Canonical Allele Identifier: CA056255
Gene: MUTYH HGNC NCBI

Linked Data

dbSNP Id: rs780322075

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331259_45331260insTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAA , CM000663.2:g.45331259_45331260insTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAA GRCh38
NC_000001.10:g.45796931_45796932insTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAA , CM000663.1:g.45796931_45796932insTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAA GRCh37
NC_000001.9:g.45569518_45569519insTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAA NCBI36
NG_008189.1:g.14211_14212insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA , LRG_220:g.14211_14212insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.930_931insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000410263.2:p.Thr311PhefsTer5
ENST00000435155.2:c.1347_1348insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000403655.2:p.Thr450PhefsTer5
ENST00000467459.6:c.*176_*177insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000435889.2:n.*176_*177insTTCTGTCCA...
ENST00000483127.2:c.1332_1333insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000436469.2:p.Thr445PhefsTer5
ENST00000485271.6:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000431264.2:p.Thr439PhefsTer5
ENST00000529892.6:c.1167_1168insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000432528.2:p.Thr390PhefsTer5
ENST00000533178.6:c.*643_*644insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000436430.2:n.*643_*644insTTCTGTCCA...
ENST00000672314.2:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000500828.2:p.Thr439PhefsTer5
ENST00000710952.2:c.1398_1399insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA MANE Plus Clinical ENSP00000518552.2:p.Thr467PhefsTer5
ENST00000672818.3:c.1389_1390insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000500891.1:p.Thr464PhefsTer5
ENST00000456914.7:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA MANE Select ENSP00000407590.2:p.Thr439PhefsTer5
ENST00000671898.1:c.1902_1903insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000499896.1:p.Thr635PhefsTer5
ENST00000672011.1:c.*643_*644insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000500418.1:n.*643_*644insTTCTGTCCA...
ENST00000672314.1:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000500828.1:p.Thr439PhefsTer5
ENST00000672818.2:c.1389_1390insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000500891.1:p.Thr464PhefsTer5
ENST00000673134.1:c.*1011_*1012insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000500526.1:n.*1011_*1012insTTCTGTC...
ENST00000354383.10:c.1317_1318insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000346354.6:p.Thr440PhefsTer5
ENST00000355498.6:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000347685.2:p.Thr439PhefsTer5
ENST00000372098.7:c.1389_1390insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000361170.3:p.Thr464PhefsTer5
ENST00000372104.5:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000361176.1:p.Thr439PhefsTer5
ENST00000372110.7:c.1359_1360insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000361182.3:p.Thr454PhefsTer5
ENST00000372115.7:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000361187.3:p.Thr453PhefsTer5
ENST00000448481.5:c.1347_1348insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000409718.1:p.Thr450PhefsTer5
ENST00000450313.5:c.1398_1399insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000408176.1:p.Thr467PhefsTer5
ENST00000456914.6:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000407590.2:p.Thr439PhefsTer5
ENST00000467459.5:c.731_732insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000435889.1:n.731_732insTTCTGTCCAGA...
ENST00000475516.5:c.*1127_*1128insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000433843.1:n.*1127_*1128insTTCTGTC...
ENST00000481571.5:c.*1127_*1128insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000436597.1:n.*1127_*1128insTTCTGTC...
ENST00000482094.5:n.635_636insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
ENST00000485271.5:c.11_12insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
ENST00000488731.6:c.399_400insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000432330.1:p.Thr134PhefsTer5
ENST00000528013.6:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000433130.2:p.Thr453PhefsTer5
ENST00000529892.5:c.389_390insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
ENST00000529984.5:c.399_400insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000437093.1:p.Thr134PhefsTer5
ENST00000531105.5:c.116-1823_116-1822insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000431292.1:n.116-1823_116-1822insT...
ENST00000533178.5:c.943_944insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA ENSP00000436430.1:n.943_944insTTCTGTCCAGA...
NM_001048171.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001041636.1:p.Thr453PhefsTer5
NM_001048172.1:c.1317_1318insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001041637.1:p.Thr440PhefsTer5
NM_001048173.1:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001041638.1:p.Thr439PhefsTer5
NM_001048174.1:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001041639.1:p.Thr439PhefsTer5
NM_001128425.1:c.1398_1399insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA , LRG_220t1:c.1398_1399insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001121897.1:p.Thr467PhefsTer5
NM_001293190.1:c.1359_1360insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280119.1:p.Thr454PhefsTer5
NM_001293191.1:c.1347_1348insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280120.1:p.Thr450PhefsTer5
NM_001293192.1:c.1038_1039insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280121.1:p.Thr347PhefsTer5
NM_001293195.1:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280124.1:p.Thr439PhefsTer5
NM_001293196.1:c.1038_1039insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280125.1:p.Thr347PhefsTer5
NM_012222.2:c.1389_1390insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_036354.1:p.Thr464PhefsTer5
XM_011541497.1:c.1374_1375insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539799.1:p.Thr459PhefsTer5
XM_011541498.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539800.1:p.Thr453PhefsTer5
XM_011541499.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539801.1:p.Thr453PhefsTer5
XM_011541500.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539802.1:p.Thr453PhefsTer5
XM_011541501.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539803.1:p.Thr453PhefsTer5
XM_011541502.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539804.1:p.Thr453PhefsTer5
XM_011541503.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539805.1:p.Thr453PhefsTer5
XM_011541504.1:c.1347_1348insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539806.1:p.Thr450PhefsTer5
XM_011541505.1:c.936_937insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539807.1:p.Thr313PhefsTer5
XM_011541506.1:c.936_937insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539808.1:p.Thr313PhefsTer5
XM_011541507.1:c.927_928insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539809.1:p.Thr310PhefsTer5
XM_011541508.1:c.942_943insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539810.1:p.Thr315PhefsTer5
XR_946658.1:n.1445_1446insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
NM_001350650.1:c.969_970insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001337579.1:p.Thr324PhefsTer5
NM_001350651.1:c.969_970insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001337580.1:p.Thr324PhefsTer5
NR_146882.1:n.1572_1573insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
NR_146883.1:n.1386_1387insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
XM_011541497.3:c.1374_1375insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539799.1:p.Thr459PhefsTer5
XM_011541500.3:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539802.1:p.Thr453PhefsTer5
XM_011541501.2:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539803.1:p.Thr453PhefsTer5
XM_011541502.2:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539804.1:p.Thr453PhefsTer5
XM_011541503.2:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539805.1:p.Thr453PhefsTer5
XM_011541504.2:c.1347_1348insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539806.1:p.Thr450PhefsTer5
XM_011541505.2:c.936_937insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539807.1:p.Thr313PhefsTer5
XM_011541506.2:c.936_937insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_011539808.1:p.Thr313PhefsTer5
XM_017001331.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_016856820.1:p.Thr453PhefsTer5
XM_017001332.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_016856821.1:p.Thr453PhefsTer5
XM_017001333.1:c.1356_1357insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_016856822.1:p.Thr453PhefsTer5
XM_017001334.1:c.1317_1318insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_016856823.1:p.Thr440PhefsTer5
XM_017001335.1:c.1038_1039insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_016856824.1:p.Thr347PhefsTer5
XM_017001336.1:c.969_970insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_016856825.1:p.Thr324PhefsTer5
XM_017001337.1:c.969_970insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_016856826.1:p.Thr324PhefsTer5
XM_024447244.1:c.969_970insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_024303012.1:p.Thr324PhefsTer5
XM_024447245.1:c.969_970insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_024303013.1:p.Thr324PhefsTer5
XM_024447248.1:c.927_928insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_024303016.1:p.Thr310PhefsTer5
XM_024447249.1:c.798_799insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_024303017.1:p.Thr267PhefsTer5
XM_024447250.1:c.798_799insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_024303018.1:p.Thr267PhefsTer5
XM_024447251.1:c.798_799insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA XP_024303019.1:p.Thr267PhefsTer5
XR_001737190.1:n.1359_1360insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
XR_001737192.1:n.1171_1172insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
XR_002956643.1:n.1351_1352insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
XR_002956644.1:n.1886_1887insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
XR_946658.2:n.1459_1460insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
NM_001048171.2:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001041636.2:p.Thr439PhefsTer5
NM_001128425.2:c.1398_1399insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA MANE Plus Clinical NP_001121897.1:p.Thr467PhefsTer5
NM_001048172.2:c.1317_1318insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001041637.1:p.Thr440PhefsTer5
NM_001048173.2:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001041638.1:p.Thr439PhefsTer5
NM_001048174.2:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA MANE Select NP_001041639.1:p.Thr439PhefsTer5
NM_001293190.2:c.1359_1360insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280119.1:p.Thr454PhefsTer5
NM_001293191.2:c.1347_1348insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280120.1:p.Thr450PhefsTer5
NM_001293192.2:c.1038_1039insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280121.1:p.Thr347PhefsTer5
NM_001293195.2:c.1314_1315insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280124.1:p.Thr439PhefsTer5
NM_001293196.2:c.1038_1039insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001280125.1:p.Thr347PhefsTer5
NM_001350650.2:c.969_970insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001337579.1:p.Thr324PhefsTer5
NM_001350651.2:c.969_970insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_001337580.1:p.Thr324PhefsTer5
NM_012222.3:c.1389_1390insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA NP_036354.1:p.Thr464PhefsTer5
NR_146882.2:n.1542_1543insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA
NR_146883.2:n.1391_1392insTTCTGTCCAGACTGATCTGCCCTCCAACCCCCAGGAGA