{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1001243563", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.1321_1328del (p.Val441ArgfsTer?)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3234196[alleleid]", "alleleId": 3234196, "preferredName": "NM_001048174.2(MUTYH):c.1321_1328del (p.Val441fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3073240", "RCV": [ "RCV004015254" ], "variationId": 3073240 } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1644777520", "rs": 1644777520 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45331245-TGGTGGTAC-T?dataset=gnomad_r3", "id": "1-45331245-TGGTGGTAC-T", "variant": "1:45331245 TGGTGGTAC / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45331245-TGGTGGTAC-T?dataset=gnomad_r4", "id": "1-45331245-TGGTGGTAC-T", "variant": "1:45331245 TGGTGGTAC / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "", "end": 45331259, "referenceAllele": "ACGGTGGT", "start": 45331251 } ], "hgvs": [ "NC_000001.11:g.45331252_45331259del", "CM000663.2:g.45331252_45331259del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "", "end": 45796931, "referenceAllele": "ACGGTGGT", "start": 45796923 } ], "hgvs": [ "NC_000001.10:g.45796924_45796931del", "CM000663.1:g.45796924_45796931del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "", "end": 45569518, "referenceAllele": "ACGGTGGT", "start": 45569510 } ], "hgvs": [ "NC_000001.9:g.45569511_45569518del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "", "end": 14225, "referenceAllele": "CCGTACCA", "start": 14217 } ], "hgvs": [ "NG_008189.1:g.14218_14225del", "LRG_220:g.14218_14225del" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 1071, "referenceAllele": "CCGTACCA", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.937_944del" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Val313ArgfsTer?", "hgvsWellDefined": "ENSP00000410263.2:p.[Val313_Gly316delinsArgCysSerLeu;Arg318_Phe325delinsAspAlaGlyGlyIleSer;Thr327_Met334delinsArgSerCysPheHisArgHisGlu;Lys336_Arg339delinsGlyPheProCys;Tyr341_Gln344delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "", "end": 1512, "referenceAllele": "CCGTACCA", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.1354_1361del" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Val452ArgfsTer?", "hgvsWellDefined": "ENSP00000403655.2:p.[Val452_Gly455delinsArgCysSerLeu;Arg457_Phe464delinsAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln483delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "", "end": 1429, "referenceAllele": "CCGTACCA", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.*183_*190del" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:n.*183_*190del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "", "end": 1852, "referenceAllele": "CCGTACCA", "start": 1844 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.1339_1346del" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Val447ArgfsTer?", "hgvsWellDefined": "ENSP00000436469.2:p.[Val447_Gly450delinsArgCysSerLeu;Arg452_Phe459delinsAspAlaGlyGlyIleSer;Thr461_Met468delinsArgSerCysPheHisArgHisGlu;Lys470_Arg473delinsGlyPheProCys;Tyr475_Gln478delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "", "end": 1380, "referenceAllele": "CCGTACCA", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.1321_1328del" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Val441ArgfsTer?", "hgvsWellDefined": "ENSP00000431264.2:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "", "end": 1342, "referenceAllele": "CCGTACCA", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.1174_1181del" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Val392ArgfsTer?", "hgvsWellDefined": "ENSP00000432528.2:p.[Val392_Gly395delinsArgCysSerLeu;Arg397_Phe404delinsAspAlaGlyGlyIleSer;Thr406_Met413delinsArgSerCysPheHisArgHisGlu;Lys415_Arg418delinsGlyPheProCys;Tyr420_Gln423delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "", "end": 957, "referenceAllele": "CCGTACCA", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.*650_*657del" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.*650_*657del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "", "end": 2458, "referenceAllele": "CCGTACCA", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.1321_1328del" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Val441ArgfsTer?", "hgvsWellDefined": "ENSP00000500828.2:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "", "end": 1598, "referenceAllele": "CCGTACCA", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.1405_1412del" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Val469ArgfsTer?", "hgvsWellDefined": "ENSP00000518552.2:p.[Val469_Gly472delinsArgCysSerLeu;Arg474_Phe481delinsAspAlaGlyGlyIleSer;Thr483_Met490delinsArgSerCysPheHisArgHisGlu;Lys492_Arg495delinsGlyPheProCys;Tyr497_Gln500delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1405_1412del" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1405_1412del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Val469ArgfsTer?" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Val469ArgfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 1589, "referenceAllele": "CCGTACCA", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.1396_1403del" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Val466ArgfsTer?", "hgvsWellDefined": "ENSP00000500891.1:p.[Val466_Gly469delinsArgCysSerLeu;Arg471_Phe478delinsAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln497delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "", "end": 1406, "referenceAllele": "CCGTACCA", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.1321_1328del" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Val441ArgfsTer?", "hgvsWellDefined": "ENSP00000407590.2:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1321_1328del" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1321_1328del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Val441ArgfsTer?" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Val441ArgfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 2306, "referenceAllele": "CCGTACCA", "start": 2298 } ], "hgvs": [ "ENST00000671898.1:c.1909_1916del" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Val637ArgfsTer?", "hgvsWellDefined": "ENSP00000499896.1:p.[Val637_Gly640delinsArgCysSerLeu;Arg642_Phe649delinsAspAlaGlyGlyIleSer;Thr651_Met658delinsArgSerCysPheHisArgHisGlu;Lys660_Arg663delinsGlyPheProCys;Tyr665_Gln668delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "", "end": 1935, "referenceAllele": "CCGTACCA", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.*650_*657del" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.*650_*657del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "", "end": 2458, "referenceAllele": "CCGTACCA", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.1321_1328del" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Val441ArgfsTer?", "hgvsWellDefined": "ENSP00000500828.1:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Val465delinsGly]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "", "end": 1537, "referenceAllele": "CCGTACCA", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.1396_1403del" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Val466ArgfsTer?", "hgvsWellDefined": "ENSP00000500891.1:p.[Val466_Gly469delinsArgCysSerLeu;Arg471_Phe478delinsAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln497delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "", "end": 1190, "referenceAllele": "CCGTACCA", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*1018_*1025del" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*1018_*1025del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "", "end": 1442, "referenceAllele": "CCGTACCA", "start": 1434 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.1324_1331del" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Val442ArgfsTer?", "hgvsWellDefined": "ENSP00000346354.6:p.[Val442_Gly445delinsArgCysSerLeu;Arg447_Phe454delinsAspAlaGlyGlyIleSer;Thr456_Met463delinsArgSerCysPheHisArgHisGlu;Lys465_Arg468delinsGlyPheProCys;Tyr470_Gln473delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "", "end": 1474, "referenceAllele": "CCGTACCA", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.1321_1328del" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Val441ArgfsTer?", "hgvsWellDefined": "ENSP00000347685.2:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "", "end": 1537, "referenceAllele": "CCGTACCA", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.1396_1403del" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Val466ArgfsTer?", "hgvsWellDefined": "ENSP00000361170.3:p.[Val466_Gly469delinsArgCysSerLeu;Arg471_Phe478delinsAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln497delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "", "end": 1521, "referenceAllele": "CCGTACCA", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.1321_1328del" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Val441ArgfsTer?", "hgvsWellDefined": "ENSP00000361176.1:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "", "end": 1507, "referenceAllele": "CCGTACCA", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.1366_1373del" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Val456ArgfsTer?", "hgvsWellDefined": "ENSP00000361182.3:p.[Val456_Gly459delinsArgCysSerLeu;Arg461_Phe468delinsAspAlaGlyGlyIleSer;Thr470_Met477delinsArgSerCysPheHisArgHisGlu;Lys479_Arg482delinsGlyPheProCys;Tyr484_Gln487delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "", "end": 1586, "referenceAllele": "CCGTACCA", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.1363_1370del" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Val455ArgfsTer?", "hgvsWellDefined": "ENSP00000361187.3:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "", "end": 1404, "referenceAllele": "CCGTACCA", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.1354_1361del" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Val452ArgfsTer?", "hgvsWellDefined": "ENSP00000409718.1:p.[Val452_Gly455delinsArgCysSerLeu;Arg457_Phe464delinsAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln483delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "", "end": 1628, "referenceAllele": "CCGTACCA", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.1405_1412del" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Val469ArgfsTer?", "hgvsWellDefined": "ENSP00000408176.1:p.[Val469_Gly472delinsArgCysSerLeu;Arg474_Phe481delinsAspAlaGlyGlyIleSer;Thr483_Met490delinsArgSerCysPheHisArgHisGlu;Lys492_Arg495delinsGlyPheProCys;Tyr497_Gln500delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "", "end": 1390, "referenceAllele": "CCGTACCA", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.1321_1328del" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Val441ArgfsTer?", "hgvsWellDefined": "ENSP00000407590.2:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "", "end": 745, "referenceAllele": "CCGTACCA", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.738_745del" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:n.738_745del" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "", "end": 1375, "referenceAllele": "CCGTACCA", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*1134_*1141del" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*1134_*1141del" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "", "end": 1440, "referenceAllele": "CCGTACCA", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*1134_*1141del" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*1134_*1141del" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "", "end": 649, "referenceAllele": "CCGTACCA", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000482094.5:n.642_649del" ], "referenceSequence": "http://reg.genome.network/refseq/RS321874" }, { "coordinates": [ { "allele": "", "end": 25, "referenceAllele": "CCGTACCA", "start": 17 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.5:c.18_25del" ], "referenceSequence": "http://reg.genome.network/refseq/RS324338" }, { "coordinates": [ { "allele": "", "end": 439, "referenceAllele": "CCGTACCA", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.406_413del" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:p.Val136ArgfsTer?", "hgvsWellDefined": "ENSP00000432330.1:p.[Val136_Gly139delinsArgCysSerLeu;Arg141_Phe148delinsAspAlaGlyGlyIleSer;Thr150_Met157delinsArgSerCysPheHisArgHisGlu;Lys159_Arg162delinsGlyPheProCys;Tyr164_Gln167delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "", "end": 1424, "referenceAllele": "CCGTACCA", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.1363_1370del" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Val455ArgfsTer?", "hgvsWellDefined": "ENSP00000433130.2:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "", "end": 403, "referenceAllele": "CCGTACCA", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.5:c.396_403del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247332" }, { "coordinates": [ { "allele": "", "end": 648, "referenceAllele": "CCGTACCA", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.406_413del" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:p.Val136ArgfsTer?", "hgvsWellDefined": "ENSP00000437093.1:p.[Val136_Gly139delinsArgCysSerLeu;Arg141_Phe148delinsAspAlaGlyGlyIleSer;Thr150_Met157delinsArgSerCysPheHisArgHisGlu;Lys159_Arg162delinsGlyPheProCys;Tyr164_Gln167delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "", "end": 309, "endIntronDirection": "-", "endIntronOffset": 1808, "referenceAllele": "CCGTACCA", "start": 309, "startIntronDirection": "-", "startIntronOffset": 1816 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.116-1816_116-1809del" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.116-1816_116-1809del" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "", "end": 957, "referenceAllele": "CCGTACCA", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.950_957del" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.950_957del" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "", "end": 1586, "referenceAllele": "CCGTACCA", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Val455ArgfsTer?", "hgvsWellDefined": "NP_001041636.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "coordinates": [ { "allele": "", "end": 1477, "referenceAllele": "CCGTACCA", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.1324_1331del" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Val442ArgfsTer?", "hgvsWellDefined": "NP_001041637.1:p.[Val442_Gly445delinsArgCysSerLeu;Arg447_Phe454delinsAspAlaGlyGlyIleSer;Thr456_Met463delinsArgSerCysPheHisArgHisGlu;Lys465_Arg468delinsGlyPheProCys;Tyr470_Gln473delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "coordinates": [ { "allele": "", "end": 1474, "referenceAllele": "CCGTACCA", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.1321_1328del" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Val441ArgfsTer?", "hgvsWellDefined": "NP_001041638.1:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "coordinates": [ { "allele": "", "end": 1393, "referenceAllele": "CCGTACCA", "start": 1385 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.1321_1328del" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Val441ArgfsTer?", "hgvsWellDefined": "NP_001041639.1:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "coordinates": [ { "allele": "", "end": 1628, "referenceAllele": "CCGTACCA", "start": 1620 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.1405_1412del", "LRG_220t1:c.1405_1412del" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Val469ArgfsTer?", "hgvsWellDefined": "NP_001121897.1:p.[Val469_Gly472delinsArgCysSerLeu;Arg474_Phe481delinsAspAlaGlyGlyIleSer;Thr483_Met490delinsArgSerCysPheHisArgHisGlu;Lys492_Arg495delinsGlyPheProCys;Tyr497_Gln500delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "coordinates": [ { "allele": "", "end": 1589, "referenceAllele": "CCGTACCA", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.1366_1373del" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Val456ArgfsTer?", "hgvsWellDefined": "NP_001280119.1:p.[Val456_Gly459delinsArgCysSerLeu;Arg461_Phe468delinsAspAlaGlyGlyIleSer;Thr470_Met477delinsArgSerCysPheHisArgHisGlu;Lys479_Arg482delinsGlyPheProCys;Tyr484_Gln487delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "coordinates": [ { "allele": "", "end": 1426, "referenceAllele": "CCGTACCA", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.1354_1361del" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Val452ArgfsTer?", "hgvsWellDefined": "NP_001280120.1:p.[Val452_Gly455delinsArgCysSerLeu;Arg457_Phe464delinsAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln483delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "coordinates": [ { "allele": "", "end": 1522, "referenceAllele": "CCGTACCA", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.1045_1052del" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Val349ArgfsTer?", "hgvsWellDefined": "NP_001280121.1:p.[Val349_Gly352delinsArgCysSerLeu;Arg354_Phe361delinsAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln380delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "coordinates": [ { "allele": "", "end": 1543, "referenceAllele": "CCGTACCA", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.1321_1328del" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Val441ArgfsTer?", "hgvsWellDefined": "NP_001280124.1:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "coordinates": [ { "allele": "", "end": 1411, "referenceAllele": "CCGTACCA", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.1045_1052del" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Val349ArgfsTer?", "hgvsWellDefined": "NP_001280125.1:p.[Val349_Gly352delinsArgCysSerLeu;Arg354_Phe361delinsAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln380delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "coordinates": [ { "allele": "", "end": 1619, "referenceAllele": "CCGTACCA", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.1396_1403del" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Val466ArgfsTer?", "hgvsWellDefined": "NP_036354.1:p.[Val466_Gly469delinsArgCysSerLeu;Arg471_Phe478delinsAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln497delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "", "end": 1691, "referenceAllele": "CCGTACCA", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.1381_1388del" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Val461ArgfsTer?", "hgvsWellDefined": "XP_011539799.1:p.[Val461_Gly464delinsArgCysSerLeu;Arg466_Phe473delinsAspAlaGlyGlyIleSer;Thr475_Met482delinsArgSerCysPheHisArgHisGlu;Lys484_Arg487delinsGlyPheProCys;Tyr489_Gln492delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "", "end": 1463, "referenceAllele": "CCGTACCA", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539800.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "", "end": 1449, "referenceAllele": "CCGTACCA", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539801.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "", "end": 1626, "referenceAllele": "CCGTACCA", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539802.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "", "end": 1574, "referenceAllele": "CCGTACCA", "start": 1566 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539803.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "", "end": 1607, "referenceAllele": "CCGTACCA", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539804.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "", "end": 1417, "referenceAllele": "CCGTACCA", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539805.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "", "end": 1483, "referenceAllele": "CCGTACCA", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.1354_1361del" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Val452ArgfsTer?", "hgvsWellDefined": "XP_011539806.1:p.[Val452_Gly455delinsArgCysSerLeu;Arg457_Phe464delinsAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln483delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "", "end": 1118, "referenceAllele": "CCGTACCA", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.943_950del" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Val315ArgfsTer?", "hgvsWellDefined": "XP_011539807.1:p.[Val315_Gly318delinsArgCysSerLeu;Arg320_Phe327delinsAspAlaGlyGlyIleSer;Thr329_Met336delinsArgSerCysPheHisArgHisGlu;Lys338_Arg341delinsGlyPheProCys;Tyr343_Gln346delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "", "end": 1116, "referenceAllele": "CCGTACCA", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.943_950del" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Val315ArgfsTer?", "hgvsWellDefined": "XP_011539808.1:p.[Val315_Gly318delinsArgCysSerLeu;Arg320_Phe327delinsAspAlaGlyGlyIleSer;Thr329_Met336delinsArgSerCysPheHisArgHisGlu;Lys338_Arg341delinsGlyPheProCys;Tyr343_Gln346delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "", "end": 948, "referenceAllele": "CCGTACCA", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.934_941del" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Val312ArgfsTer?", "hgvsWellDefined": "XP_011539809.1:p.[Val312_Gly315delinsArgCysSerLeu;Arg317_Phe324delinsAspAlaGlyGlyIleSer;Thr326_Met333delinsArgSerCysPheHisArgHisGlu;Lys335_Arg338delinsGlyPheProCys;Tyr340_Gln343delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "", "end": 981, "referenceAllele": "CCGTACCA", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.949_956del" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Val317ArgfsTer?", "hgvsWellDefined": "XP_011539810.1:p.[Val317_Gly320delinsArgCysSerLeu;Arg322_Phe329delinsAspAlaGlyGlyIleSer;Thr331_Met338delinsArgSerCysPheHisArgHisGlu;Lys340_Arg343delinsGlyPheProCys;Tyr345_Gln348delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "", "end": 1459, "referenceAllele": "CCGTACCA", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.1452_1459del" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "coordinates": [ { "allele": "", "end": 1512, "referenceAllele": "CCGTACCA", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.976_983del" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Val326ArgfsTer?", "hgvsWellDefined": "NP_001337579.1:p.[Val326_Gly329delinsArgCysSerLeu;Arg331_Phe338delinsAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln357delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "coordinates": [ { "allele": "", "end": 1448, "referenceAllele": "CCGTACCA", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.976_983del" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Val326ArgfsTer?", "hgvsWellDefined": "NP_001337580.1:p.[Val326_Gly329delinsArgCysSerLeu;Arg331_Phe338delinsAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln357delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "", "end": 1586, "referenceAllele": "CCGTACCA", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1579_1586del" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "", "end": 1400, "referenceAllele": "CCGTACCA", "start": 1392 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.1393_1400del" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "", "end": 1686, "referenceAllele": "CCGTACCA", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.1381_1388del" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Val461ArgfsTer?", "hgvsWellDefined": "XP_011539799.1:p.[Val461_Gly464delinsArgCysSerLeu;Arg466_Phe473delinsAspAlaGlyGlyIleSer;Thr475_Met482delinsArgSerCysPheHisArgHisGlu;Lys484_Arg487delinsGlyPheProCys;Tyr489_Gln492delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "", "end": 1664, "referenceAllele": "CCGTACCA", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539802.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "", "end": 1558, "referenceAllele": "CCGTACCA", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539803.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "", "end": 1463, "referenceAllele": "CCGTACCA", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539804.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "", "end": 1431, "referenceAllele": "CCGTACCA", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_011539805.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "", "end": 1512, "referenceAllele": "CCGTACCA", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.1354_1361del" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Val452ArgfsTer?", "hgvsWellDefined": "XP_011539806.1:p.[Val452_Gly455delinsArgCysSerLeu;Arg457_Phe464delinsAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln483delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "", "end": 1132, "referenceAllele": "CCGTACCA", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.943_950del" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Val315ArgfsTer?", "hgvsWellDefined": "XP_011539807.1:p.[Val315_Gly318delinsArgCysSerLeu;Arg320_Phe327delinsAspAlaGlyGlyIleSer;Thr329_Met336delinsArgSerCysPheHisArgHisGlu;Lys338_Arg341delinsGlyPheProCys;Tyr343_Gln346delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "", "end": 1174, "referenceAllele": "CCGTACCA", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.943_950del" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Val315ArgfsTer?", "hgvsWellDefined": "XP_011539808.1:p.[Val315_Gly318delinsArgCysSerLeu;Arg320_Phe327delinsAspAlaGlyGlyIleSer;Thr329_Met336delinsArgSerCysPheHisArgHisGlu;Lys338_Arg341delinsGlyPheProCys;Tyr343_Gln346delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "", "end": 1462, "referenceAllele": "CCGTACCA", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_016856820.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "", "end": 1464, "referenceAllele": "CCGTACCA", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_016856821.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "", "end": 1517, "referenceAllele": "CCGTACCA", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.1363_1370del" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Val455ArgfsTer?", "hgvsWellDefined": "XP_016856822.1:p.[Val455_Gly458delinsArgCysSerLeu;Arg460_Phe467delinsAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln486delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "", "end": 1410, "referenceAllele": "CCGTACCA", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.1324_1331del" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Val442ArgfsTer?", "hgvsWellDefined": "XP_016856823.1:p.[Val442_Gly445delinsArgCysSerLeu;Arg447_Phe454delinsAspAlaGlyGlyIleSer;Thr456_Met463delinsArgSerCysPheHisArgHisGlu;Lys465_Arg468delinsGlyPheProCys;Tyr470_Gln473delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "", "end": 1356, "referenceAllele": "CCGTACCA", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.1045_1052del" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Val349ArgfsTer?", "hgvsWellDefined": "XP_016856824.1:p.[Val349_Gly352delinsArgCysSerLeu;Arg354_Phe361delinsAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln380delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "", "end": 1440, "referenceAllele": "CCGTACCA", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.976_983del" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Val326ArgfsTer?", "hgvsWellDefined": "XP_016856825.1:p.[Val326_Gly329delinsArgCysSerLeu;Arg331_Phe338delinsAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln357delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "", "end": 1380, "referenceAllele": "CCGTACCA", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.976_983del" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Val326ArgfsTer?", "hgvsWellDefined": "XP_016856826.1:p.[Val326_Gly329delinsArgCysSerLeu;Arg331_Phe338delinsAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln357delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "", "end": 1405, "referenceAllele": "CCGTACCA", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.976_983del" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Val326ArgfsTer?", "hgvsWellDefined": "XP_024303012.1:p.[Val326_Gly329delinsArgCysSerLeu;Arg331_Phe338delinsAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln357delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "", "end": 1350, "referenceAllele": "CCGTACCA", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.976_983del" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Val326ArgfsTer?", "hgvsWellDefined": "XP_024303013.1:p.[Val326_Gly329delinsArgCysSerLeu;Arg331_Phe338delinsAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln357delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "", "end": 1321, "referenceAllele": "CCGTACCA", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.934_941del" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Val312ArgfsTer?", "hgvsWellDefined": "XP_024303016.1:p.[Val312_Gly315delinsArgCysSerLeu;Arg317_Phe324delinsAspAlaGlyGlyIleSer;Thr326_Met333delinsArgSerCysPheHisArgHisGlu;Lys335_Arg338delinsGlyPheProCys;Tyr340_Gln343delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "", "end": 1673, "referenceAllele": "CCGTACCA", "start": 1665 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.805_812del" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Val269ArgfsTer?", "hgvsWellDefined": "XP_024303017.1:p.[Val269_Gly272delinsArgCysSerLeu;Arg274_Phe281delinsAspAlaGlyGlyIleSer;Thr283_Met290delinsArgSerCysPheHisArgHisGlu;Lys292_Arg295delinsGlyPheProCys;Tyr297_Gln300delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "", "end": 1674, "referenceAllele": "CCGTACCA", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.805_812del" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Val269ArgfsTer?", "hgvsWellDefined": "XP_024303018.1:p.[Val269_Gly272delinsArgCysSerLeu;Arg274_Phe281delinsAspAlaGlyGlyIleSer;Thr283_Met290delinsArgSerCysPheHisArgHisGlu;Lys292_Arg295delinsGlyPheProCys;Tyr297_Gln300delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "", "end": 1308, "referenceAllele": "CCGTACCA", "start": 1300 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.805_812del" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Val269ArgfsTer?", "hgvsWellDefined": "XP_024303019.1:p.[Val269_Gly272delinsArgCysSerLeu;Arg274_Phe281delinsAspAlaGlyGlyIleSer;Thr283_Met290delinsArgSerCysPheHisArgHisGlu;Lys292_Arg295delinsGlyPheProCys;Tyr297_Gln300delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "", "end": 1373, "referenceAllele": "CCGTACCA", "start": 1365 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.1366_1373del" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "", "end": 1185, "referenceAllele": "CCGTACCA", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.1178_1185del" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "", "end": 1365, "referenceAllele": "CCGTACCA", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.1358_1365del" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "", "end": 1900, "referenceAllele": "CCGTACCA", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1893_1900del" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "", "end": 1473, "referenceAllele": "CCGTACCA", "start": 1465 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.1466_1473del" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "coordinates": [ { "allele": "", "end": 1556, "referenceAllele": "CCGTACCA", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.1321_1328del" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Val441ArgfsTer?", "hgvsWellDefined": "NP_001041636.2:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "coordinates": [ { "allele": "", "end": 1598, "referenceAllele": "CCGTACCA", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.1405_1412del" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Val469ArgfsTer?", "hgvsWellDefined": "NP_001121897.1:p.[Val469_Gly472delinsArgCysSerLeu;Arg474_Phe481delinsAspAlaGlyGlyIleSer;Thr483_Met490delinsArgSerCysPheHisArgHisGlu;Lys492_Arg495delinsGlyPheProCys;Tyr497_Gln500delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1405_1412del" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1405_1412del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Val469ArgfsTer?" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Val469ArgfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 1482, "referenceAllele": "CCGTACCA", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.1324_1331del" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Val442ArgfsTer?", "hgvsWellDefined": "NP_001041637.1:p.[Val442_Gly445delinsArgCysSerLeu;Arg447_Phe454delinsAspAlaGlyGlyIleSer;Thr456_Met463delinsArgSerCysPheHisArgHisGlu;Lys465_Arg468delinsGlyPheProCys;Tyr470_Gln473delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "coordinates": [ { "allele": "", "end": 1479, "referenceAllele": "CCGTACCA", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.1321_1328del" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Val441ArgfsTer?", "hgvsWellDefined": "NP_001041638.1:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "coordinates": [ { "allele": "", "end": 1406, "referenceAllele": "CCGTACCA", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.1321_1328del" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Val441ArgfsTer?", "hgvsWellDefined": "NP_001041639.1:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1321_1328del" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1321_1328del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Val441ArgfsTer?" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Val441ArgfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 1559, "referenceAllele": "CCGTACCA", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.1366_1373del" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Val456ArgfsTer?", "hgvsWellDefined": "NP_001280119.1:p.[Val456_Gly459delinsArgCysSerLeu;Arg461_Phe468delinsAspAlaGlyGlyIleSer;Thr470_Met477delinsArgSerCysPheHisArgHisGlu;Lys479_Arg482delinsGlyPheProCys;Tyr484_Gln487delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "coordinates": [ { "allele": "", "end": 1439, "referenceAllele": "CCGTACCA", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.1354_1361del" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Val452ArgfsTer?", "hgvsWellDefined": "NP_001280120.1:p.[Val452_Gly455delinsArgCysSerLeu;Arg457_Phe464delinsAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln483delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "coordinates": [ { "allele": "", "end": 1492, "referenceAllele": "CCGTACCA", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.1045_1052del" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Val349ArgfsTer?", "hgvsWellDefined": "NP_001280121.1:p.[Val349_Gly352delinsArgCysSerLeu;Arg354_Phe361delinsAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln380delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "coordinates": [ { "allele": "", "end": 1556, "referenceAllele": "CCGTACCA", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.1321_1328del" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Val441ArgfsTer?", "hgvsWellDefined": "NP_001280124.1:p.[Val441_Gly444delinsArgCysSerLeu;Arg446_Phe453delinsAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln472delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "coordinates": [ { "allele": "", "end": 1415, "referenceAllele": "CCGTACCA", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.1045_1052del" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Val349ArgfsTer?", "hgvsWellDefined": "NP_001280125.1:p.[Val349_Gly352delinsArgCysSerLeu;Arg354_Phe361delinsAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln380delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "coordinates": [ { "allele": "", "end": 1482, "referenceAllele": "CCGTACCA", "start": 1474 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.976_983del" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Val326ArgfsTer?", "hgvsWellDefined": "NP_001337579.1:p.[Val326_Gly329delinsArgCysSerLeu;Arg331_Phe338delinsAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln357delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "coordinates": [ { "allele": "", "end": 1418, "referenceAllele": "CCGTACCA", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.976_983del" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Val326ArgfsTer?", "hgvsWellDefined": "NP_001337580.1:p.[Val326_Gly329delinsArgCysSerLeu;Arg331_Phe338delinsAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln357delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "coordinates": [ { "allele": "", "end": 1589, "referenceAllele": "CCGTACCA", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.1396_1403del" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Val466ArgfsTer?", "hgvsWellDefined": "NP_036354.1:p.[Val466_Gly469delinsArgCysSerLeu;Arg471_Phe478delinsAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln497delinsSerGlyProThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "", "end": 1556, "referenceAllele": "CCGTACCA", "start": 1548 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1549_1556del" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "", "end": 1405, "referenceAllele": "CCGTACCA", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.1398_1405del" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }