{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8040760", "communityStandardTitle": [ "NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691937[alleleid]", "alleleId": 1691937, "preferredName": "NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1699565", "RCV": [ "RCV002273422", "RCV003096156" ], "variationId": 1699565 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-47630364-C-T", "id": "16-47630364-C-T", "variant": "16:47630364 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47630364C>T?assembly=hg19", "id": "chr16:g.47630364C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47596453C>T?assembly=hg38", "id": "chr16:g.47596453C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/563345848", "rs": 563345848 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47630364-C-T?dataset=gnomad_r2_1", "id": "16-47630364-C-T", "variant": "16:47630364 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47596453-C-T?dataset=gnomad_r3", "id": "16-47596453-C-T", "variant": "16:47596453 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47596453-C-T?dataset=gnomad_r4", "id": "16-47596453-C-T", "variant": "16:47596453 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47596453, "referenceAllele": "C", "start": 47596452 } ], "hgvs": [ "NC_000016.10:g.47596453C>T", "CM000678.2:g.47596453C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47630364, "referenceAllele": "C", "start": 47630363 } ], "hgvs": [ "NC_000016.9:g.47630364C>T", "CM000678.1:g.47630364C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 46187865, "referenceAllele": "C", "start": 46187864 } ], "hgvs": [ "NC_000016.8:g.46187865C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 140155, "referenceAllele": "C", "start": 140154 } ], "hgvs": [ "NG_016598.1:g.140155C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003224" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000696809.1:c.1264C>T" ], "proteinEffect": { "hgvs": "ENSP00000512887.1:p.Arg422Ter", "hgvsWellDefined": "ENSP00000512887.1:p.Arg422_Lys495delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnLysTyrPheLeuThrThrSerPheValGlnIleIleAspThrArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908253" }, { "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000699276.1:c.1264C>T" ], "proteinEffect": { "hgvs": "ENSP00000514257.1:p.Arg422Ter", "hgvsWellDefined": "ENSP00000514257.1:p.Arg422_Lys813delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValGlyCysThrProCysSerLysSerPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910216" }, { "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.10:c.1285C>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Arg429Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1285C>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.1285C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Arg429Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Arg429Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1310, "referenceAllele": "C", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000299167.12:c.1285C>T" ], "proteinEffect": { "hgvs": "ENSP00000299167.8:p.Arg429Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS254676" }, { "coordinates": [ { "allele": "T", "end": 1309, "referenceAllele": "C", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.9:c.1285C>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Arg429Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS258228" }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000566044.5:c.1264C>T" ], "proteinEffect": { "hgvs": "ENSP00000456729.1:p.Arg422Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS379145" }, { "coordinates": [ { "allele": "T", "end": 146, "referenceAllele": "C", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000566436.1:n.146C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS379437" }, { "coordinates": [ { "allele": "T", "end": 26, "referenceAllele": "C", "start": 25 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000568439.1:c.26C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS380784" }, { "@id": "http://reg.genome.network/allele/PA2825107812", "coordinates": [ { "allele": "T", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.2:c.1285C>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Arg429Ter", "hgvsWellDefined": "NP_000284.1:p.Arg429_Ser1093delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006354" }, { "@id": "http://reg.genome.network/allele/PA2825356930", "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.2:c.1264C>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Arg422Ter", "hgvsWellDefined": "NP_001027005.1:p.Arg422_Ser1086delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009041" }, { "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "C", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.3:c.1285C>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Arg429Ter", "hgvsWellDefined": "XP_005256040.1:p.Arg429_Ser1093delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061111" }, { "coordinates": [ { "allele": "T", "end": 1463, "referenceAllele": "C", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.3:c.1264C>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Arg422Ter", "hgvsWellDefined": "XP_005256041.1:p.Arg422_Ser1086delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061112" }, { "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "C", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523106.1:c.1285C>T" ], "proteinEffect": { "hgvs": "XP_011521408.1:p.Arg429Ter", "hgvsWellDefined": "XP_011521408.1:p.Arg429_Trp779delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090246" }, { "@id": "http://reg.genome.network/allele/PA2580219716", "coordinates": [ { "allele": "T", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001363837.1:c.1285C>T" ], "proteinEffect": { "hgvs": "NP_001350766.1:p.Arg429Ter", "hgvsWellDefined": "NP_001350766.1:p.Arg429_Ser1093delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523593" }, { "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "C", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.4:c.1285C>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Arg429Ter", "hgvsWellDefined": "XP_005256040.1:p.Arg429_Ser1093delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534361" }, { "coordinates": [ { "allele": "T", "end": 1600, "referenceAllele": "C", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.4:c.1264C>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Arg422Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS534362" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023282.1:c.172C>T" ], "proteinEffect": { "hgvs": "XP_016878771.1:p.Arg58Ter", "hgvsWellDefined": "XP_016878771.1:p.Arg58_Ser722delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574072" }, { "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "C", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023283.1:c.-221C>T" ], "proteinEffect": { "hgvs": "XP_016878772.1:n.-221C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574073" }, { "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "C", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023284.1:c.-221C>T" ], "proteinEffect": { "hgvs": "XP_016878773.1:n.-221C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574074" }, { "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "C", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XR_001751913.1:n.1300C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598701" }, { "@id": "http://reg.genome.network/allele/PA2825107812", "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.3:c.1285C>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Arg429Ter", "hgvsWellDefined": "NP_000284.1:p.Arg429_Ser1093delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662390", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1285C>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.1285C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Arg429Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Arg429Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825356930", "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.3:c.1264C>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Arg422Ter", "hgvsWellDefined": "NP_001027005.1:p.Arg422_Ser1086delinsPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675749" } ], "type": "nucleotide" }