Canonical Allele Identifier: CA2991011065
Gene: MUTYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332220_45332221insCCACTGTGCAGCCAGTGCCC , CM000663.2:g.45332220_45332221insCCACTGTGCAGCCAGTGCCC GRCh38
NC_000001.10:g.45797892_45797893insCCACTGTGCAGCCAGTGCCC , CM000663.1:g.45797892_45797893insCCACTGTGCAGCCAGTGCCC GRCh37
NC_000001.9:g.45570479_45570480insCCACTGTGCAGCCAGTGCCC NCBI36
NG_008189.1:g.13251_13252insGGCACTGGCTGCACAGTGGG , LRG_220:g.13251_13252insGGCACTGGCTGCACAGTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.411_412insGGCACTGGCTGCACAGTGGG ENSP00000410263.2:p.Arg138GlyfsTer32
ENST00000435155.2:c.828_829insGGCACTGGCTGCACAGTGGG ENSP00000403655.2:p.Arg277GlyfsTer32
ENST00000467459.6:c.795_796insGGCACTGGCTGCACAGTGGG ENSP00000435889.2:p.Arg266GlyfsTer32
ENST00000483127.2:c.813_814insGGCACTGGCTGCACAGTGGG ENSP00000436469.2:p.Arg272GlyfsTer32
ENST00000485271.6:c.795_796insGGCACTGGCTGCACAGTGGG ENSP00000431264.2:p.Arg266GlyfsTer32
ENST00000529892.6:c.837_838insGGCACTGGCTGCACAGTGGG ENSP00000432528.2:p.Arg280GlyfsTer32
ENST00000533178.6:c.*124_*125insGGCACTGGCTGCACAGTGGG ENSP00000436430.2:n.*124_*125insGGCACTGGCTGCACAGTGGG
ENST00000672314.2:c.795_796insGGCACTGGCTGCACAGTGGG ENSP00000500828.2:p.Arg266GlyfsTer32
ENST00000674679.2:c.*707_*708insGGCACTGGCTGCACAGTGGG ENSP00000501623.2:n.*707_*708insGGCACTGGCTGCACAGTGGG
ENST00000710952.2:c.879_880insGGCACTGGCTGCACAGTGGG MANE Plus Clinical ENSP00000518552.2:p.Arg294GlyfsTer32
ENST00000672818.3:c.870_871insGGCACTGGCTGCACAGTGGG ENSP00000500891.1:p.Arg291GlyfsTer32
ENST00000450313.6:c.*124_*125insGGCACTGGCTGCACAGTGGG ENSP00000408176.2:n.*124_*125insGGCACTGGCTGCACAGTGGG
ENST00000456914.7:c.795_796insGGCACTGGCTGCACAGTGGG MANE Select ENSP00000407590.2:p.Arg266GlyfsTer32
ENST00000461495.6:c.*534_*535insGGCACTGGCTGCACAGTGGG ENSP00000437166.1:n.*534_*535insGGCACTGGCTGCACAGTGGG
ENST00000671898.1:c.1383_1384insGGCACTGGCTGCACAGTGGG ENSP00000499896.1:p.Arg462GlyfsTer32
ENST00000672011.1:c.*124_*125insGGCACTGGCTGCACAGTGGG ENSP00000500418.1:n.*124_*125insGGCACTGGCTGCACAGTGGG
ENST00000672314.1:c.795_796insGGCACTGGCTGCACAGTGGG ENSP00000500828.1:p.Arg266GlyfsTer32
ENST00000672593.1:c.*848_*849insGGCACTGGCTGCACAGTGGG ENSP00000500455.1:n.*848_*849insGGCACTGGCTGCACAGTGGG
ENST00000672764.1:c.*124_*125insGGCACTGGCTGCACAGTGGG ENSP00000500886.1:n.*124_*125insGGCACTGGCTGCACAGTGGG
ENST00000672818.2:c.870_871insGGCACTGGCTGCACAGTGGG ENSP00000500891.1:p.Arg291GlyfsTer32
ENST00000673134.1:c.*492_*493insGGCACTGGCTGCACAGTGGG ENSP00000500526.1:n.*492_*493insGGCACTGGCTGCACAGTGGG
ENST00000674679.1:c.823_824insGGCACTGGCTGCACAGTGGG ENSP00000501623.1:n.823_824insGGCACTGGCTGCACAGTGGG
ENST00000354383.10:c.798_799insGGCACTGGCTGCACAGTGGG ENSP00000346354.6:p.Arg267GlyfsTer32
ENST00000355498.6:c.795_796insGGCACTGGCTGCACAGTGGG ENSP00000347685.2:p.Arg266GlyfsTer32
ENST00000372098.7:c.870_871insGGCACTGGCTGCACAGTGGG ENSP00000361170.3:p.Arg291GlyfsTer32
ENST00000372104.5:c.795_796insGGCACTGGCTGCACAGTGGG ENSP00000361176.1:p.Arg266GlyfsTer32
ENST00000372110.7:c.840_841insGGCACTGGCTGCACAGTGGG ENSP00000361182.3:p.Arg281GlyfsTer32
ENST00000372115.7:c.837_838insGGCACTGGCTGCACAGTGGG ENSP00000361187.3:p.Arg280GlyfsTer32
ENST00000412971.5:c.411_412insGGCACTGGCTGCACAGTGGG ENSP00000410263.1:p.Arg138GlyfsTer32
ENST00000435155.1:c.828_829insGGCACTGGCTGCACAGTGGG ENSP00000403655.1:p.Arg277GlyfsTer?
ENST00000448481.5:c.828_829insGGCACTGGCTGCACAGTGGG ENSP00000409718.1:p.Arg277GlyfsTer32
ENST00000450313.5:c.879_880insGGCACTGGCTGCACAGTGGG ENSP00000408176.1:p.Arg294GlyfsTer32
ENST00000456914.6:c.795_796insGGCACTGGCTGCACAGTGGG ENSP00000407590.2:p.Arg266GlyfsTer32
ENST00000461495.5:c.*534_*535insGGCACTGGCTGCACAGTGGG ENSP00000437166.1:n.*534_*535insGGCACTGGCTGCACAGTGGG
ENST00000462388.5:n.486_487insGGCACTGGCTGCACAGTGGG
ENST00000466231.1:n.160_161insGGCACTGGCTGCACAGTGGG
ENST00000467459.5:c.189_190insGGCACTGGCTGCACAGTGGG ENSP00000435889.1:p.Arg64GlyfsTer32
ENST00000470256.5:c.*124_*125insGGCACTGGCTGCACAGTGGG ENSP00000434985.1:n.*124_*125insGGCACTGGCTGCACAGTGGG
ENST00000475516.5:c.*608_*609insGGCACTGGCTGCACAGTGGG ENSP00000433843.1:n.*608_*609insGGCACTGGCTGCACAGTGGG
ENST00000481571.5:c.*608_*609insGGCACTGGCTGCACAGTGGG ENSP00000436597.1:n.*608_*609insGGCACTGGCTGCACAGTGGG
ENST00000488731.6:c.187+543_187+544insGGCACTGGCTGCACAGTGGG ENSP00000432330.1:n.187+543_187+544insGGCACTGGCTGCACAGTGGG
ENST00000528013.6:c.837_838insGGCACTGGCTGCACAGTGGG ENSP00000433130.2:p.Arg280GlyfsTer32
ENST00000529892.5:c.59_60insGGCACTGGCTGCACAGTGGG
ENST00000529984.5:c.187+543_187+544insGGCACTGGCTGCACAGTGGG ENSP00000437093.1:n.187+543_187+544insGGCACTGGCTGCACAGTGGG
ENST00000531105.5:c.115+2171_115+2172insGGCACTGGCTGCACAGTGGG ENSP00000431292.1:n.115+2171_115+2172insGGCACTGGCTGCACAGTGGG
ENST00000533178.5:c.424_425insGGCACTGGCTGCACAGTGGG ENSP00000436430.1:n.424_425insGGCACTGGCTGCACAGTGGG
NM_001048171.1:c.837_838insGGCACTGGCTGCACAGTGGG NP_001041636.1:p.Arg280GlyfsTer32
NM_001048172.1:c.798_799insGGCACTGGCTGCACAGTGGG NP_001041637.1:p.Arg267GlyfsTer32
NM_001048173.1:c.795_796insGGCACTGGCTGCACAGTGGG NP_001041638.1:p.Arg266GlyfsTer32
NM_001048174.1:c.795_796insGGCACTGGCTGCACAGTGGG NP_001041639.1:p.Arg266GlyfsTer32
NM_001128425.1:c.879_880insGGCACTGGCTGCACAGTGGG , LRG_220t1:c.879_880insGGCACTGGCTGCACAGTGGG NP_001121897.1:p.Arg294GlyfsTer32
NM_001293190.1:c.840_841insGGCACTGGCTGCACAGTGGG NP_001280119.1:p.Arg281GlyfsTer32
NM_001293191.1:c.828_829insGGCACTGGCTGCACAGTGGG NP_001280120.1:p.Arg277GlyfsTer32
NM_001293192.1:c.519_520insGGCACTGGCTGCACAGTGGG NP_001280121.1:p.Arg174GlyfsTer32
NM_001293195.1:c.795_796insGGCACTGGCTGCACAGTGGG NP_001280124.1:p.Arg266GlyfsTer32
NM_001293196.1:c.519_520insGGCACTGGCTGCACAGTGGG NP_001280125.1:p.Arg174GlyfsTer32
NM_012222.2:c.870_871insGGCACTGGCTGCACAGTGGG NP_036354.1:p.Arg291GlyfsTer32
XM_011541497.1:c.855_856insGGCACTGGCTGCACAGTGGG XP_011539799.1:p.Arg286GlyfsTer32
XM_011541498.1:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539800.1:p.Arg280GlyfsTer32
XM_011541499.1:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539801.1:p.Arg280GlyfsTer32
XM_011541500.1:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539802.1:p.Arg280GlyfsTer32
XM_011541501.1:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539803.1:p.Arg280GlyfsTer32
XM_011541502.1:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539804.1:p.Arg280GlyfsTer32
XM_011541503.1:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539805.1:p.Arg280GlyfsTer32
XM_011541504.1:c.828_829insGGCACTGGCTGCACAGTGGG XP_011539806.1:p.Arg277GlyfsTer32
XM_011541505.1:c.417_418insGGCACTGGCTGCACAGTGGG XP_011539807.1:p.Arg140GlyfsTer32
XM_011541506.1:c.417_418insGGCACTGGCTGCACAGTGGG XP_011539808.1:p.Arg140GlyfsTer32
XM_011541507.1:c.408_409insGGCACTGGCTGCACAGTGGG XP_011539809.1:p.Arg137GlyfsTer32
XM_011541508.1:c.423_424insGGCACTGGCTGCACAGTGGG XP_011539810.1:p.Arg142GlyfsTer32
XR_946658.1:n.926_927insGGCACTGGCTGCACAGTGGG
NM_001350650.1:c.450_451insGGCACTGGCTGCACAGTGGG NP_001337579.1:p.Arg151GlyfsTer32
NM_001350651.1:c.450_451insGGCACTGGCTGCACAGTGGG NP_001337580.1:p.Arg151GlyfsTer32
NR_146882.1:n.1053_1054insGGCACTGGCTGCACAGTGGG
NR_146883.1:n.867_868insGGCACTGGCTGCACAGTGGG
XM_011541497.3:c.855_856insGGCACTGGCTGCACAGTGGG XP_011539799.1:p.Arg286GlyfsTer32
XM_011541500.3:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539802.1:p.Arg280GlyfsTer32
XM_011541501.2:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539803.1:p.Arg280GlyfsTer32
XM_011541502.2:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539804.1:p.Arg280GlyfsTer32
XM_011541503.2:c.837_838insGGCACTGGCTGCACAGTGGG XP_011539805.1:p.Arg280GlyfsTer32
XM_011541504.2:c.828_829insGGCACTGGCTGCACAGTGGG XP_011539806.1:p.Arg277GlyfsTer32
XM_011541505.2:c.417_418insGGCACTGGCTGCACAGTGGG XP_011539807.1:p.Arg140GlyfsTer32
XM_011541506.2:c.417_418insGGCACTGGCTGCACAGTGGG XP_011539808.1:p.Arg140GlyfsTer32
XM_017001331.1:c.837_838insGGCACTGGCTGCACAGTGGG XP_016856820.1:p.Arg280GlyfsTer32
XM_017001332.1:c.837_838insGGCACTGGCTGCACAGTGGG XP_016856821.1:p.Arg280GlyfsTer32
XM_017001333.1:c.837_838insGGCACTGGCTGCACAGTGGG XP_016856822.1:p.Arg280GlyfsTer32
XM_017001334.1:c.798_799insGGCACTGGCTGCACAGTGGG XP_016856823.1:p.Arg267GlyfsTer32
XM_017001335.1:c.519_520insGGCACTGGCTGCACAGTGGG XP_016856824.1:p.Arg174GlyfsTer32
XM_017001336.1:c.450_451insGGCACTGGCTGCACAGTGGG XP_016856825.1:p.Arg151GlyfsTer32
XM_017001337.1:c.450_451insGGCACTGGCTGCACAGTGGG XP_016856826.1:p.Arg151GlyfsTer32
XM_024447244.1:c.450_451insGGCACTGGCTGCACAGTGGG XP_024303012.1:p.Arg151GlyfsTer32
XM_024447245.1:c.450_451insGGCACTGGCTGCACAGTGGG XP_024303013.1:p.Arg151GlyfsTer32
XM_024447248.1:c.408_409insGGCACTGGCTGCACAGTGGG XP_024303016.1:p.Arg137GlyfsTer32
XM_024447249.1:c.279_280insGGCACTGGCTGCACAGTGGG XP_024303017.1:p.Arg94GlyfsTer32
XM_024447250.1:c.279_280insGGCACTGGCTGCACAGTGGG XP_024303018.1:p.Arg94GlyfsTer32
XM_024447251.1:c.279_280insGGCACTGGCTGCACAGTGGG XP_024303019.1:p.Arg94GlyfsTer32
XR_001737190.1:n.840_841insGGCACTGGCTGCACAGTGGG
XR_001737192.1:n.652_653insGGCACTGGCTGCACAGTGGG
XR_002956643.1:n.832_833insGGCACTGGCTGCACAGTGGG
XR_002956644.1:n.1367_1368insGGCACTGGCTGCACAGTGGG
XR_946658.2:n.940_941insGGCACTGGCTGCACAGTGGG
NM_001048171.2:c.795_796insGGCACTGGCTGCACAGTGGG NP_001041636.2:p.Arg266GlyfsTer32
NM_001128425.2:c.879_880insGGCACTGGCTGCACAGTGGG MANE Plus Clinical NP_001121897.1:p.Arg294GlyfsTer32
NM_001048172.2:c.798_799insGGCACTGGCTGCACAGTGGG NP_001041637.1:p.Arg267GlyfsTer32
NM_001048173.2:c.795_796insGGCACTGGCTGCACAGTGGG NP_001041638.1:p.Arg266GlyfsTer32
NM_001048174.2:c.795_796insGGCACTGGCTGCACAGTGGG MANE Select NP_001041639.1:p.Arg266GlyfsTer32
NM_001293190.2:c.840_841insGGCACTGGCTGCACAGTGGG NP_001280119.1:p.Arg281GlyfsTer32
NM_001293191.2:c.828_829insGGCACTGGCTGCACAGTGGG NP_001280120.1:p.Arg277GlyfsTer32
NM_001293192.2:c.519_520insGGCACTGGCTGCACAGTGGG NP_001280121.1:p.Arg174GlyfsTer32
NM_001293195.2:c.795_796insGGCACTGGCTGCACAGTGGG NP_001280124.1:p.Arg266GlyfsTer32
NM_001293196.2:c.519_520insGGCACTGGCTGCACAGTGGG NP_001280125.1:p.Arg174GlyfsTer32
NM_001350650.2:c.450_451insGGCACTGGCTGCACAGTGGG NP_001337579.1:p.Arg151GlyfsTer32
NM_001350651.2:c.450_451insGGCACTGGCTGCACAGTGGG NP_001337580.1:p.Arg151GlyfsTer32
NM_012222.3:c.870_871insGGCACTGGCTGCACAGTGGG NP_036354.1:p.Arg291GlyfsTer32
NR_146882.2:n.1023_1024insGGCACTGGCTGCACAGTGGG
NR_146883.2:n.872_873insGGCACTGGCTGCACAGTGGG