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"NP_001341826.1:p.Ser2582_Val2853delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827971590", "coordinates": [ { "allele": "G", "end": 7755, "referenceAllele": "C", "start": 7754 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.7640C>G" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser2547Ter", "hgvsWellDefined": "NP_001341827.1:p.Ser2547_Val2818delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827980765", "coordinates": [ { "allele": "G", "end": 7716, "referenceAllele": "C", "start": 7715 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.7631C>G" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser2544Ter", "hgvsWellDefined": "NP_001341828.1:p.Ser2544_Val2815delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827989841", "coordinates": [ { "allele": "G", "end": 7701, "referenceAllele": "C", "start": 7700 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.7592C>G" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser2531Ter", "hgvsWellDefined": "NP_001341829.1:p.Ser2531_Val2802delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827998907", "coordinates": 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"NP_001341830.1:p.Ser2513_Val2784delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828012333", "coordinates": [ { "allele": "G", "end": 7655, "referenceAllele": "C", "start": 7654 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.7442C>G" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser2481Ter", "hgvsWellDefined": "NP_001341831.1:p.Ser2481_Val2752delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828029083", "coordinates": [ { "allele": "G", "end": 7497, "referenceAllele": "C", "start": 7496 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.7412C>G" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser2471Ter", "hgvsWellDefined": "NP_001341832.1:p.Ser2471_Val2742delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828048422", "coordinates": [ { "allele": "G", "end": 7452, "referenceAllele": "C", "start": 7451 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.7337C>G" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser2446Ter", "hgvsWellDefined": "NP_001341833.1:p.Ser2446_Val2717delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828012783", "coordinates": [ { "allele": "G", "end": 7344, "referenceAllele": "C", "start": 7343 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.7235C>G" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser2412Ter", "hgvsWellDefined": "NP_001341834.1:p.Ser2412_Val2683delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828028943", "coordinates": [ { "allele": "G", "end": 7986, "referenceAllele": "C", "start": 7985 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.6866C>G" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser2289Ter", "hgvsWellDefined": "NP_001341835.1:p.Ser2289_Val2560delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA16040134", "coordinates": [ { "allele": "G", "end": 7774, "referenceAllele": "C", "start": 7773 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.7715C>G" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ser2572Ter", "hgvsWellDefined": "NP_000029.2:p.Ser2572_Val2843delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.7715C>G" }, "RefSeq": { "hgvs": "NM_000038.6:c.7715C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ser2572Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ser2572Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645402291", "coordinates": [ { "allele": "G", "end": 7882, "referenceAllele": "C", "start": 7881 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.7715C>G" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ser2572Ter", "hgvsWellDefined": "NP_001120982.1:p.Ser2572_Val2843delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA2825644555", "coordinates": 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"NP_001120983.2:p.Ser2554_Val2825delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827947764", "coordinates": 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"NP_001341824.1:p.Ser2572_Val2843delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916041544", "coordinates": 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"NP_001341825.1:p.Ser2590_Val2861delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827962454", "coordinates": 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"NP_001341826.1:p.Ser2582_Val2853delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827971590", "coordinates": [ { "allele": "G", "end": 7729, "referenceAllele": "C", "start": 7728 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.7640C>G" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser2547Ter", "hgvsWellDefined": "NP_001341827.1:p.Ser2547_Val2818delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827980765", "coordinates": [ { "allele": "G", "end": 7690, "referenceAllele": "C", "start": 7689 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.7631C>G" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser2544Ter", "hgvsWellDefined": "NP_001341828.1:p.Ser2544_Val2815delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827989841", "coordinates": [ { "allele": "G", "end": 7675, "referenceAllele": "C", "start": 7674 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.7592C>G" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser2531Ter", "hgvsWellDefined": "NP_001341829.1:p.Ser2531_Val2802delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827998907", "coordinates": [ { "allele": "G", "end": 7621, "referenceAllele": "C", "start": 7620 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.7538C>G" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ser2513Ter", "hgvsWellDefined": "NP_001341830.1:p.Ser2513_Val2784delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828012333", "coordinates": [ { "allele": "G", "end": 7662, "referenceAllele": "C", "start": 7661 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.7442C>G" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser2481Ter", "hgvsWellDefined": "NP_001341831.1:p.Ser2481_Val2752delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828029083", "coordinates": [ { "allele": "G", "end": 7471, "referenceAllele": "C", "start": 7470 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.7412C>G" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser2471Ter", "hgvsWellDefined": "NP_001341832.1:p.Ser2471_Val2742delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828048422", "coordinates": [ { "allele": "G", "end": 7426, "referenceAllele": "C", "start": 7425 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.7337C>G" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser2446Ter", "hgvsWellDefined": "NP_001341833.1:p.Ser2446_Val2717delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828012783", "coordinates": [ { "allele": "G", "end": 7318, "referenceAllele": "C", "start": 7317 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.7235C>G" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser2412Ter", "hgvsWellDefined": "NP_001341834.1:p.Ser2412_Val2683delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828028943", "coordinates": [ { "allele": "G", "end": 7960, "referenceAllele": "C", "start": 7959 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.6866C>G" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser2289Ter", "hgvsWellDefined": "NP_001341835.1:p.Ser2289_Val2560delinsIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }