{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10578415", "communityStandardTitle": [ "NM_000038.6(APC):c.5944A>T (p.Lys1982Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233160[alleleid]", "alleleId": 233160, "preferredName": "NM_000038.6(APC):c.5944A>T (p.Lys1982Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/233824", "RCV": [ "RCV000217699", "RCV002229329", "RCV003765441" ], "variationId": 233824 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112177235A>T?assembly=hg19", "id": "chr5:g.112177235A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112841538A>T?assembly=hg38", "id": "chr5:g.112841538A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876660665", "rs": 876660665 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112841538, "referenceAllele": "A", "start": 112841537 } ], "hgvs": [ "NC_000005.10:g.112841538A>T", "CM000667.2:g.112841538A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112177235, "referenceAllele": "A", "start": 112177234 } ], "hgvs": [ "NC_000005.9:g.112177235A>T", "CM000667.1:g.112177235A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112205134, "referenceAllele": "A", "start": 112205133 } ], "hgvs": [ "NC_000005.8:g.112205134A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 154018, "referenceAllele": "A", "start": 154017 } ], "hgvs": [ "NG_008481.4:g.154018A>T", "LRG_130:g.154018A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6054, "referenceAllele": "A", "start": 6053 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.5998A>T" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Lys2000Ter", "hgvsWellDefined": "ENSP00000473355.2:p.Lys2000_Val2861delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "T", "end": 6324, "referenceAllele": "A", "start": 6323 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*5950A>T" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*5950A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "T", "end": 6086, "referenceAllele": "A", "start": 6085 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.5890A>T" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Lys1964Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "T", "end": 6094, "referenceAllele": "A", "start": 6093 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.5944A>T" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Lys1982Ter", "hgvsWellDefined": "ENSP00000426541.2:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "T", "end": 6295, "referenceAllele": "A", "start": 6294 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.5944A>T" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Lys1982Ter", "hgvsWellDefined": "ENSP00000423828.3:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "T", "end": 6003, "referenceAllele": "A", "start": 6002 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.5944A>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Lys1982Ter", "hgvsWellDefined": "ENSP00000257430.4:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.5944A>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.5944A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Lys1982Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Lys1982Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 6000, "referenceAllele": "A", "start": 5999 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.5944A>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Lys1982Ter", "hgvsWellDefined": "ENSP00000257430.4:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "T", "end": 6101, "referenceAllele": "A", "start": 6100 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.5944A>T" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Lys1982Ter", "hgvsWellDefined": "ENSP00000427089.2:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "T", "end": 6189, "referenceAllele": "A", "start": 6188 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*5266A>T" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*5266A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "T", "end": 230, "endIntronDirection": "+", "endIntronOffset": 12566, "referenceAllele": "A", "start": 230, "startIntronDirection": "+", "startIntronOffset": 12565 } ], "hgvs": [ "ENST00000520401.1:c.230+12566A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA16040053", "coordinates": [ { "allele": "T", "end": 6029, "referenceAllele": "A", "start": 6028 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.5944A>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Lys1982Ter", "hgvsWellDefined": "NP_000029.2:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA645400829", "coordinates": [ { "allele": "T", "end": 6137, "referenceAllele": "A", "start": 6136 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.5944A>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Lys1982Ter", "hgvsWellDefined": "NP_001120982.1:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA2825642736", "coordinates": [ { "allele": "T", "end": 6103, "referenceAllele": "A", "start": 6102 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.5890A>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Lys1964Ter", "hgvsWellDefined": "NP_001120983.2:p.Lys1964_Val2825delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827945827", "coordinates": [ { "allele": "T", "end": 6340, "referenceAllele": "A", "start": 6339 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.5944A>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Lys1982Ter", "hgvsWellDefined": "NP_001341824.1:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916040862", "coordinates": [ { "allele": "T", "end": 6083, "referenceAllele": "A", "start": 6082 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.5998A>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Lys2000Ter", "hgvsWellDefined": "NP_001341825.1:p.Lys2000_Val2861delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827960515", "coordinates": [ { "allele": "T", "end": 6187, "referenceAllele": "A", "start": 6186 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.5974A>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Lys1992Ter", "hgvsWellDefined": "NP_001341826.1:p.Lys1992_Val2853delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827969653", "coordinates": [ { "allele": "T", "end": 5984, "referenceAllele": "A", "start": 5983 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.5869A>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Lys1957Ter", "hgvsWellDefined": "NP_001341827.1:p.Lys1957_Val2818delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827978827", "coordinates": [ { "allele": "T", "end": 5945, "referenceAllele": "A", "start": 5944 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.5860A>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Lys1954Ter", "hgvsWellDefined": "NP_001341828.1:p.Lys1954_Val2815delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827987904", "coordinates": [ { "allele": "T", "end": 5930, "referenceAllele": "A", "start": 5929 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.5821A>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Lys1941Ter", "hgvsWellDefined": "NP_001341829.1:p.Lys1941_Val2802delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827996969", "coordinates": [ { "allele": "T", "end": 5876, "referenceAllele": "A", "start": 5875 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.5767A>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Lys1923Ter", "hgvsWellDefined": "NP_001341830.1:p.Lys1923_Val2784delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828010265", "coordinates": [ { "allele": "T", "end": 5884, "referenceAllele": "A", "start": 5883 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.5671A>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Lys1891Ter", "hgvsWellDefined": "NP_001341831.1:p.Lys1891_Val2752delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828025335", "coordinates": [ { "allele": "T", "end": 5726, "referenceAllele": "A", "start": 5725 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.5641A>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Lys1881Ter", "hgvsWellDefined": "NP_001341832.1:p.Lys1881_Val2742delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828044518", "coordinates": [ { "allele": "T", "end": 5681, "referenceAllele": "A", "start": 5680 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.5566A>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Lys1856Ter", "hgvsWellDefined": "NP_001341833.1:p.Lys1856_Val2717delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828009085", "coordinates": [ { "allele": "T", "end": 5573, "referenceAllele": "A", "start": 5572 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.5464A>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Lys1822Ter", "hgvsWellDefined": "NP_001341834.1:p.Lys1822_Val2683delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828024996", "coordinates": [ { "allele": "T", "end": 6215, "referenceAllele": "A", "start": 6214 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.5095A>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Lys1699Ter", "hgvsWellDefined": "NP_001341835.1:p.Lys1699_Val2560delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA16040053", "coordinates": [ { "allele": "T", "end": 6003, "referenceAllele": "A", "start": 6002 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.5944A>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Lys1982Ter", "hgvsWellDefined": "NP_000029.2:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.5944A>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.5944A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Lys1982Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Lys1982Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645400829", "coordinates": [ { "allele": "T", "end": 6111, "referenceAllele": "A", "start": 6110 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.5944A>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Lys1982Ter", "hgvsWellDefined": "NP_001120982.1:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA2825642736", "coordinates": [ { "allele": "T", "end": 6110, "referenceAllele": "A", "start": 6109 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.5890A>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Lys1964Ter", "hgvsWellDefined": "NP_001120983.2:p.Lys1964_Val2825delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827945827", "coordinates": [ { "allele": "T", "end": 6347, "referenceAllele": "A", "start": 6346 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.5944A>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Lys1982Ter", "hgvsWellDefined": "NP_001341824.1:p.Lys1982_Val2843delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916040862", "coordinates": [ { "allele": "T", "end": 6057, "referenceAllele": "A", "start": 6056 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.5998A>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Lys2000Ter", "hgvsWellDefined": "NP_001341825.1:p.Lys2000_Val2861delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827960515", "coordinates": [ { "allele": "T", "end": 6194, "referenceAllele": "A", "start": 6193 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.5974A>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Lys1992Ter", "hgvsWellDefined": "NP_001341826.1:p.Lys1992_Val2853delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827969653", "coordinates": [ { "allele": "T", "end": 5958, "referenceAllele": "A", "start": 5957 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.5869A>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Lys1957Ter", "hgvsWellDefined": "NP_001341827.1:p.Lys1957_Val2818delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827978827", "coordinates": [ { "allele": "T", "end": 5919, "referenceAllele": "A", "start": 5918 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.5860A>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Lys1954Ter", "hgvsWellDefined": "NP_001341828.1:p.Lys1954_Val2815delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827987904", "coordinates": [ { "allele": "T", "end": 5904, "referenceAllele": "A", "start": 5903 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.5821A>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Lys1941Ter", "hgvsWellDefined": "NP_001341829.1:p.Lys1941_Val2802delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827996969", "coordinates": [ { "allele": "T", "end": 5850, "referenceAllele": "A", "start": 5849 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.5767A>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Lys1923Ter", "hgvsWellDefined": "NP_001341830.1:p.Lys1923_Val2784delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828010265", "coordinates": [ { "allele": "T", "end": 5891, "referenceAllele": "A", "start": 5890 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.5671A>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Lys1891Ter", "hgvsWellDefined": "NP_001341831.1:p.Lys1891_Val2752delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828025335", "coordinates": [ { "allele": "T", "end": 5700, "referenceAllele": "A", "start": 5699 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.5641A>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Lys1881Ter", "hgvsWellDefined": "NP_001341832.1:p.Lys1881_Val2742delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828044518", "coordinates": [ { "allele": "T", "end": 5655, "referenceAllele": "A", "start": 5654 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.5566A>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Lys1856Ter", "hgvsWellDefined": "NP_001341833.1:p.Lys1856_Val2717delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828009085", "coordinates": [ { "allele": "T", "end": 5547, "referenceAllele": "A", "start": 5546 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.5464A>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Lys1822Ter", "hgvsWellDefined": "NP_001341834.1:p.Lys1822_Val2683delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828024996", "coordinates": [ { "allele": "T", "end": 6189, "referenceAllele": "A", "start": 6188 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.5095A>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Lys1699Ter", "hgvsWellDefined": "NP_001341835.1:p.Lys1699_Val2560delinsGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSerArgAsnSerSerLeuSerSerLeuSerIleAspSerGluAspAspLeuLeuGlnGluCysIleSerSerAlaMetProLysLysLysLysProSerArgLeuLysGlyAspAsnGluLysHisSerProArgAsnMetGlyGlyIleLeuGlyGluAspLeuThrLeuAspLeuLysAspIleGlnArgProAspSerGluHisGlyLeuSerProAspSerGluAsnPheAspTrpLysAlaIleGlnGluGlyAlaAsnSerIleValSerSerLeuHisGlnAlaAlaAlaAlaAlaCysLeuSerArgGlnAlaSerSerAspSerAspSerIleLeuSerLeuLysSerGlyIleSerLeuGlySerProPheHisLeuThrProAspGlnGluGluLysProPheThrSerAsnLysGlyProArgIleLeuLysProGlyGluLysSerThrLeuGluThrLysLysIleGluSerGluSerLysGlyIleLysGlyGlyLysLysValTyrLysSerLeuIleThrGlyLysValArgSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }