{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397153333", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2922988", "active": true, "id": "COSM2922988" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1021562[alleleid]", "alleleId": 1021562, "preferredName": "NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1031770", "RCV": [ "RCV001333690", "RCV002307729" ], "variationId": 1031770 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89347299G>C?assembly=hg19", "id": "chr16:g.89347299G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89280891G>C?assembly=hg38", "id": "chr16:g.89280891G>C" } ], "dbSNP": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "G", "end": 744, "endIntronDirection": "-", "endIntronOffset": 5699, "referenceAllele": "C", "start": 744, "startIntronDirection": "-", "startIntronOffset": 5700 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.745-5700C>G" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.745-5700C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "G", "end": 6112, "referenceAllele": "C", "start": 6111 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.5651C>G" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Ser1884Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "G", "end": 5871, "referenceAllele": "C", "start": 5870 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*5454C>G" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*5454C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "G", "end": 5940, "referenceAllele": "C", "start": 5939 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.5651C>G" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Ser1884Ter", "hgvsWellDefined": "ENSP00000367581.2:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "G", "end": 151, "endIntronDirection": "-", "endIntronOffset": 5699, "referenceAllele": "C", "start": 151, "startIntronDirection": "-", "startIntronOffset": 5700 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.152-5700C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826374080", "coordinates": [ { "allele": "G", "end": 6183, "referenceAllele": "C", "start": 6182 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.5651C>G" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Ser1884Ter", "hgvsWellDefined": "NP_001243111.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826375933", "coordinates": [ { "allele": "G", "end": 6109, "referenceAllele": "C", "start": 6108 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.5651C>G" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Ser1884Ter", "hgvsWellDefined": "NP_001243112.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA2499277143", "coordinates": [ { "allele": "G", "end": 6112, "referenceAllele": "C", "start": 6111 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.5651C>G" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Ser1884Ter", "hgvsWellDefined": "NP_037407.4:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "G", "end": 5889, "referenceAllele": "C", "start": 5888 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.5549C>G" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Ser1850Ter", "hgvsWellDefined": "XP_006721244.1:p.Ser1851_Ala2629delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "G", "end": 5927, "referenceAllele": "C", "start": 5926 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.5354C>G" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Ser1785Ter", "hgvsWellDefined": "XP_006721247.1:p.Ser1786_Ala2564delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "G", "end": 6169, "referenceAllele": "C", "start": 6168 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Ser1884Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "G", "end": 5874, "referenceAllele": "C", "start": 5873 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Ser1884Ter", "hgvsWellDefined": "XP_011521354.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "G", "end": 6307, "referenceAllele": "C", "start": 6306 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Ser1884Ter", "hgvsWellDefined": "XP_011521355.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "G", "end": 6222, "referenceAllele": "C", "start": 6221 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.5549C>G" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Ser1850Ter", "hgvsWellDefined": "XP_011521356.1:p.Ser1851_Ala2629delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "G", "end": 6495, "referenceAllele": "C", "start": 6494 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.5549C>G" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Ser1850Ter", "hgvsWellDefined": "XP_011521357.1:p.Ser1851_Ala2629delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "G", "end": 6244, "referenceAllele": "C", "start": 6243 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.5522C>G" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Ser1841Ter", "hgvsWellDefined": "XP_011521358.1:p.Ser1842_Ala2620delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "G", "end": 6124, "referenceAllele": "C", "start": 6123 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Ser1884Ter", "hgvsWellDefined": "XP_011521359.1:p.Ser1885_Pro2613delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "G", "end": 6173, "referenceAllele": "C", "start": 6172 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Ser1884Ter", "hgvsWellDefined": "XP_011521353.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "G", "end": 6278, "referenceAllele": "C", "start": 6277 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Ser1884Ter", "hgvsWellDefined": "XP_011521355.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "G", "end": 6192, "referenceAllele": "C", "start": 6191 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.5549C>G" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Ser1850Ter", "hgvsWellDefined": "XP_011521356.1:p.Ser1851_Ala2629delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "G", "end": 6477, "referenceAllele": "C", "start": 6476 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.5549C>G" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Ser1850Ter", "hgvsWellDefined": "XP_011521357.1:p.Ser1851_Ala2629delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "G", "end": 6214, "referenceAllele": "C", "start": 6213 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.5522C>G" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Ser1841Ter", "hgvsWellDefined": "XP_011521358.1:p.Ser1842_Ala2620delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "G", "end": 6095, "referenceAllele": "C", "start": 6094 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Ser1884Ter", "hgvsWellDefined": "XP_011521359.1:p.Ser1885_Pro2613delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "G", "end": 6659, "referenceAllele": "C", "start": 6658 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Ser1884Ter", "hgvsWellDefined": "XP_016878671.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "G", "end": 6281, "referenceAllele": "C", "start": 6280 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Ser1884Ter", "hgvsWellDefined": "XP_016878672.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "G", "end": 6278, "referenceAllele": "C", "start": 6277 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Ser1884Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "G", "end": 5919, "referenceAllele": "C", "start": 5918 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Ser1884Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "G", "end": 6655, "referenceAllele": "C", "start": 6654 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Ser1884Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "G", "end": 6007, "referenceAllele": "C", "start": 6006 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.5651C>G" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Ser1884Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "G", "end": 6189, "referenceAllele": "C", "start": 6188 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.5549C>G" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Ser1850Ter", "hgvsWellDefined": "XP_024306012.1:p.Ser1851_Ala2629delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA2499277143", "coordinates": [ { "allele": "G", "end": 6112, "referenceAllele": "C", "start": 6111 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.5651C>G" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Ser1884Ter", "hgvsWellDefined": "NP_037407.4:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.5651C>G" }, "RefSeq": { "hgvs": "NM_013275.6:c.5651C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Ser1884Ter" }, "RefSeq": { "hgvs": "NP_037407.4:p.Ser1884Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826374080", "coordinates": [ { "allele": "G", "end": 6183, "referenceAllele": "C", "start": 6182 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.5651C>G" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Ser1884Ter", "hgvsWellDefined": "NP_001243111.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826375933", "coordinates": [ { "allele": "G", "end": 6109, "referenceAllele": "C", "start": 6108 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.5651C>G" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Ser1884Ter", "hgvsWellDefined": "NP_001243112.1:p.Ser1885_Ala2663delinsLeuGlnAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }