{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397153302", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1693421[alleleid]", "alleleId": 1693421, "preferredName": "NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1701027", "RCV": [ "RCV002275893" ], "variationId": 1701027 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89347291G>A?assembly=hg19", "id": "chr16:g.89347291G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89280883G>A?assembly=hg38", "id": "chr16:g.89280883G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2151742685", "rs": 2151742685 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 89280883, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "T", "end": 5879, "referenceAllele": "C", "start": 5878 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*5462C>T" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*5462C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "T", "end": 5948, "referenceAllele": "C", "start": 5947 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.5659C>T" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Gln1887Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "T", "end": 151, "endIntronDirection": "-", "endIntronOffset": 5691, "referenceAllele": "C", "start": 151, "startIntronDirection": "-", "startIntronOffset": 5692 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.152-5692C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826374083", "coordinates": [ { "allele": "T", "end": 6191, "referenceAllele": "C", "start": 6190 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.5659C>T" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Gln1887Ter", "hgvsWellDefined": "NP_001243111.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826375936", "coordinates": [ { "allele": "T", "end": 6117, "referenceAllele": "C", "start": 6116 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.5659C>T" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Gln1887Ter", "hgvsWellDefined": "NP_001243112.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA2580357106", "coordinates": [ { "allele": "T", "end": 6120, "referenceAllele": "C", "start": 6119 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.5659C>T" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Gln1887Ter", "hgvsWellDefined": "NP_037407.4:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "T", "end": 5897, "referenceAllele": "C", "start": 5896 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.5557C>T" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Gln1853Ter", "hgvsWellDefined": "XP_006721244.1:p.Gln1853_Ala2629delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "T", "end": 5935, "referenceAllele": "C", "start": 5934 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.5362C>T" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Gln1788Ter", "hgvsWellDefined": "XP_006721247.1:p.Gln1788_Ala2564delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "T", "end": 6177, "referenceAllele": "C", "start": 6176 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Gln1887Ter", "hgvsWellDefined": "XP_011521353.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "T", "end": 5882, "referenceAllele": "C", "start": 5881 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Gln1887Ter", "hgvsWellDefined": "XP_011521354.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "T", "end": 6315, "referenceAllele": "C", "start": 6314 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Gln1887Ter", "hgvsWellDefined": "XP_011521355.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "T", "end": 6230, "referenceAllele": "C", "start": 6229 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.5557C>T" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Gln1853Ter", "hgvsWellDefined": "XP_011521356.1:p.Gln1853_Ala2629delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "T", "end": 6503, "referenceAllele": "C", "start": 6502 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.5557C>T" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Gln1853Ter", "hgvsWellDefined": "XP_011521357.1:p.Gln1853_Ala2629delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "T", "end": 6252, "referenceAllele": "C", "start": 6251 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.5530C>T" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Gln1844Ter", "hgvsWellDefined": "XP_011521358.1:p.Gln1844_Ala2620delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "T", "end": 6132, "referenceAllele": "C", "start": 6131 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Gln1887Ter", "hgvsWellDefined": "XP_011521359.1:p.Gln1887_Pro2613delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "T", "end": 6181, "referenceAllele": "C", "start": 6180 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Gln1887Ter", "hgvsWellDefined": "XP_011521353.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "T", "end": 6286, "referenceAllele": "C", "start": 6285 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Gln1887Ter", "hgvsWellDefined": "XP_011521355.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "T", "end": 6200, "referenceAllele": "C", "start": 6199 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.5557C>T" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Gln1853Ter", "hgvsWellDefined": "XP_011521356.1:p.Gln1853_Ala2629delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "T", "end": 6485, "referenceAllele": "C", "start": 6484 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.5557C>T" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Gln1853Ter", "hgvsWellDefined": "XP_011521357.1:p.Gln1853_Ala2629delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "T", "end": 6222, "referenceAllele": "C", "start": 6221 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.5530C>T" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Gln1844Ter", "hgvsWellDefined": "XP_011521358.1:p.Gln1844_Ala2620delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "T", "end": 6103, "referenceAllele": "C", "start": 6102 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Gln1887Ter", "hgvsWellDefined": "XP_011521359.1:p.Gln1887_Pro2613delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysGlyAlaAlaProValAlaSerSerThrGlyProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "T", "end": 6667, "referenceAllele": "C", "start": 6666 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Gln1887Ter", "hgvsWellDefined": "XP_016878671.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "T", "end": 6289, "referenceAllele": "C", "start": 6288 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Gln1887Ter", "hgvsWellDefined": "XP_016878672.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "T", "end": 6286, "referenceAllele": "C", "start": 6285 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Gln1887Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "T", "end": 5927, "referenceAllele": "C", "start": 5926 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Gln1887Ter", "hgvsWellDefined": "XP_016878674.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "T", "end": 6663, "referenceAllele": "C", "start": 6662 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Gln1887Ter", "hgvsWellDefined": "XP_016878675.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "T", "end": 6015, "referenceAllele": "C", "start": 6014 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.5659C>T" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Gln1887Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "T", "end": 6197, "referenceAllele": "C", "start": 6196 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.5557C>T" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Gln1853Ter", "hgvsWellDefined": "XP_024306012.1:p.Gln1853_Ala2629delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA2580357106", "coordinates": [ { "allele": "T", "end": 6120, "referenceAllele": "C", "start": 6119 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.5659C>T" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Gln1887Ter", "hgvsWellDefined": "NP_037407.4:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.5659C>T" }, "RefSeq": { "hgvs": "NM_013275.6:c.5659C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Gln1887Ter" }, "RefSeq": { "hgvs": "NP_037407.4:p.Gln1887Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826374083", "coordinates": [ { "allele": "T", "end": 6191, "referenceAllele": "C", "start": 6190 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.5659C>T" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Gln1887Ter", "hgvsWellDefined": "NP_001243111.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826375936", "coordinates": [ { "allele": "T", "end": 6117, "referenceAllele": "C", "start": 6116 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.5659C>T" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Gln1887Ter", "hgvsWellDefined": "NP_001243112.1:p.Gln1887_Ala2663delinsAlaLysProSerProSerProArgAlaGluLeuLeuValProSerLeuGluGlyAlaLeuProProAspLeuAspThrSerGluAspGlnGlnAlaThrAlaAlaIleIleProProGluProSerTyrLeuGluProLeuAspGluGlyProPheSerAlaValIleThrGluGluProValGluTrpAlaHisProSerGluGlnAlaLeuAlaSerSerLeuIleGlyGlyThrSerGluAsnProValSerTrpProValGlySerAspLeuLeuLeuLysSerProGlnArgPheProGluSerProLysArgPheCysProAlaAspProLeuHisSerAlaAlaProGlyProPheSerAlaSerGluAlaProTyrProAlaProProAlaSerProAlaProTyrAlaLeuProValAlaGluProGlyLeuGluAspValLysAspGlyValAspAlaValProAlaAlaIleSerThrSerGluAlaAlaProTyrAlaProProSerGlyLeuGluSerPhePheSerAsnCysLysSerLeuProGluAlaProLeuAspValAlaProGluProAlaCysValAlaAlaValAlaGlnValGluAlaLeuGlyProLeuGluAsnSerPheLeuAspGlySerArgGlyLeuSerHisLeuGlyGlnValGluProValProTrpAlaAspAlaPheAlaGlyProGluAspAspLeuAspLeuGlyProPheSerLeuProGluLeuProLeuGlnThrLysAspAlaAlaAspGlyGluAlaGluProValGluGluSerLeuAlaProProGluGluMetProProGlyAlaProGlyValIleAsnGlyGlyAspValSerThrValValAlaGluGluProProAlaLeuProProAspGlnAlaSerThrArgLeuProAlaGluLeuGluProGluProSerGlyGluProLysLeuAspValAlaLeuGluAlaAlaValGluAlaGluThrValProGluGluArgAlaArgGlyAspProAspSerSerValGluProAlaProValProProGluGlnArgProLeuGlySerGlyAspGlnGlyAlaGluAlaGluGlyProProAlaAlaSerLeuCysAlaProAspGlyProAlaProAsnThrValAlaGlnAlaGlnAlaAlaAspGlyAlaGlyProGluAspAspThrGluAlaSerArgAlaAlaAlaProAlaGluGlyProProGlyGlyIleGlnProGluAlaAlaGluProLysProThrAlaGluAlaProLysAlaProArgValGluGluIleProGlnArgMetThrArgAsnArgAlaGlnMetLeuAlaAsnGlnSerLysGlnGlyProProProSerGluLysGluCysAlaProThrProAlaProValThrArgAlaLysAlaArgGlySerGluAspAspAspAlaGlnAlaGlnHisProArgLysArgArgPheGlnArgSerThrGlnGlnLeuGlnGlnGlnLeuAsnThrSerThrGlnGlnThrArgGluValIleGlnGlnThrLeuAlaAlaIleValAspAlaIleLysLeuAspAlaIleGluProTyrHisSerAspArgAlaAsnProTyrPheGluTyrLeuGlnIleArgLysLysIleGluGluLysArgLysIleLeuCysCysIleThrProGlnAlaProGlnCysTyrAlaGluTyrValThrTyrThrGlySerTyrLeuLeuAspGlyLysProLeuSerLysLeuHisIleProValIleAlaProProProSerLeuAlaGluProLeuLysGluLeuPheArgGlnGlnGluAlaValArgGlyLysLeuArgLeuGlnHisSerIleGluArgGluLysLeuIleValSerCysGluGlnGluIleLeuArgValHisCysArgAlaAlaArgThrIleAlaAsnGlnAlaValProPheSerAlaCysThrMetLeuLeuAspSerGluValTyrAsnMetProLeuGluSerGlnGlyAspGluAsnLysSerValArgAspArgPheAsnAlaArgGlnPheIleSerTrpLeuGlnAspValAspAspLysTyrAspArgMetLysThrCysLeuLeuMetArgGlnGlnHisGluAlaAlaAlaLeuAsnAlaValGlnArgMetGluTrpGlnLeuLysValGlnGluLeuAspProAlaGlyHisLysSerLeuCysValAsnGluValProSerPheTyrValProMetValAspValAsnAspAspPheValLeuLeuProAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }