Canonical Allele Identifier: CA2499306924
Gene: MUTYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332292del , CM000663.2:g.45332292del GRCh38
NC_000001.10:g.45797964del , CM000663.1:g.45797964del GRCh37
NC_000001.9:g.45570551del NCBI36
NG_008189.1:g.13180del , LRG_220:g.13180del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.340del ENSP00000410263.2:p.Val114TrpfsTer16
ENST00000435155.2:c.757del ENSP00000403655.2:p.Val253TrpfsTer16
ENST00000467459.6:c.724del ENSP00000435889.2:p.Val242TrpfsTer16
ENST00000483127.2:c.742del ENSP00000436469.2:p.Val248TrpfsTer16
ENST00000485271.6:c.724del ENSP00000431264.2:p.Val242TrpfsTer16
ENST00000529892.6:c.766del ENSP00000432528.2:p.Val256TrpfsTer16
ENST00000533178.6:c.*53del ENSP00000436430.2:n.*53del
ENST00000672314.2:c.724del ENSP00000500828.2:p.Val242TrpfsTer16
ENST00000674679.2:c.*636del ENSP00000501623.2:n.*636del
ENST00000710952.2:c.808del MANE Plus Clinical ENSP00000518552.2:p.Val270TrpfsTer16
ENST00000672818.3:c.799del ENSP00000500891.1:p.Val267TrpfsTer16
ENST00000450313.6:c.*53del ENSP00000408176.2:n.*53del
ENST00000456914.7:c.724del MANE Select ENSP00000407590.2:p.Val242TrpfsTer16
ENST00000461495.6:c.*463del ENSP00000437166.1:n.*463del
ENST00000671898.1:c.1312del ENSP00000499896.1:p.Val438TrpfsTer16
ENST00000672011.1:c.*53del ENSP00000500418.1:n.*53del
ENST00000672314.1:c.724del ENSP00000500828.1:p.Val242TrpfsTer16
ENST00000672593.1:c.*777del ENSP00000500455.1:n.*777del
ENST00000672764.1:c.*53del ENSP00000500886.1:n.*53del
ENST00000672818.2:c.799del ENSP00000500891.1:p.Val267TrpfsTer16
ENST00000673134.1:c.*421del ENSP00000500526.1:n.*421del
ENST00000674679.1:c.752del ENSP00000501623.1:n.752del
ENST00000354383.10:c.727del ENSP00000346354.6:p.Val243TrpfsTer16
ENST00000355498.6:c.724del ENSP00000347685.2:p.Val242TrpfsTer16
ENST00000372098.7:c.799del ENSP00000361170.3:p.Val267TrpfsTer16
ENST00000372104.5:c.724del ENSP00000361176.1:p.Val242TrpfsTer16
ENST00000372110.7:c.769del ENSP00000361182.3:p.Val257TrpfsTer16
ENST00000372115.7:c.766del ENSP00000361187.3:p.Val256TrpfsTer16
ENST00000412971.5:c.340del ENSP00000410263.1:p.Val114TrpfsTer16
ENST00000435155.1:c.757del ENSP00000403655.1:p.Val253TrpfsTer16
ENST00000448481.5:c.757del ENSP00000409718.1:p.Val253TrpfsTer16
ENST00000450313.5:c.808del ENSP00000408176.1:p.Val270TrpfsTer16
ENST00000456914.6:c.724del ENSP00000407590.2:p.Val242TrpfsTer16
ENST00000461495.5:c.*463del ENSP00000437166.1:n.*463del
ENST00000462388.5:n.415del
ENST00000466231.1:n.89del
ENST00000467459.5:c.118del ENSP00000435889.1:p.Val40TrpfsTer16
ENST00000467940.5:c.*647del ENSP00000436478.1:n.*647del
ENST00000470256.5:c.*53del ENSP00000434985.1:n.*53del
ENST00000475516.5:c.*537del ENSP00000433843.1:n.*537del
ENST00000478796.5:n.711del
ENST00000481571.5:c.*537del ENSP00000436597.1:n.*537del
ENST00000488731.6:c.187+472del ENSP00000432330.1:n.187+472del
ENST00000528013.6:c.766del ENSP00000433130.2:p.Val256TrpfsTer16
ENST00000529984.5:c.187+472del ENSP00000437093.1:n.187+472del
ENST00000531105.5:c.115+2100del ENSP00000431292.1:n.115+2100del
ENST00000533178.5:c.353del ENSP00000436430.1:n.353del
NM_001048171.1:c.766del NP_001041636.1:p.Val256TrpfsTer16
NM_001048172.1:c.727del NP_001041637.1:p.Val243TrpfsTer16
NM_001048173.1:c.724del NP_001041638.1:p.Val242TrpfsTer16
NM_001048174.1:c.724del NP_001041639.1:p.Val242TrpfsTer16
NM_001128425.1:c.808del , LRG_220t1:c.808del NP_001121897.1:p.Val270TrpfsTer16
NM_001293190.1:c.769del NP_001280119.1:p.Val257TrpfsTer16
NM_001293191.1:c.757del NP_001280120.1:p.Val253TrpfsTer16
NM_001293192.1:c.448del NP_001280121.1:p.Val150TrpfsTer16
NM_001293195.1:c.724del NP_001280124.1:p.Val242TrpfsTer16
NM_001293196.1:c.448del NP_001280125.1:p.Val150TrpfsTer16
NM_012222.2:c.799del NP_036354.1:p.Val267TrpfsTer16
XM_011541497.1:c.784del XP_011539799.1:p.Val262TrpfsTer16
XM_011541498.1:c.766del XP_011539800.1:p.Val256TrpfsTer16
XM_011541499.1:c.766del XP_011539801.1:p.Val256TrpfsTer16
XM_011541500.1:c.766del XP_011539802.1:p.Val256TrpfsTer16
XM_011541501.1:c.766del XP_011539803.1:p.Val256TrpfsTer16
XM_011541502.1:c.766del XP_011539804.1:p.Val256TrpfsTer16
XM_011541503.1:c.766del XP_011539805.1:p.Val256TrpfsTer16
XM_011541504.1:c.757del XP_011539806.1:p.Val253TrpfsTer16
XM_011541505.1:c.346del XP_011539807.1:p.Val116TrpfsTer16
XM_011541506.1:c.346del XP_011539808.1:p.Val116TrpfsTer16
XM_011541507.1:c.337del XP_011539809.1:p.Val113TrpfsTer16
XM_011541508.1:c.352del XP_011539810.1:p.Val118TrpfsTer16
XR_946658.1:n.855del
NM_001350650.1:c.379del NP_001337579.1:p.Val127TrpfsTer16
NM_001350651.1:c.379del NP_001337580.1:p.Val127TrpfsTer16
NR_146882.1:n.982del
NR_146883.1:n.796del
XM_011541497.3:c.784del XP_011539799.1:p.Val262TrpfsTer16
XM_011541500.3:c.766del XP_011539802.1:p.Val256TrpfsTer16
XM_011541501.2:c.766del XP_011539803.1:p.Val256TrpfsTer16
XM_011541502.2:c.766del XP_011539804.1:p.Val256TrpfsTer16
XM_011541503.2:c.766del XP_011539805.1:p.Val256TrpfsTer16
XM_011541504.2:c.757del XP_011539806.1:p.Val253TrpfsTer16
XM_011541505.2:c.346del XP_011539807.1:p.Val116TrpfsTer16
XM_011541506.2:c.346del XP_011539808.1:p.Val116TrpfsTer16
XM_017001331.1:c.766del XP_016856820.1:p.Val256TrpfsTer16
XM_017001332.1:c.766del XP_016856821.1:p.Val256TrpfsTer16
XM_017001333.1:c.766del XP_016856822.1:p.Val256TrpfsTer16
XM_017001334.1:c.727del XP_016856823.1:p.Val243TrpfsTer16
XM_017001335.1:c.448del XP_016856824.1:p.Val150TrpfsTer16
XM_017001336.1:c.379del XP_016856825.1:p.Val127TrpfsTer16
XM_017001337.1:c.379del XP_016856826.1:p.Val127TrpfsTer16
XM_024447244.1:c.379del XP_024303012.1:p.Val127TrpfsTer16
XM_024447245.1:c.379del XP_024303013.1:p.Val127TrpfsTer16
XM_024447248.1:c.337del XP_024303016.1:p.Val113TrpfsTer16
XM_024447249.1:c.208del XP_024303017.1:p.Val70TrpfsTer16
XM_024447250.1:c.208del XP_024303018.1:p.Val70TrpfsTer16
XM_024447251.1:c.208del XP_024303019.1:p.Val70TrpfsTer16
XR_001737190.1:n.769del
XR_001737192.1:n.581del
XR_002956643.1:n.761del
XR_002956644.1:n.1296del
XR_946658.2:n.869del
NM_001048171.2:c.724del NP_001041636.2:p.Val242TrpfsTer16
NM_001128425.2:c.808del MANE Plus Clinical NP_001121897.1:p.Val270TrpfsTer16
NM_001048172.2:c.727del NP_001041637.1:p.Val243TrpfsTer16
NM_001048173.2:c.724del NP_001041638.1:p.Val242TrpfsTer16
NM_001048174.2:c.724del MANE Select NP_001041639.1:p.Val242TrpfsTer16
NM_001293190.2:c.769del NP_001280119.1:p.Val257TrpfsTer16
NM_001293191.2:c.757del NP_001280120.1:p.Val253TrpfsTer16
NM_001293192.2:c.448del NP_001280121.1:p.Val150TrpfsTer16
NM_001293195.2:c.724del NP_001280124.1:p.Val242TrpfsTer16
NM_001293196.2:c.448del NP_001280125.1:p.Val150TrpfsTer16
NM_001350650.2:c.379del NP_001337579.1:p.Val127TrpfsTer16
NM_001350651.2:c.379del NP_001337580.1:p.Val127TrpfsTer16
NM_012222.3:c.799del NP_036354.1:p.Val267TrpfsTer16
NR_146882.2:n.952del
NR_146883.2:n.801del