{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA012440", "communityStandardTitle": [ "NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1059635", "active": true, "id": "COSM1059635" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182452[alleleid]", "alleleId": 182452, "preferredName": "NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187612", "RCV": [ "RCV000167356", "RCV000237046", "RCV003335171", "RCV004017447", "RCV002515179" ], "variationId": 187612 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112178000-C-T", "id": "5-112178000-C-T", "variant": "5:112178000 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112178000C>T?assembly=hg19", "id": "chr5:g.112178000C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112842303C>T?assembly=hg38", "id": "chr5:g.112842303C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/768922431", "rs": 768922431 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112178000-C-T?dataset=gnomad_r2_1", "id": "5-112178000-C-T", "variant": "5:112178000 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112842303-C-T?dataset=gnomad_r4", "id": "5-112842303-C-T", "variant": "5:112842303 C / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112842303, "referenceAllele": "C", "start": 112842302 } ], "hgvs": [ "NC_000005.10:g.112842303C>T", "CM000667.2:g.112842303C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112178000, "referenceAllele": "C", "start": 112177999 } ], "hgvs": [ "NC_000005.9:g.112178000C>T", "CM000667.1:g.112178000C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112205899, "referenceAllele": "C", "start": 112205898 } ], "hgvs": [ "NC_000005.8:g.112205899C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 154783, "referenceAllele": "C", "start": 154782 } ], "hgvs": [ "NG_008481.4:g.154783C>T", "LRG_130:g.154783C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6819, "referenceAllele": "C", "start": 6818 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.6763C>T" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Arg2255Ter", "hgvsWellDefined": "ENSP00000473355.2:p.Arg2255_Val2861delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "T", "end": 7089, "referenceAllele": "C", "start": 7088 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*6715C>T" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*6715C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "T", "end": 6851, "referenceAllele": "C", "start": 6850 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.6655C>T" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Arg2219Ter", "hgvsWellDefined": "ENSP00000423224.2:p.Arg2219_Val2825delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "T", "end": 6859, "referenceAllele": "C", "start": 6858 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.6709C>T" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Arg2237Ter", "hgvsWellDefined": "ENSP00000426541.2:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "T", "end": 7060, "referenceAllele": "C", "start": 7059 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.6709C>T" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Arg2237Ter", "hgvsWellDefined": "ENSP00000423828.3:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "T", "end": 6768, "referenceAllele": "C", "start": 6767 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.6709C>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg2237Ter", "hgvsWellDefined": "ENSP00000257430.4:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.6709C>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.6709C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg2237Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg2237Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 6765, "referenceAllele": "C", "start": 6764 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.6709C>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg2237Ter", "hgvsWellDefined": "ENSP00000257430.4:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "T", "end": 6866, "referenceAllele": "C", "start": 6865 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.6709C>T" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Arg2237Ter", "hgvsWellDefined": "ENSP00000427089.2:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "T", "end": 6954, "referenceAllele": "C", "start": 6953 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*6031C>T" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*6031C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "T", "end": 230, "endIntronDirection": "+", "endIntronOffset": 13331, "referenceAllele": "C", "start": 230, "startIntronDirection": "+", "startIntronOffset": 13330 } ], "hgvs": [ "ENST00000520401.1:c.230+13331C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA198092", "coordinates": [ { "allele": "T", "end": 6794, "referenceAllele": "C", "start": 6793 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.6709C>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg2237Ter", "hgvsWellDefined": "NP_000029.2:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA198093", "coordinates": [ { "allele": "T", "end": 6902, "referenceAllele": "C", "start": 6901 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.6709C>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg2237Ter", "hgvsWellDefined": "NP_001120982.1:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA198091", "coordinates": [ { "allele": "T", "end": 6868, "referenceAllele": "C", "start": 6867 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.6655C>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg2219Ter", "hgvsWellDefined": "NP_001120983.2:p.Arg2219_Val2825delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827946643", "coordinates": [ { "allele": "T", "end": 7105, "referenceAllele": "C", "start": 7104 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.6709C>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg2237Ter", "hgvsWellDefined": "NP_001341824.1:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916041137", "coordinates": [ { "allele": "T", "end": 6848, "referenceAllele": "C", "start": 6847 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.6763C>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg2255Ter", "hgvsWellDefined": "NP_001341825.1:p.Arg2255_Val2861delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827961330", "coordinates": [ { "allele": "T", "end": 6952, "referenceAllele": "C", "start": 6951 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.6739C>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg2247Ter", "hgvsWellDefined": "NP_001341826.1:p.Arg2247_Val2853delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827970468", "coordinates": [ { "allele": "T", "end": 6749, "referenceAllele": "C", "start": 6748 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.6634C>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg2212Ter", "hgvsWellDefined": "NP_001341827.1:p.Arg2212_Val2818delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827979642", "coordinates": [ { "allele": "T", "end": 6710, "referenceAllele": "C", "start": 6709 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.6625C>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg2209Ter", "hgvsWellDefined": "NP_001341828.1:p.Arg2209_Val2815delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827988721", "coordinates": [ { "allele": "T", "end": 6695, "referenceAllele": "C", "start": 6694 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.6586C>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg2196Ter", "hgvsWellDefined": "NP_001341829.1:p.Arg2196_Val2802delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827997786", "coordinates": [ { "allele": "T", "end": 6641, "referenceAllele": "C", "start": 6640 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.6532C>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg2178Ter", "hgvsWellDefined": "NP_001341830.1:p.Arg2178_Val2784delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828003734", "coordinates": [ { "allele": "T", "end": 6649, "referenceAllele": "C", "start": 6648 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.6436C>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg2146Ter", "hgvsWellDefined": "NP_001341831.1:p.Arg2146_Val2752delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828026871", "coordinates": [ { "allele": "T", "end": 6491, "referenceAllele": "C", "start": 6490 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.6406C>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg2136Ter", "hgvsWellDefined": "NP_001341832.1:p.Arg2136_Val2742delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828046151", "coordinates": [ { "allele": "T", "end": 6446, "referenceAllele": "C", "start": 6445 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.6331C>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg2111Ter", "hgvsWellDefined": "NP_001341833.1:p.Arg2111_Val2717delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828010576", "coordinates": [ { "allele": "T", "end": 6338, "referenceAllele": "C", "start": 6337 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.6229C>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg2077Ter", "hgvsWellDefined": "NP_001341834.1:p.Arg2077_Val2683delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828026669", "coordinates": [ { "allele": "T", "end": 6980, "referenceAllele": "C", "start": 6979 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.5860C>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg1954Ter", "hgvsWellDefined": "NP_001341835.1:p.Arg1954_Val2560delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA198092", "coordinates": [ { "allele": "T", "end": 6768, "referenceAllele": "C", "start": 6767 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.6709C>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg2237Ter", "hgvsWellDefined": "NP_000029.2:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.6709C>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.6709C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg2237Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg2237Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA198093", "coordinates": [ { "allele": "T", "end": 6876, "referenceAllele": "C", "start": 6875 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.6709C>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg2237Ter", "hgvsWellDefined": "NP_001120982.1:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA198091", "coordinates": [ { "allele": "T", "end": 6875, "referenceAllele": "C", "start": 6874 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.6655C>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg2219Ter", "hgvsWellDefined": "NP_001120983.2:p.Arg2219_Val2825delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827946643", "coordinates": [ { "allele": "T", "end": 7112, "referenceAllele": "C", "start": 7111 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.6709C>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg2237Ter", "hgvsWellDefined": "NP_001341824.1:p.Arg2237_Val2843delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916041137", "coordinates": [ { "allele": "T", "end": 6822, "referenceAllele": "C", "start": 6821 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.6763C>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg2255Ter", "hgvsWellDefined": "NP_001341825.1:p.Arg2255_Val2861delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827961330", "coordinates": [ { "allele": "T", "end": 6959, "referenceAllele": "C", "start": 6958 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.6739C>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg2247Ter", "hgvsWellDefined": "NP_001341826.1:p.Arg2247_Val2853delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827970468", "coordinates": [ { "allele": "T", "end": 6723, "referenceAllele": "C", "start": 6722 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.6634C>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg2212Ter", "hgvsWellDefined": "NP_001341827.1:p.Arg2212_Val2818delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827979642", "coordinates": [ { "allele": "T", "end": 6684, "referenceAllele": "C", "start": 6683 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.6625C>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg2209Ter", "hgvsWellDefined": "NP_001341828.1:p.Arg2209_Val2815delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827988721", "coordinates": [ { "allele": "T", "end": 6669, "referenceAllele": "C", "start": 6668 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.6586C>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg2196Ter", "hgvsWellDefined": "NP_001341829.1:p.Arg2196_Val2802delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827997786", "coordinates": [ { "allele": "T", "end": 6615, "referenceAllele": "C", "start": 6614 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.6532C>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg2178Ter", "hgvsWellDefined": "NP_001341830.1:p.Arg2178_Val2784delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828003734", "coordinates": [ { "allele": "T", "end": 6656, "referenceAllele": "C", "start": 6655 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.6436C>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg2146Ter", "hgvsWellDefined": "NP_001341831.1:p.Arg2146_Val2752delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828026871", "coordinates": [ { "allele": "T", "end": 6465, "referenceAllele": "C", "start": 6464 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.6406C>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg2136Ter", "hgvsWellDefined": "NP_001341832.1:p.Arg2136_Val2742delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828046151", "coordinates": [ { "allele": "T", "end": 6420, "referenceAllele": "C", "start": 6419 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.6331C>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg2111Ter", "hgvsWellDefined": "NP_001341833.1:p.Arg2111_Val2717delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828010576", "coordinates": [ { "allele": "T", "end": 6312, "referenceAllele": "C", "start": 6311 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.6229C>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg2077Ter", "hgvsWellDefined": "NP_001341834.1:p.Arg2077_Val2683delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828026669", "coordinates": [ { "allele": "T", "end": 6954, "referenceAllele": "C", "start": 6953 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.5860C>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg1954Ter", "hgvsWellDefined": "NP_001341835.1:p.Arg1954_Val2560delinsAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }