWellDefined": "ENSP00000299167.8:p.Ser563_Ser1093delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254676" }, { "coordinates": [ { "allele": "A", "end": 1712, "referenceAllele": "C", "start": 1711 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.9:c.1688C>A" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Ser563Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Ser563_Ser1093delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258228" }, { "coordinates": [ { "allele": "A", "end": 1856, "referenceAllele": "C", "start": 1855 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000566044.5:c.1667C>A" ], "proteinEffect": { "hgvs": "ENSP00000456729.1:p.Ser556Ter", "hgvsWellDefined": "ENSP00000456729.1:p.Ser556_Ser1086delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379145" }, { "@id": "http://reg.genome.network/allele/PA2825107887", "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "C", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.2:c.1688C>A" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Ser563Ter", "hgvsWellDefined": "NP_000284.1:p.Ser563_Ser1093delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006354" }, { "@id": "http://reg.genome.network/allele/PA2825357041", "coordinates": [ { "allele": "A", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.2:c.1667C>A" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Ser556Ter", "hgvsWellDefined": "NP_001027005.1:p.Ser556_Ser1086delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009041" }, { "coordinates": [ { "allele": "A", "end": 1703, "referenceAllele": "C", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.3:c.1688C>A" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Ser563Ter", "hgvsWellDefined": "XP_005256040.1:p.Ser563_Ser1093delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061111" }, { "coordinates": [ { "allele": "A", "end": 1866, "referenceAllele": "C", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.3:c.1667C>A" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Ser556Ter", "hgvsWellDefined": "XP_005256041.1:p.Ser556_Ser1086delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061112" }, { "coordinates": [ { "allele": "A", "end": 1703, "referenceAllele": "C", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523106.1:c.1688C>A" ], "proteinEffect": { "hgvs": "XP_011521408.1:p.Ser563Ter", "hgvsWellDefined": "XP_011521408.1:p.Ser563_Trp779delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090246" }, { "coordinates": [ { "allele": "A", "end": 390, "referenceAllele": "C", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523107.1:c.266C>A" ], "proteinEffect": { "hgvs": "XP_011521409.1:p.Ser89Ter", "hgvsWellDefined": "XP_011521409.1:p.Ser89_Ser619delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090247" }, { "@id": "http://reg.genome.network/allele/PA2573208976", "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "C", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001363837.1:c.1688C>A" ], "proteinEffect": { "hgvs": "NP_001350766.1:p.Ser563Ter", "hgvsWellDefined": "NP_001350766.1:p.Ser563_Ser1093delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523593" }, { "coordinates": [ { "allele": "A", "end": 1703, "referenceAllele": "C", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.4:c.1688C>A" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Ser563Ter", "hgvsWellDefined": "XP_005256040.1:p.Ser563_Ser1093delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534361" }, { "coordinates": [ { "allele": "A", "end": 2003, "referenceAllele": "C", "start": 2002 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.4:c.1667C>A" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Ser556Ter", "hgvsWellDefined": "XP_005256041.1:p.Ser556_Ser1086delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534362" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "C", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023282.1:c.575C>A" ], "proteinEffect": { "hgvs": "XP_016878771.1:p.Ser192Ter", "hgvsWellDefined": "XP_016878771.1:p.Ser192_Ser722delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574072" }, { "coordinates": [ { "allele": "A", "end": 1908, "referenceAllele": "C", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023283.1:c.266C>A" ], "proteinEffect": { "hgvs": "XP_016878772.1:p.Ser89Ter", "hgvsWellDefined": "XP_016878772.1:p.Ser89_Ser619delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574073" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "C", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023284.1:c.266C>A" ], "proteinEffect": { "hgvs": "XP_016878773.1:p.Ser89Ter", "hgvsWellDefined": "XP_016878773.1:p.Ser89_Ser619delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574074" }, { "coordinates": [ { "allele": "A", "end": 1703, "referenceAllele": "C", "start": 1702 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XR_001751913.1:n.1703C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598701" }, { "@id": "http://reg.genome.network/allele/PA2825107887", "coordinates": [ { "allele": "A", "end": 1708, "referenceAllele": "C", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.3:c.1688C>A" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Ser563Ter", "hgvsWellDefined": "NP_000284.1:p.Ser563_Ser1093delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662390", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1688C>A" }, "RefSeq": { "hgvs": "NM_000293.3:c.1688C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Ser563Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Ser563Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825357041", "coordinates": [ { "allele": "A", "end": 1820, "referenceAllele": "C", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.3:c.1667C>A" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Ser556Ter", "hgvsWellDefined": "NP_001027005.1:p.Ser556_Ser1086delinsLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675749" } ], "type": "nucleotide" }