Canonical Allele Identifier: CA915941271
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 640844
ClinVar RCV Id: RCV000793953
dbSNP Id: rs1570400946

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332225_45332233del , CM000663.2:g.45332225_45332233del GRCh38
NC_000001.10:g.45797897_45797905del , CM000663.1:g.45797897_45797905del GRCh37
NC_000001.9:g.45570484_45570492del NCBI36
NG_008189.1:g.13238_13246del , LRG_220:g.13238_13246del

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.398_406del ENSP00000410263.2:p.Val133_Pro136delinsAl...
ENST00000435155.2:c.815_823del ENSP00000403655.2:p.Val272_Pro275delinsAl...
ENST00000467459.6:c.782_790del ENSP00000435889.2:p.Val261_Pro264delinsAl...
ENST00000483127.2:c.800_808del ENSP00000436469.2:p.Val267_Pro270delinsAl...
ENST00000485271.6:c.782_790del ENSP00000431264.2:p.Val261_Pro264delinsAl...
ENST00000529892.6:c.824_832del ENSP00000432528.2:p.Val275_Pro278delinsAl...
ENST00000533178.6:c.*111_*119del ENSP00000436430.2:n.*111_*119del
ENST00000672314.2:c.782_790del ENSP00000500828.2:p.Val261_Pro264delinsAl...
ENST00000674679.2:c.*694_*702del ENSP00000501623.2:n.*694_*702del
ENST00000710952.2:c.866_874del MANE Plus Clinical ENSP00000518552.2:p.Val289_Pro292delinsAl...
ENST00000672818.3:c.857_865del ENSP00000500891.1:p.Val286_Pro289delinsAl...
ENST00000450313.6:c.*111_*119del ENSP00000408176.2:n.*111_*119del
ENST00000456914.7:c.782_790del MANE Select ENSP00000407590.2:p.Val261_Pro264delinsAl...
ENST00000461495.6:c.*521_*529del ENSP00000437166.1:n.*521_*529del
ENST00000671898.1:c.1370_1378del ENSP00000499896.1:p.Val457_Pro460delinsAl...
ENST00000672011.1:c.*111_*119del ENSP00000500418.1:n.*111_*119del
ENST00000672314.1:c.782_790del ENSP00000500828.1:p.Val261_Pro264delinsAl...
ENST00000672593.1:c.*835_*843del ENSP00000500455.1:n.*835_*843del
ENST00000672764.1:c.*111_*119del ENSP00000500886.1:n.*111_*119del
ENST00000672818.2:c.857_865del ENSP00000500891.1:p.Val286_Pro289delinsAl...
ENST00000673134.1:c.*479_*487del ENSP00000500526.1:n.*479_*487del
ENST00000674679.1:c.810_818del ENSP00000501623.1:n.810_818del
ENST00000354383.10:c.785_793del ENSP00000346354.6:p.Val262_Pro265delinsAl...
ENST00000355498.6:c.782_790del ENSP00000347685.2:p.Val261_Pro264delinsAl...
ENST00000372098.7:c.857_865del ENSP00000361170.3:p.Val286_Pro289delinsAl...
ENST00000372104.5:c.782_790del ENSP00000361176.1:p.Val261_Pro264delinsAl...
ENST00000372110.7:c.827_835del ENSP00000361182.3:p.Val276_Pro279delinsAl...
ENST00000372115.7:c.824_832del ENSP00000361187.3:p.Val275_Pro278delinsAl...
ENST00000412971.5:c.398_406del ENSP00000410263.1:p.Val133_Pro136delinsAl...
ENST00000435155.1:c.815_823del ENSP00000403655.1:p.Val272_Pro275delinsAl...
ENST00000448481.5:c.815_823del ENSP00000409718.1:p.Val272_Pro275delinsAl...
ENST00000450313.5:c.866_874del ENSP00000408176.1:p.Val289_Pro292delinsAl...
ENST00000456914.6:c.782_790del ENSP00000407590.2:p.Val261_Pro264delinsAl...
ENST00000461495.5:c.*521_*529del ENSP00000437166.1:n.*521_*529del
ENST00000462388.5:n.473_481del
ENST00000466231.1:n.147_155del
ENST00000467459.5:c.176_184del ENSP00000435889.1:p.Val59_Pro62delinsAla
ENST00000467940.5:c.*705_*713del ENSP00000436478.1:n.*705_*713del
ENST00000470256.5:c.*111_*119del ENSP00000434985.1:n.*111_*119del
ENST00000475516.5:c.*595_*603del ENSP00000433843.1:n.*595_*603del
ENST00000478796.5:n.769_777del
ENST00000481571.5:c.*595_*603del ENSP00000436597.1:n.*595_*603del
ENST00000488731.6:c.187+530_187+538del ENSP00000432330.1:n.187+530_187+538del
ENST00000528013.6:c.824_832del ENSP00000433130.2:p.Val275_Pro278delinsAl...
ENST00000529892.5:c.46_54del
ENST00000529984.5:c.187+530_187+538del ENSP00000437093.1:n.187+530_187+538del
ENST00000531105.5:c.115+2158_115+2166del ENSP00000431292.1:n.115+2158_115+2166del
ENST00000533178.5:c.411_419del ENSP00000436430.1:n.411_419del
NM_001048171.1:c.824_832del NP_001041636.1:p.Val275_Pro278delinsAla
NM_001048172.1:c.785_793del NP_001041637.1:p.Val262_Pro265delinsAla
NM_001048173.1:c.782_790del NP_001041638.1:p.Val261_Pro264delinsAla
NM_001048174.1:c.782_790del NP_001041639.1:p.Val261_Pro264delinsAla
NM_001128425.1:c.866_874del , LRG_220t1:c.866_874del NP_001121897.1:p.Val289_Pro292delinsAla
NM_001293190.1:c.827_835del NP_001280119.1:p.Val276_Pro279delinsAla
NM_001293191.1:c.815_823del NP_001280120.1:p.Val272_Pro275delinsAla
NM_001293192.1:c.506_514del NP_001280121.1:p.Val169_Pro172delinsAla
NM_001293195.1:c.782_790del NP_001280124.1:p.Val261_Pro264delinsAla
NM_001293196.1:c.506_514del NP_001280125.1:p.Val169_Pro172delinsAla
NM_012222.2:c.857_865del NP_036354.1:p.Val286_Pro289delinsAla
XM_011541497.1:c.842_850del XP_011539799.1:p.Val281_Pro284delinsAla
XM_011541498.1:c.824_832del XP_011539800.1:p.Val275_Pro278delinsAla
XM_011541499.1:c.824_832del XP_011539801.1:p.Val275_Pro278delinsAla
XM_011541500.1:c.824_832del XP_011539802.1:p.Val275_Pro278delinsAla
XM_011541501.1:c.824_832del XP_011539803.1:p.Val275_Pro278delinsAla
XM_011541502.1:c.824_832del XP_011539804.1:p.Val275_Pro278delinsAla
XM_011541503.1:c.824_832del XP_011539805.1:p.Val275_Pro278delinsAla
XM_011541504.1:c.815_823del XP_011539806.1:p.Val272_Pro275delinsAla
XM_011541505.1:c.404_412del XP_011539807.1:p.Val135_Pro138delinsAla
XM_011541506.1:c.404_412del XP_011539808.1:p.Val135_Pro138delinsAla
XM_011541507.1:c.395_403del XP_011539809.1:p.Val132_Pro135delinsAla
XM_011541508.1:c.410_418del XP_011539810.1:p.Val137_Pro140delinsAla
XR_946658.1:n.913_921del
NM_001350650.1:c.437_445del NP_001337579.1:p.Val146_Pro149delinsAla
NM_001350651.1:c.437_445del NP_001337580.1:p.Val146_Pro149delinsAla
NR_146882.1:n.1040_1048del
NR_146883.1:n.854_862del
XM_011541497.3:c.842_850del XP_011539799.1:p.Val281_Pro284delinsAla
XM_011541500.3:c.824_832del XP_011539802.1:p.Val275_Pro278delinsAla
XM_011541501.2:c.824_832del XP_011539803.1:p.Val275_Pro278delinsAla
XM_011541502.2:c.824_832del XP_011539804.1:p.Val275_Pro278delinsAla
XM_011541503.2:c.824_832del XP_011539805.1:p.Val275_Pro278delinsAla
XM_011541504.2:c.815_823del XP_011539806.1:p.Val272_Pro275delinsAla
XM_011541505.2:c.404_412del XP_011539807.1:p.Val135_Pro138delinsAla
XM_011541506.2:c.404_412del XP_011539808.1:p.Val135_Pro138delinsAla
XM_017001331.1:c.824_832del XP_016856820.1:p.Val275_Pro278delinsAla
XM_017001332.1:c.824_832del XP_016856821.1:p.Val275_Pro278delinsAla
XM_017001333.1:c.824_832del XP_016856822.1:p.Val275_Pro278delinsAla
XM_017001334.1:c.785_793del XP_016856823.1:p.Val262_Pro265delinsAla
XM_017001335.1:c.506_514del XP_016856824.1:p.Val169_Pro172delinsAla
XM_017001336.1:c.437_445del XP_016856825.1:p.Val146_Pro149delinsAla
XM_017001337.1:c.437_445del XP_016856826.1:p.Val146_Pro149delinsAla
XM_024447244.1:c.437_445del XP_024303012.1:p.Val146_Pro149delinsAla
XM_024447245.1:c.437_445del XP_024303013.1:p.Val146_Pro149delinsAla
XM_024447248.1:c.395_403del XP_024303016.1:p.Val132_Pro135delinsAla
XM_024447249.1:c.266_274del XP_024303017.1:p.Val89_Pro92delinsAla
XM_024447250.1:c.266_274del XP_024303018.1:p.Val89_Pro92delinsAla
XM_024447251.1:c.266_274del XP_024303019.1:p.Val89_Pro92delinsAla
XR_001737190.1:n.827_835del
XR_001737192.1:n.639_647del
XR_002956643.1:n.819_827del
XR_002956644.1:n.1354_1362del
XR_946658.2:n.927_935del
NM_001048171.2:c.782_790del NP_001041636.2:p.Val261_Pro264delinsAla
NM_001128425.2:c.866_874del MANE Plus Clinical NP_001121897.1:p.Val289_Pro292delinsAla
NM_001048172.2:c.785_793del NP_001041637.1:p.Val262_Pro265delinsAla
NM_001048173.2:c.782_790del NP_001041638.1:p.Val261_Pro264delinsAla
NM_001048174.2:c.782_790del MANE Select NP_001041639.1:p.Val261_Pro264delinsAla
NM_001293190.2:c.827_835del NP_001280119.1:p.Val276_Pro279delinsAla
NM_001293191.2:c.815_823del NP_001280120.1:p.Val272_Pro275delinsAla
NM_001293192.2:c.506_514del NP_001280121.1:p.Val169_Pro172delinsAla
NM_001293195.2:c.782_790del NP_001280124.1:p.Val261_Pro264delinsAla
NM_001293196.2:c.506_514del NP_001280125.1:p.Val169_Pro172delinsAla
NM_001350650.2:c.437_445del NP_001337579.1:p.Val146_Pro149delinsAla
NM_001350651.2:c.437_445del NP_001337580.1:p.Val146_Pro149delinsAla
NM_012222.3:c.857_865del NP_036354.1:p.Val286_Pro289delinsAla
NR_146882.2:n.1010_1018del
NR_146883.2:n.859_867del