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}, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.7511G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.7511G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Trp2504Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Trp2504Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 7567, "referenceAllele": "G", "start": 7566 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.7511G>A" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Trp2504Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "A", "end": 7668, "referenceAllele": "G", "start": 7667 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.7511G>A" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Trp2504Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "A", "end": 230, "endIntronDirection": "-", "endIntronOffset": 13543, "referenceAllele": "G", "start": 230, "startIntronDirection": "-", "startIntronOffset": 13544 } ], "hgvs": [ "ENST00000520401.1:c.231-13544G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA354456", "coordinates": [ { "allele": "A", "end": 7596, "referenceAllele": "G", "start": 7595 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.7511G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Trp2504Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA248499", "coordinates": [ { "allele": "A", "end": 7704, "referenceAllele": "G", "start": 7703 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.7511G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Trp2504Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA248498", "coordinates": [ { "allele": "A", "end": 7670, "referenceAllele": "G", "start": 7669 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.7457G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Trp2486Ter", "hgvsWellDefined": "NP_001120983.2:p.Trp2486_Val2825delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827947546", "coordinates": [ { "allele": "A", "end": 7907, "referenceAllele": "G", "start": 7906 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.7511G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Trp2504Ter", "hgvsWellDefined": "NP_001341824.1:p.Trp2504_Val2843delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916041476", "coordinates": [ { "allele": "A", "end": 7650, "referenceAllele": "G", "start": 7649 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.7565G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Trp2522Ter", "hgvsWellDefined": "NP_001341825.1:p.Trp2522_Val2861delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827962234", "coordinates": [ { "allele": "A", "end": 7754, "referenceAllele": "G", "start": 7753 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.7541G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Trp2514Ter", "hgvsWellDefined": "NP_001341826.1:p.Trp2514_Val2853delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827971372", "coordinates": [ { "allele": "A", "end": 7551, "referenceAllele": "G", "start": 7550 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.7436G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Trp2479Ter", "hgvsWellDefined": "NP_001341827.1:p.Trp2479_Val2818delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827980545", "coordinates": [ { "allele": "A", "end": 7512, "referenceAllele": "G", "start": 7511 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.7427G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Trp2476Ter", "hgvsWellDefined": "NP_001341828.1:p.Trp2476_Val2815delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827989623", "coordinates": [ { "allele": "A", "end": 7497, "referenceAllele": "G", "start": 7496 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.7388G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Trp2463Ter", "hgvsWellDefined": "NP_001341829.1:p.Trp2463_Val2802delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827998687", "coordinates": [ { "allele": "A", "end": 7443, "referenceAllele": "G", "start": 7442 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.7334G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Trp2445Ter", "hgvsWellDefined": "NP_001341830.1:p.Trp2445_Val2784delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828012135", "coordinates": [ { "allele": "A", "end": 7451, "referenceAllele": "G", "start": 7450 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.7238G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Trp2413Ter", "hgvsWellDefined": "NP_001341831.1:p.Trp2413_Val2752delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828028655", "coordinates": [ { "allele": "A", "end": 7293, "referenceAllele": "G", "start": 7292 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.7208G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Trp2403Ter", "hgvsWellDefined": "NP_001341832.1:p.Trp2403_Val2742delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828047904", "coordinates": [ { "allele": "A", "end": 7248, "referenceAllele": "G", "start": 7247 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.7133G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Trp2378Ter", "hgvsWellDefined": "NP_001341833.1:p.Trp2378_Val2717delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828012395", "coordinates": [ { "allele": "A", "end": 7140, "referenceAllele": "G", "start": 7139 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.7031G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Trp2344Ter", "hgvsWellDefined": "NP_001341834.1:p.Trp2344_Val2683delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828028517", "coordinates": [ { "allele": "A", "end": 7782, "referenceAllele": "G", "start": 7781 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.6662G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Trp2221Ter", "hgvsWellDefined": "NP_001341835.1:p.Trp2221_Val2560delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA354456", "coordinates": [ { "allele": "A", "end": 7570, "referenceAllele": "G", "start": 7569 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.7511G>A" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Trp2504Ter", "hgvsWellDefined": "NP_000029.2:p.Trp2504_Val2843delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.7511G>A" }, "RefSeq": { "hgvs": "NM_000038.6:c.7511G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Trp2504Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Trp2504Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA248499", "coordinates": [ { "allele": "A", "end": 7678, "referenceAllele": "G", "start": 7677 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.7511G>A" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Trp2504Ter", "hgvsWellDefined": "NP_001120982.1:p.Trp2504_Val2843delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA248498", "coordinates": [ { "allele": "A", "end": 7677, "referenceAllele": "G", "start": 7676 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.7457G>A" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Trp2486Ter", "hgvsWellDefined": "NP_001120983.2:p.Trp2486_Val2825delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827947546", "coordinates": [ { "allele": "A", "end": 7914, "referenceAllele": "G", "start": 7913 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.7511G>A" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Trp2504Ter", "hgvsWellDefined": "NP_001341824.1:p.Trp2504_Val2843delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916041476", "coordinates": [ { "allele": "A", "end": 7624, "referenceAllele": "G", "start": 7623 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.7565G>A" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Trp2522Ter", "hgvsWellDefined": "NP_001341825.1:p.Trp2522_Val2861delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827962234", "coordinates": [ { "allele": "A", "end": 7761, "referenceAllele": "G", "start": 7760 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.7541G>A" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Trp2514Ter", "hgvsWellDefined": "NP_001341826.1:p.Trp2514_Val2853delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827971372", "coordinates": [ { "allele": "A", "end": 7525, "referenceAllele": "G", "start": 7524 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.7436G>A" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Trp2479Ter", "hgvsWellDefined": "NP_001341827.1:p.Trp2479_Val2818delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827980545", "coordinates": [ { "allele": "A", "end": 7486, "referenceAllele": "G", "start": 7485 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.7427G>A" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Trp2476Ter", "hgvsWellDefined": "NP_001341828.1:p.Trp2476_Val2815delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827989623", "coordinates": [ { "allele": "A", "end": 7471, "referenceAllele": "G", "start": 7470 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.7388G>A" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Trp2463Ter", "hgvsWellDefined": "NP_001341829.1:p.Trp2463_Val2802delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827998687", "coordinates": [ { "allele": "A", "end": 7417, "referenceAllele": "G", "start": 7416 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.7334G>A" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Trp2445Ter", "hgvsWellDefined": "NP_001341830.1:p.Trp2445_Val2784delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828012135", "coordinates": [ { "allele": "A", "end": 7458, "referenceAllele": "G", "start": 7457 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.7238G>A" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Trp2413Ter", "hgvsWellDefined": "NP_001341831.1:p.Trp2413_Val2752delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828028655", "coordinates": [ { "allele": "A", "end": 7267, "referenceAllele": "G", "start": 7266 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.7208G>A" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Trp2403Ter", "hgvsWellDefined": "NP_001341832.1:p.Trp2403_Val2742delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828047904", "coordinates": [ { "allele": "A", "end": 7222, "referenceAllele": "G", "start": 7221 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.7133G>A" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Trp2378Ter", "hgvsWellDefined": "NP_001341833.1:p.Trp2378_Val2717delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828012395", "coordinates": [ { "allele": "A", "end": 7114, "referenceAllele": "G", "start": 7113 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.7031G>A" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Trp2344Ter", "hgvsWellDefined": "NP_001341834.1:p.Trp2344_Val2683delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828028517", "coordinates": [ { "allele": "A", "end": 7756, "referenceAllele": "G", "start": 7755 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.6662G>A" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Trp2221Ter", "hgvsWellDefined": "NP_001341835.1:p.Trp2221_Val2560delinsArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }