{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397155450", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1018193[alleleid]", "alleleId": 1018193, "preferredName": "NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029215", "RCV": [ "RCV001330445" ], "variationId": 1029215 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89347805G>C?assembly=hg19", "id": "chr16:g.89347805G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89281397G>C?assembly=hg38", "id": "chr16:g.89281397G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1298649064", "rs": 1298649064 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "C", "end": 89281397, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752067" }, { "coordinates": [ { "allele": "G", "end": 5521, "referenceAllele": "C", "start": 5520 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642600.1:c.5145C>G" ], "proteinEffect": { "hgvs": "ENSP00000495226.1:p.Tyr1715Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "G", "end": 744, "endIntronDirection": "-", "endIntronOffset": 6205, "referenceAllele": "C", "start": 744, "startIntronDirection": "-", "startIntronOffset": 6206 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.745-6206C>G" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.745-6206C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "G", "end": 5606, "referenceAllele": "C", "start": 5605 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.5145C>G" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Tyr1715Ter", "hgvsWellDefined": "ENSP00000301030.4:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "G", "end": 5365, "referenceAllele": "C", "start": 5364 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*4948C>G" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*4948C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "G", "end": 5434, "referenceAllele": "C", "start": 5433 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.5145C>G" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Tyr1715Ter", "hgvsWellDefined": "ENSP00000367581.2:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "G", "end": 151, "endIntronDirection": "-", "endIntronOffset": 6205, "referenceAllele": "C", "start": 151, "startIntronDirection": "-", "startIntronOffset": 6206 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.152-6206C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826373919", "coordinates": [ { "allele": "G", "end": 5677, "referenceAllele": "C", "start": 5676 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.5145C>G" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Tyr1715Ter", "hgvsWellDefined": "NP_001243111.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826375770", "coordinates": [ { "allele": "G", "end": 5603, "referenceAllele": "C", "start": 5602 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.5145C>G" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Tyr1715Ter", "hgvsWellDefined": "NP_001243112.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA2499277139", "coordinates": [ { "allele": "G", "end": 5606, "referenceAllele": "C", "start": 5605 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.5145C>G" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Tyr1715Ter", "hgvsWellDefined": "NP_037407.4:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "G", "end": 5383, "referenceAllele": "C", "start": 5382 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.5043C>G" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Tyr1681Ter", "hgvsWellDefined": "XP_006721244.1:p.Tyr1681_Ala2629delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "G", "end": 5421, "referenceAllele": "C", "start": 5420 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.4848C>G" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Tyr1616Ter", "hgvsWellDefined": "XP_006721247.1:p.Tyr1616_Ala2564delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "G", "end": 5663, "referenceAllele": "C", "start": 5662 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_011521353.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "G", "end": 5368, "referenceAllele": "C", "start": 5367 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_011521354.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "G", "end": 5801, "referenceAllele": "C", "start": 5800 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_011521355.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "G", "end": 5716, "referenceAllele": "C", "start": 5715 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.5043C>G" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Tyr1681Ter", "hgvsWellDefined": "XP_011521356.1:p.Tyr1681_Ala2629delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "G", "end": 5989, "referenceAllele": "C", "start": 5988 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.5043C>G" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Tyr1681Ter", "hgvsWellDefined": "XP_011521357.1:p.Tyr1681_Ala2629delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "G", "end": 5738, "referenceAllele": "C", "start": 5737 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.5016C>G" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Tyr1672Ter", "hgvsWellDefined": "XP_011521358.1:p.Tyr1672_Ala2620delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "G", "end": 5618, "referenceAllele": "C", "start": 5617 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_011521359.1:p.Tyr1715_Pro2613delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "G", "end": 5667, "referenceAllele": "C", "start": 5666 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_011521353.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "G", "end": 5772, "referenceAllele": "C", "start": 5771 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_011521355.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "G", "end": 5686, "referenceAllele": "C", "start": 5685 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.5043C>G" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Tyr1681Ter", "hgvsWellDefined": "XP_011521356.1:p.Tyr1681_Ala2629delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "G", "end": 5971, "referenceAllele": "C", "start": 5970 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.5043C>G" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Tyr1681Ter", "hgvsWellDefined": "XP_011521357.1:p.Tyr1681_Ala2629delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "G", "end": 5708, "referenceAllele": "C", "start": 5707 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.5016C>G" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Tyr1672Ter", "hgvsWellDefined": "XP_011521358.1:p.Tyr1672_Ala2620delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "G", "end": 5589, "referenceAllele": "C", "start": 5588 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_011521359.1:p.Tyr1715_Pro2613delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "G", "end": 6153, "referenceAllele": "C", "start": 6152 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_016878671.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "G", "end": 5775, "referenceAllele": "C", "start": 5774 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_016878672.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "G", "end": 5772, "referenceAllele": "C", "start": 5771 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_016878673.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "G", "end": 5413, "referenceAllele": "C", "start": 5412 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_016878674.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "G", "end": 6149, "referenceAllele": "C", "start": 6148 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_016878675.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "G", "end": 5501, "referenceAllele": "C", "start": 5500 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.5145C>G" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Tyr1715Ter", "hgvsWellDefined": "XP_016878676.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "G", "end": 5683, "referenceAllele": "C", "start": 5682 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.5043C>G" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Tyr1681Ter", "hgvsWellDefined": "XP_024306012.1:p.Tyr1681_Ala2629delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA2499277139", "coordinates": [ { "allele": "G", "end": 5606, "referenceAllele": "C", "start": 5605 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.5145C>G" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Tyr1715Ter", "hgvsWellDefined": "NP_037407.4:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.5145C>G" }, "RefSeq": { "hgvs": "NM_013275.6:c.5145C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Tyr1715Ter" }, "RefSeq": { "hgvs": "NP_037407.4:p.Tyr1715Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826373919", "coordinates": [ { "allele": "G", "end": 5677, "referenceAllele": "C", "start": 5676 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.5145C>G" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Tyr1715Ter", "hgvsWellDefined": "NP_001243111.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826375770", "coordinates": [ { "allele": "G", "end": 5603, "referenceAllele": "C", "start": 5602 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.5145C>G" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Tyr1715Ter", "hgvsWellDefined": "NP_001243112.1:p.Tyr1715_Ala2663delinsGluGluValMetHisThrProArgThrProSerCysSerAlaAspAspTyrAlaAspLeuValPheAspCysAlaAspSerGlnHisSerThrProValProThrAlaProThrSerAlaCysSerProSerPhePheAspArgPheSerValAlaSerSerGlyLeuSerGluAsnAlaSerGlnAlaProAlaArgProLeuSerThrAsnLeuTyrArgSerValSerValAspIleArgArgThrProGluGluGluPheSerValGlyAspLysLeuPheArgGlnGlnSerValProAlaAlaSerSerTyrAspSerProMetProProSerMetGluAspArgAlaProLeuProProValProAlaGluLysPheAlaCysLeuSerProGlyTyrTyrSerProAspTyrGlyLeuProSerProLysValAspAlaLeuHisCysProProAlaAlaValValThrValThrProSerProGluGlyValPheSerSerLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }