{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2573132016", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.1322_1323del (p.Val441AlafsTer?)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1344992[alleleid]", "alleleId": 1344992, "preferredName": "NM_001048174.2(MUTYH):c.1322_1323del (p.Val441fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1494850", "RCV": [ "RCV001999028" ], "variationId": 1494850 } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2149112658", "rs": 2149112658 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "", "end": 45331252, "referenceAllele": "TA", "start": 45331250 } ], "hgvs": [ "NC_000001.11:g.45331251_45331252del", "CM000663.2:g.45331251_45331252del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "", "end": 45796924, "referenceAllele": "TA", "start": 45796922 } ], "hgvs": [ "NC_000001.10:g.45796923_45796924del", "CM000663.1:g.45796923_45796924del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "", "end": 45569511, "referenceAllele": "TA", "start": 45569509 } ], "hgvs": [ "NC_000001.9:g.45569510_45569511del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "", "end": 14220, "referenceAllele": "TA", "start": 14218 } ], "hgvs": [ "NG_008189.1:g.14219_14220del", "LRG_220:g.14219_14220del" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 1066, "referenceAllele": "TA", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.938_939del" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Val313AlafsTer?", "hgvsWellDefined": "ENSP00000410263.2:p.[Val313_Phe325delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr327_Met334delinsArgSerCysPheHisArgHisGlu;Lys336_Arg339delinsGlyPheProCys;Tyr341_Gln342delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "", "end": 1507, "referenceAllele": "TA", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.1355_1356del" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Val452AlafsTer?", "hgvsWellDefined": "ENSP00000403655.2:p.[Val452_Phe464delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln481delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "", "end": 1424, "referenceAllele": "TA", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.*184_*185del" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:n.*184_*185del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "", "end": 1847, "referenceAllele": "TA", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.1340_1341del" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Val447AlafsTer?", "hgvsWellDefined": "ENSP00000436469.2:p.[Val447_Phe459delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr461_Met468delinsArgSerCysPheHisArgHisGlu;Lys470_Arg473delinsGlyPheProCys;Tyr475_Gln476delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "", "end": 1375, "referenceAllele": "TA", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.1322_1323del" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Val441AlafsTer?", "hgvsWellDefined": "ENSP00000431264.2:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "", "end": 1337, "referenceAllele": "TA", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.1175_1176del" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Val392AlafsTer?", "hgvsWellDefined": "ENSP00000432528.2:p.[Val392_Phe404delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr406_Met413delinsArgSerCysPheHisArgHisGlu;Lys415_Arg418delinsGlyPheProCys;Tyr420_Gln421delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "", "end": 952, "referenceAllele": "TA", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.*651_*652del" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.*651_*652del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "", "end": 2453, "referenceAllele": "TA", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.1322_1323del" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Val441AlafsTer?", "hgvsWellDefined": "ENSP00000500828.2:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "", "end": 1593, "referenceAllele": "TA", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.1406_1407del" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Val469AlafsTer?", "hgvsWellDefined": "ENSP00000518552.2:p.[Val469_Phe481delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr483_Met490delinsArgSerCysPheHisArgHisGlu;Lys492_Arg495delinsGlyPheProCys;Tyr497_Gln498delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1406_1407del" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1406_1407del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Val469AlafsTer?" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Val469AlafsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 1584, "referenceAllele": "TA", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.1397_1398del" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Val466AlafsTer?", "hgvsWellDefined": "ENSP00000500891.1:p.[Val466_Phe478delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln495delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "", "end": 1401, "referenceAllele": "TA", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.1322_1323del" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Val441AlafsTer?", "hgvsWellDefined": "ENSP00000407590.2:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1322_1323del" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1322_1323del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Val441AlafsTer?" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Val441AlafsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 2301, "referenceAllele": "TA", "start": 2299 } ], "hgvs": [ "ENST00000671898.1:c.1910_1911del" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Val637AlafsTer?", "hgvsWellDefined": "ENSP00000499896.1:p.[Val637_Phe649delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr651_Met658delinsArgSerCysPheHisArgHisGlu;Lys660_Arg663delinsGlyPheProCys;Tyr665_Gln666delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "", "end": 1930, "referenceAllele": "TA", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.*651_*652del" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.*651_*652del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "", "end": 2453, "referenceAllele": "TA", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.1322_1323del" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Val441AlafsTer?", "hgvsWellDefined": "ENSP00000500828.1:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Val465delinsGly]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "", "end": 1532, "referenceAllele": "TA", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.1397_1398del" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Val466AlafsTer?", "hgvsWellDefined": "ENSP00000500891.1:p.[Val466_Phe478delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln495delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "", "end": 1185, "referenceAllele": "TA", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*1019_*1020del" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*1019_*1020del" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "", "end": 1437, "referenceAllele": "TA", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.1325_1326del" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Val442AlafsTer?", "hgvsWellDefined": "ENSP00000346354.6:p.[Val442_Phe454delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr456_Met463delinsArgSerCysPheHisArgHisGlu;Lys465_Arg468delinsGlyPheProCys;Tyr470_Gln471delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "", "end": 1469, "referenceAllele": "TA", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.1322_1323del" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Val441AlafsTer?", "hgvsWellDefined": "ENSP00000347685.2:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "", "end": 1532, "referenceAllele": "TA", "start": 1530 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.1397_1398del" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Val466AlafsTer?", "hgvsWellDefined": "ENSP00000361170.3:p.[Val466_Phe478delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln495delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "", "end": 1516, "referenceAllele": "TA", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.1322_1323del" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Val441AlafsTer?", "hgvsWellDefined": "ENSP00000361176.1:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "", "end": 1502, "referenceAllele": "TA", "start": 1500 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.1367_1368del" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Val456AlafsTer?", "hgvsWellDefined": "ENSP00000361182.3:p.[Val456_Phe468delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr470_Met477delinsArgSerCysPheHisArgHisGlu;Lys479_Arg482delinsGlyPheProCys;Tyr484_Gln485delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "", "end": 1581, "referenceAllele": "TA", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.1364_1365del" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Val455AlafsTer?", "hgvsWellDefined": "ENSP00000361187.3:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "", "end": 1399, "referenceAllele": "TA", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.1355_1356del" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Val452AlafsTer?", "hgvsWellDefined": "ENSP00000409718.1:p.[Val452_Phe464delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln481delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "", "end": 1623, "referenceAllele": "TA", "start": 1621 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.1406_1407del" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Val469AlafsTer?", "hgvsWellDefined": "ENSP00000408176.1:p.[Val469_Phe481delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr483_Met490delinsArgSerCysPheHisArgHisGlu;Lys492_Arg495delinsGlyPheProCys;Tyr497_Gln498delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "", "end": 1385, "referenceAllele": "TA", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.1322_1323del" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Val441AlafsTer?", "hgvsWellDefined": "ENSP00000407590.2:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "", "end": 740, "referenceAllele": "TA", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.739_740del" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:n.739_740del" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "", "end": 1370, "referenceAllele": "TA", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*1135_*1136del" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*1135_*1136del" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "", "end": 1435, "referenceAllele": "TA", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*1135_*1136del" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*1135_*1136del" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "", "end": 644, "referenceAllele": "TA", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000482094.5:n.643_644del" ], "referenceSequence": "http://reg.genome.network/refseq/RS321874" }, { "coordinates": [ { "allele": "", "end": 20, "referenceAllele": "TA", "start": 18 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.5:c.19_20del" ], "referenceSequence": "http://reg.genome.network/refseq/RS324338" }, { "coordinates": [ { "allele": "", "end": 434, "referenceAllele": "TA", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.407_408del" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:p.Val136AlafsTer?", "hgvsWellDefined": "ENSP00000432330.1:p.[Val136_Phe148delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr150_Met157delinsArgSerCysPheHisArgHisGlu;Lys159_Arg162delinsGlyPheProCys;Tyr164_Gln165delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "", "end": 1419, "referenceAllele": "TA", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.1364_1365del" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Val455AlafsTer?", "hgvsWellDefined": "ENSP00000433130.2:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "", "end": 398, "referenceAllele": "TA", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.5:c.397_398del" ], "referenceSequence": "http://reg.genome.network/refseq/RS247332" }, { "coordinates": [ { "allele": "", "end": 643, "referenceAllele": "TA", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.407_408del" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:p.Val136AlafsTer?", "hgvsWellDefined": "ENSP00000437093.1:p.[Val136_Phe148delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr150_Met157delinsArgSerCysPheHisArgHisGlu;Lys159_Arg162delinsGlyPheProCys;Tyr164_Gln165delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "", "end": 309, "endIntronDirection": "-", "endIntronOffset": 1813, "referenceAllele": "TA", "start": 309, "startIntronDirection": "-", "startIntronOffset": 1815 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.116-1815_116-1814del" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.116-1815_116-1814del" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "", "end": 952, "referenceAllele": "TA", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.951_952del" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.951_952del" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "", "end": 1581, "referenceAllele": "TA", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Val455AlafsTer?", "hgvsWellDefined": "NP_001041636.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "coordinates": [ { "allele": "", "end": 1472, "referenceAllele": "TA", "start": 1470 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.1325_1326del" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Val442AlafsTer?", "hgvsWellDefined": "NP_001041637.1:p.[Val442_Phe454delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr456_Met463delinsArgSerCysPheHisArgHisGlu;Lys465_Arg468delinsGlyPheProCys;Tyr470_Gln471delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "coordinates": [ { "allele": "", "end": 1469, "referenceAllele": "TA", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.1322_1323del" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Val441AlafsTer?", "hgvsWellDefined": "NP_001041638.1:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "coordinates": [ { "allele": "", "end": 1388, "referenceAllele": "TA", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.1322_1323del" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Val441AlafsTer?", "hgvsWellDefined": "NP_001041639.1:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "coordinates": [ { "allele": "", "end": 1623, "referenceAllele": "TA", "start": 1621 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.1406_1407del", "LRG_220t1:c.1406_1407del" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Val469AlafsTer?", "hgvsWellDefined": "NP_001121897.1:p.[Val469_Phe481delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr483_Met490delinsArgSerCysPheHisArgHisGlu;Lys492_Arg495delinsGlyPheProCys;Tyr497_Gln498delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "coordinates": [ { "allele": "", "end": 1584, "referenceAllele": "TA", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.1367_1368del" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Val456AlafsTer?", "hgvsWellDefined": "NP_001280119.1:p.[Val456_Phe468delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr470_Met477delinsArgSerCysPheHisArgHisGlu;Lys479_Arg482delinsGlyPheProCys;Tyr484_Gln485delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "coordinates": [ { "allele": "", "end": 1421, "referenceAllele": "TA", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.1355_1356del" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Val452AlafsTer?", "hgvsWellDefined": "NP_001280120.1:p.[Val452_Phe464delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln481delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "coordinates": [ { "allele": "", "end": 1517, "referenceAllele": "TA", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.1046_1047del" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Val349AlafsTer?", "hgvsWellDefined": "NP_001280121.1:p.[Val349_Phe361delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln378delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "coordinates": [ { "allele": "", "end": 1538, "referenceAllele": "TA", "start": 1536 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.1322_1323del" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Val441AlafsTer?", "hgvsWellDefined": "NP_001280124.1:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "coordinates": [ { "allele": "", "end": 1406, "referenceAllele": "TA", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.1046_1047del" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Val349AlafsTer?", "hgvsWellDefined": "NP_001280125.1:p.[Val349_Phe361delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln378delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "coordinates": [ { "allele": "", "end": 1614, "referenceAllele": "TA", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.1397_1398del" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Val466AlafsTer?", "hgvsWellDefined": "NP_036354.1:p.[Val466_Phe478delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln495delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "", "end": 1686, "referenceAllele": "TA", "start": 1684 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.1382_1383del" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Val461AlafsTer?", "hgvsWellDefined": "XP_011539799.1:p.[Val461_Phe473delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr475_Met482delinsArgSerCysPheHisArgHisGlu;Lys484_Arg487delinsGlyPheProCys;Tyr489_Gln490delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "", "end": 1458, "referenceAllele": "TA", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539800.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "", "end": 1444, "referenceAllele": "TA", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539801.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "", "end": 1621, "referenceAllele": "TA", "start": 1619 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539802.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "", "end": 1569, "referenceAllele": "TA", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539803.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "", "end": 1602, "referenceAllele": "TA", "start": 1600 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539804.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "", "end": 1412, "referenceAllele": "TA", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539805.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "", "end": 1478, "referenceAllele": "TA", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.1355_1356del" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Val452AlafsTer?", "hgvsWellDefined": "XP_011539806.1:p.[Val452_Phe464delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln481delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "", "end": 1113, "referenceAllele": "TA", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.944_945del" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Val315AlafsTer?", "hgvsWellDefined": "XP_011539807.1:p.[Val315_Phe327delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr329_Met336delinsArgSerCysPheHisArgHisGlu;Lys338_Arg341delinsGlyPheProCys;Tyr343_Gln344delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "", "end": 1111, "referenceAllele": "TA", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.944_945del" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Val315AlafsTer?", "hgvsWellDefined": "XP_011539808.1:p.[Val315_Phe327delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr329_Met336delinsArgSerCysPheHisArgHisGlu;Lys338_Arg341delinsGlyPheProCys;Tyr343_Gln344delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "", "end": 943, "referenceAllele": "TA", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.935_936del" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Val312AlafsTer?", "hgvsWellDefined": "XP_011539809.1:p.[Val312_Phe324delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr326_Met333delinsArgSerCysPheHisArgHisGlu;Lys335_Arg338delinsGlyPheProCys;Tyr340_Gln341delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "", "end": 976, "referenceAllele": "TA", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.950_951del" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Val317AlafsTer?", "hgvsWellDefined": "XP_011539810.1:p.[Val317_Phe329delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr331_Met338delinsArgSerCysPheHisArgHisGlu;Lys340_Arg343delinsGlyPheProCys;Tyr345_Gln346delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "", "end": 1454, "referenceAllele": "TA", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.1453_1454del" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "coordinates": [ { "allele": "", "end": 1507, "referenceAllele": "TA", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.977_978del" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Val326AlafsTer?", "hgvsWellDefined": "NP_001337579.1:p.[Val326_Phe338delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln355delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "coordinates": [ { "allele": "", "end": 1443, "referenceAllele": "TA", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.977_978del" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Val326AlafsTer?", "hgvsWellDefined": "NP_001337580.1:p.[Val326_Phe338delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln355delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "", "end": 1581, "referenceAllele": "TA", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1580_1581del" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "", "end": 1395, "referenceAllele": "TA", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.1394_1395del" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "", "end": 1681, "referenceAllele": "TA", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.1382_1383del" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Val461AlafsTer?", "hgvsWellDefined": "XP_011539799.1:p.[Val461_Phe473delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr475_Met482delinsArgSerCysPheHisArgHisGlu;Lys484_Arg487delinsGlyPheProCys;Tyr489_Gln490delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "", "end": 1659, "referenceAllele": "TA", "start": 1657 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539802.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "", "end": 1553, "referenceAllele": "TA", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539803.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "", "end": 1458, "referenceAllele": "TA", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539804.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "", "end": 1426, "referenceAllele": "TA", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_011539805.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "", "end": 1507, "referenceAllele": "TA", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.1355_1356del" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Val452AlafsTer?", "hgvsWellDefined": "XP_011539806.1:p.[Val452_Phe464delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln481delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "", "end": 1127, "referenceAllele": "TA", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.944_945del" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Val315AlafsTer?", "hgvsWellDefined": "XP_011539807.1:p.[Val315_Phe327delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr329_Met336delinsArgSerCysPheHisArgHisGlu;Lys338_Arg341delinsGlyPheProCys;Tyr343_Gln344delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "", "end": 1169, "referenceAllele": "TA", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.944_945del" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Val315AlafsTer?", "hgvsWellDefined": "XP_011539808.1:p.[Val315_Phe327delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr329_Met336delinsArgSerCysPheHisArgHisGlu;Lys338_Arg341delinsGlyPheProCys;Tyr343_Gln344delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "", "end": 1457, "referenceAllele": "TA", "start": 1455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_016856820.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "", "end": 1459, "referenceAllele": "TA", "start": 1457 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_016856821.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "", "end": 1512, "referenceAllele": "TA", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.1364_1365del" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Val455AlafsTer?", "hgvsWellDefined": "XP_016856822.1:p.[Val455_Phe467delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr469_Met476delinsArgSerCysPheHisArgHisGlu;Lys478_Arg481delinsGlyPheProCys;Tyr483_Gln484delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "", "end": 1405, "referenceAllele": "TA", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.1325_1326del" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Val442AlafsTer?", "hgvsWellDefined": "XP_016856823.1:p.[Val442_Phe454delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr456_Met463delinsArgSerCysPheHisArgHisGlu;Lys465_Arg468delinsGlyPheProCys;Tyr470_Gln471delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "", "end": 1351, "referenceAllele": "TA", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.1046_1047del" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Val349AlafsTer?", "hgvsWellDefined": "XP_016856824.1:p.[Val349_Phe361delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln378delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "", "end": 1435, "referenceAllele": "TA", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.977_978del" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Val326AlafsTer?", "hgvsWellDefined": "XP_016856825.1:p.[Val326_Phe338delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln355delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "", "end": 1375, "referenceAllele": "TA", "start": 1373 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.977_978del" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Val326AlafsTer?", "hgvsWellDefined": "XP_016856826.1:p.[Val326_Phe338delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln355delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "", "end": 1400, "referenceAllele": "TA", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.977_978del" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Val326AlafsTer?", "hgvsWellDefined": "XP_024303012.1:p.[Val326_Phe338delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln355delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "", "end": 1345, "referenceAllele": "TA", "start": 1343 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.977_978del" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Val326AlafsTer?", "hgvsWellDefined": "XP_024303013.1:p.[Val326_Phe338delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln355delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "", "end": 1316, "referenceAllele": "TA", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.935_936del" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Val312AlafsTer?", "hgvsWellDefined": "XP_024303016.1:p.[Val312_Phe324delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr326_Met333delinsArgSerCysPheHisArgHisGlu;Lys335_Arg338delinsGlyPheProCys;Tyr340_Gln341delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "", "end": 1668, "referenceAllele": "TA", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.806_807del" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Val269AlafsTer?", "hgvsWellDefined": "XP_024303017.1:p.[Val269_Phe281delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr283_Met290delinsArgSerCysPheHisArgHisGlu;Lys292_Arg295delinsGlyPheProCys;Tyr297_Gln298delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "", "end": 1669, "referenceAllele": "TA", "start": 1667 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.806_807del" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Val269AlafsTer?", "hgvsWellDefined": "XP_024303018.1:p.[Val269_Phe281delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr283_Met290delinsArgSerCysPheHisArgHisGlu;Lys292_Arg295delinsGlyPheProCys;Tyr297_Gln298delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "", "end": 1303, "referenceAllele": "TA", "start": 1301 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.806_807del" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Val269AlafsTer?", "hgvsWellDefined": "XP_024303019.1:p.[Val269_Phe281delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr283_Met290delinsArgSerCysPheHisArgHisGlu;Lys292_Arg295delinsGlyPheProCys;Tyr297_Gln298delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "", "end": 1368, "referenceAllele": "TA", "start": 1366 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.1367_1368del" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "", "end": 1180, "referenceAllele": "TA", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.1179_1180del" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "", "end": 1360, "referenceAllele": "TA", "start": 1358 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.1359_1360del" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "", "end": 1895, "referenceAllele": "TA", "start": 1893 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1894_1895del" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "", "end": 1468, "referenceAllele": "TA", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.1467_1468del" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "coordinates": [ { "allele": "", "end": 1551, "referenceAllele": "TA", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.1322_1323del" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Val441AlafsTer?", "hgvsWellDefined": "NP_001041636.2:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "coordinates": [ { "allele": "", "end": 1593, "referenceAllele": "TA", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.1406_1407del" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Val469AlafsTer?", "hgvsWellDefined": "NP_001121897.1:p.[Val469_Phe481delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr483_Met490delinsArgSerCysPheHisArgHisGlu;Lys492_Arg495delinsGlyPheProCys;Tyr497_Gln498delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1406_1407del" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1406_1407del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Val469AlafsTer?" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Val469AlafsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 1477, "referenceAllele": "TA", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.1325_1326del" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Val442AlafsTer?", "hgvsWellDefined": "NP_001041637.1:p.[Val442_Phe454delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr456_Met463delinsArgSerCysPheHisArgHisGlu;Lys465_Arg468delinsGlyPheProCys;Tyr470_Gln471delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "coordinates": [ { "allele": "", "end": 1474, "referenceAllele": "TA", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.1322_1323del" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Val441AlafsTer?", "hgvsWellDefined": "NP_001041638.1:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "coordinates": [ { "allele": "", "end": 1401, "referenceAllele": "TA", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.1322_1323del" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Val441AlafsTer?", "hgvsWellDefined": "NP_001041639.1:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1322_1323del" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1322_1323del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Val441AlafsTer?" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Val441AlafsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 1554, "referenceAllele": "TA", "start": 1552 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.1367_1368del" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Val456AlafsTer?", "hgvsWellDefined": "NP_001280119.1:p.[Val456_Phe468delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr470_Met477delinsArgSerCysPheHisArgHisGlu;Lys479_Arg482delinsGlyPheProCys;Tyr484_Gln485delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "coordinates": [ { "allele": "", "end": 1434, "referenceAllele": "TA", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.1355_1356del" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Val452AlafsTer?", "hgvsWellDefined": "NP_001280120.1:p.[Val452_Phe464delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr466_Met473delinsArgSerCysPheHisArgHisGlu;Lys475_Arg478delinsGlyPheProCys;Tyr480_Gln481delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "coordinates": [ { "allele": "", "end": 1487, "referenceAllele": "TA", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.1046_1047del" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Val349AlafsTer?", "hgvsWellDefined": "NP_001280121.1:p.[Val349_Phe361delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln378delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "coordinates": [ { "allele": "", "end": 1551, "referenceAllele": "TA", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.1322_1323del" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Val441AlafsTer?", "hgvsWellDefined": "NP_001280124.1:p.[Val441_Phe453delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr455_Met462delinsArgSerCysPheHisArgHisGlu;Lys464_Arg467delinsGlyPheProCys;Tyr469_Gln470delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "coordinates": [ { "allele": "", "end": 1410, "referenceAllele": "TA", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.1046_1047del" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Val349AlafsTer?", "hgvsWellDefined": "NP_001280125.1:p.[Val349_Phe361delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr363_Met370delinsArgSerCysPheHisArgHisGlu;Lys372_Arg375delinsGlyPheProCys;Tyr377_Gln378delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "coordinates": [ { "allele": "", "end": 1477, "referenceAllele": "TA", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.977_978del" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Val326AlafsTer?", "hgvsWellDefined": "NP_001337579.1:p.[Val326_Phe338delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln355delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "coordinates": [ { "allele": "", "end": 1413, "referenceAllele": "TA", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.977_978del" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Val326AlafsTer?", "hgvsWellDefined": "NP_001337580.1:p.[Val326_Phe338delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr340_Met347delinsArgSerCysPheHisArgHisGlu;Lys349_Arg352delinsGlyPheProCys;Tyr354_Gln355delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "coordinates": [ { "allele": "", "end": 1584, "referenceAllele": "TA", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.1397_1398del" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Val466AlafsTer?", "hgvsWellDefined": "NP_036354.1:p.[Val466_Phe478delinsAlaThrArgCysSerLeuAlaAspAlaGlyGlyIleSer;Thr480_Met487delinsArgSerCysPheHisArgHisGlu;Lys489_Arg492delinsGlyPheProCys;Tyr494_Gln495delinsSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "", "end": 1551, "referenceAllele": "TA", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1550_1551del" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "", "end": 1400, "referenceAllele": "TA", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.1399_1400del" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }