Canonical Allele Identifier: CA1139655518
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 939943
ClinVar RCV Id: RCV001209428
dbSNP Id: rs1645020416

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332185_45332202dup , CM000663.2:g.45332185_45332202dup GRCh38
NC_000001.10:g.45797857_45797874dup , CM000663.1:g.45797857_45797874dup GRCh37
NC_000001.9:g.45570444_45570461dup NCBI36
NG_008189.1:g.13274_13291dup , LRG_220:g.13274_13291dup

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.434_451dup ENSP00000410263.2:p.Cys150_Arg151insProVa...
ENST00000435155.2:c.851_868dup ENSP00000403655.2:p.Cys289_Arg290insProVa...
ENST00000467459.6:c.818_835dup ENSP00000435889.2:p.Cys278_Arg279insProVa...
ENST00000483127.2:c.836_853dup ENSP00000436469.2:p.Cys284_Arg285insProVa...
ENST00000485271.6:c.818_835dup ENSP00000431264.2:p.Cys278_Arg279insProVa...
ENST00000529892.6:c.860_877dup ENSP00000432528.2:p.Cys292_Arg293insProVa...
ENST00000533178.6:c.*147_*164dup ENSP00000436430.2:n.*147_*164dup
ENST00000672314.2:c.818_835dup ENSP00000500828.2:p.Cys278_Arg279insProVa...
ENST00000710952.2:c.902_919dup MANE Plus Clinical ENSP00000518552.2:p.Cys306_Arg307insProVa...
ENST00000672818.3:c.893_910dup ENSP00000500891.1:p.Cys303_Arg304insProVa...
ENST00000456914.7:c.818_835dup MANE Select ENSP00000407590.2:p.Cys278_Arg279insProVa...
ENST00000461495.6:c.*557_*574dup ENSP00000437166.1:n.*557_*574dup
ENST00000671898.1:c.1406_1423dup ENSP00000499896.1:p.Cys474_Arg475insProVa...
ENST00000672011.1:c.*147_*164dup ENSP00000500418.1:n.*147_*164dup
ENST00000672314.1:c.818_835dup ENSP00000500828.1:p.Cys278_Arg279insProVa...
ENST00000672593.1:c.*871_*888dup ENSP00000500455.1:n.*871_*888dup
ENST00000672764.1:c.*147_*164dup ENSP00000500886.1:n.*147_*164dup
ENST00000672818.2:c.893_910dup ENSP00000500891.1:p.Cys303_Arg304insProVa...
ENST00000673134.1:c.*515_*532dup ENSP00000500526.1:n.*515_*532dup
ENST00000354383.10:c.821_838dup ENSP00000346354.6:p.Cys279_Arg280insProVa...
ENST00000355498.6:c.818_835dup ENSP00000347685.2:p.Cys278_Arg279insProVa...
ENST00000372098.7:c.893_910dup ENSP00000361170.3:p.Cys303_Arg304insProVa...
ENST00000372104.5:c.818_835dup ENSP00000361176.1:p.Cys278_Arg279insProVa...
ENST00000372110.7:c.863_880dup ENSP00000361182.3:p.Cys293_Arg294insProVa...
ENST00000372115.7:c.860_877dup ENSP00000361187.3:p.Cys292_Arg293insProVa...
ENST00000412971.5:c.434_451dup ENSP00000410263.1:p.Cys150_Arg151insProVa...
ENST00000435155.1:c.851_868dup ENSP00000403655.1:p.Cys289_Arg290insProVa...
ENST00000448481.5:c.851_868dup ENSP00000409718.1:p.Cys289_Arg290insProVa...
ENST00000450313.5:c.902_919dup ENSP00000408176.1:p.Cys306_Arg307insProVa...
ENST00000456914.6:c.818_835dup ENSP00000407590.2:p.Cys278_Arg279insProVa...
ENST00000461495.5:c.*557_*574dup ENSP00000437166.1:n.*557_*574dup
ENST00000462388.5:n.509_526dup
ENST00000466231.1:n.183_200dup
ENST00000467459.5:c.212_229dup ENSP00000435889.1:p.Cys76_Arg77insProValG...
ENST00000470256.5:c.*147_*164dup ENSP00000434985.1:n.*147_*164dup
ENST00000475516.5:c.*631_*648dup ENSP00000433843.1:n.*631_*648dup
ENST00000481571.5:c.*631_*648dup ENSP00000436597.1:n.*631_*648dup
ENST00000488731.6:c.187+566_187+583dup ENSP00000432330.1:n.187+566_187+583dup
ENST00000528013.6:c.860_877dup ENSP00000433130.2:p.Cys292_Arg293insProVa...
ENST00000529892.5:c.82_99dup
ENST00000529984.5:c.187+566_187+583dup ENSP00000437093.1:n.187+566_187+583dup
ENST00000531105.5:c.115+2194_115+2211dup ENSP00000431292.1:n.115+2194_115+2211dup
ENST00000533178.5:c.447_464dup ENSP00000436430.1:n.447_464dup
NM_001048171.1:c.860_877dup NP_001041636.1:p.Cys292_Arg293insProValGl...
NM_001048172.1:c.821_838dup NP_001041637.1:p.Cys279_Arg280insProValGl...
NM_001048173.1:c.818_835dup NP_001041638.1:p.Cys278_Arg279insProValGl...
NM_001048174.1:c.818_835dup NP_001041639.1:p.Cys278_Arg279insProValGl...
NM_001128425.1:c.902_919dup , LRG_220t1:c.902_919dup NP_001121897.1:p.Cys306_Arg307insProValGl...
NM_001293190.1:c.863_880dup NP_001280119.1:p.Cys293_Arg294insProValGl...
NM_001293191.1:c.851_868dup NP_001280120.1:p.Cys289_Arg290insProValGl...
NM_001293192.1:c.542_559dup NP_001280121.1:p.Cys186_Arg187insProValGl...
NM_001293195.1:c.818_835dup NP_001280124.1:p.Cys278_Arg279insProValGl...
NM_001293196.1:c.542_559dup NP_001280125.1:p.Cys186_Arg187insProValGl...
NM_012222.2:c.893_910dup NP_036354.1:p.Cys303_Arg304insProValGluSe...
XM_011541497.1:c.878_895dup XP_011539799.1:p.Cys298_Arg299insProValGl...
XM_011541498.1:c.860_877dup XP_011539800.1:p.Cys292_Arg293insProValGl...
XM_011541499.1:c.860_877dup XP_011539801.1:p.Cys292_Arg293insProValGl...
XM_011541500.1:c.860_877dup XP_011539802.1:p.Cys292_Arg293insProValGl...
XM_011541501.1:c.860_877dup XP_011539803.1:p.Cys292_Arg293insProValGl...
XM_011541502.1:c.860_877dup XP_011539804.1:p.Cys292_Arg293insProValGl...
XM_011541503.1:c.860_877dup XP_011539805.1:p.Cys292_Arg293insProValGl...
XM_011541504.1:c.851_868dup XP_011539806.1:p.Cys289_Arg290insProValGl...
XM_011541505.1:c.440_457dup XP_011539807.1:p.Cys152_Arg153insProValGl...
XM_011541506.1:c.440_457dup XP_011539808.1:p.Cys152_Arg153insProValGl...
XM_011541507.1:c.431_448dup XP_011539809.1:p.Cys149_Arg150insProValGl...
XM_011541508.1:c.446_463dup XP_011539810.1:p.Cys154_Arg155insProValGl...
XR_946658.1:n.949_966dup
NM_001350650.1:c.473_490dup NP_001337579.1:p.Cys163_Arg164insProValGl...
NM_001350651.1:c.473_490dup NP_001337580.1:p.Cys163_Arg164insProValGl...
NR_146882.1:n.1076_1093dup
NR_146883.1:n.890_907dup
XM_011541497.3:c.878_895dup XP_011539799.1:p.Cys298_Arg299insProValGl...
XM_011541500.3:c.860_877dup XP_011539802.1:p.Cys292_Arg293insProValGl...
XM_011541501.2:c.860_877dup XP_011539803.1:p.Cys292_Arg293insProValGl...
XM_011541502.2:c.860_877dup XP_011539804.1:p.Cys292_Arg293insProValGl...
XM_011541503.2:c.860_877dup XP_011539805.1:p.Cys292_Arg293insProValGl...
XM_011541504.2:c.851_868dup XP_011539806.1:p.Cys289_Arg290insProValGl...
XM_011541505.2:c.440_457dup XP_011539807.1:p.Cys152_Arg153insProValGl...
XM_011541506.2:c.440_457dup XP_011539808.1:p.Cys152_Arg153insProValGl...
XM_017001331.1:c.860_877dup XP_016856820.1:p.Cys292_Arg293insProValGl...
XM_017001332.1:c.860_877dup XP_016856821.1:p.Cys292_Arg293insProValGl...
XM_017001333.1:c.860_877dup XP_016856822.1:p.Cys292_Arg293insProValGl...
XM_017001334.1:c.821_838dup XP_016856823.1:p.Cys279_Arg280insProValGl...
XM_017001335.1:c.542_559dup XP_016856824.1:p.Cys186_Arg187insProValGl...
XM_017001336.1:c.473_490dup XP_016856825.1:p.Cys163_Arg164insProValGl...
XM_017001337.1:c.473_490dup XP_016856826.1:p.Cys163_Arg164insProValGl...
XM_024447244.1:c.473_490dup XP_024303012.1:p.Cys163_Arg164insProValGl...
XM_024447245.1:c.473_490dup XP_024303013.1:p.Cys163_Arg164insProValGl...
XM_024447248.1:c.431_448dup XP_024303016.1:p.Cys149_Arg150insProValGl...
XM_024447249.1:c.302_319dup XP_024303017.1:p.Cys106_Arg107insProValGl...
XM_024447250.1:c.302_319dup XP_024303018.1:p.Cys106_Arg107insProValGl...
XM_024447251.1:c.302_319dup XP_024303019.1:p.Cys106_Arg107insProValGl...
XR_001737190.1:n.863_880dup
XR_001737192.1:n.675_692dup
XR_002956643.1:n.855_872dup
XR_002956644.1:n.1390_1407dup
XR_946658.2:n.963_980dup
NM_001048171.2:c.818_835dup NP_001041636.2:p.Cys278_Arg279insProValGl...
NM_001128425.2:c.902_919dup MANE Plus Clinical NP_001121897.1:p.Cys306_Arg307insProValGl...
NM_001048172.2:c.821_838dup NP_001041637.1:p.Cys279_Arg280insProValGl...
NM_001048173.2:c.818_835dup NP_001041638.1:p.Cys278_Arg279insProValGl...
NM_001048174.2:c.818_835dup MANE Select NP_001041639.1:p.Cys278_Arg279insProValGl...
NM_001293190.2:c.863_880dup NP_001280119.1:p.Cys293_Arg294insProValGl...
NM_001293191.2:c.851_868dup NP_001280120.1:p.Cys289_Arg290insProValGl...
NM_001293192.2:c.542_559dup NP_001280121.1:p.Cys186_Arg187insProValGl...
NM_001293195.2:c.818_835dup NP_001280124.1:p.Cys278_Arg279insProValGl...
NM_001293196.2:c.542_559dup NP_001280125.1:p.Cys186_Arg187insProValGl...
NM_001350650.2:c.473_490dup NP_001337579.1:p.Cys163_Arg164insProValGl...
NM_001350651.2:c.473_490dup NP_001337580.1:p.Cys163_Arg164insProValGl...
NM_012222.3:c.893_910dup NP_036354.1:p.Cys303_Arg304insProValGluSe...
NR_146882.2:n.1046_1063dup
NR_146883.2:n.895_912dup