Canonical Allele Identifier: CA522810414
Gene: MUTYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331751del , CM000663.2:g.45331751del GRCh38
NC_000001.10:g.45797423del , CM000663.1:g.45797423del GRCh37
NC_000001.9:g.45570010del NCBI36
NG_008189.1:g.13725del , LRG_220:g.13725del

Transcript Alleles

HGVS Amino-acid Change
NM_001048174.2:c.1017del MANE Select NP_001041639.1:p.Arg340GlyfsTer?
ENST00000456914.7:c.1017del MANE Select ENSP00000407590.2:p.Arg340GlyfsTer?
NM_001128425.2:c.1101del MANE Plus Clinical NP_001121897.1:p.Arg368GlyfsTer?
ENST00000710952.2:c.1101del MANE Plus Clinical ENSP00000518552.2:p.Arg368GlyfsTer?
NM_001048171.1:c.1059del NP_001041636.1:p.Arg354GlyfsTer?
NM_001048171.2:c.1017del NP_001041636.2:p.Arg340GlyfsTer?
NM_001048172.1:c.1020del NP_001041637.1:p.Arg341GlyfsTer?
NM_001048172.2:c.1020del NP_001041637.1:p.Arg341GlyfsTer?
NM_001048173.1:c.1017del NP_001041638.1:p.Arg340GlyfsTer?
NM_001048173.2:c.1017del NP_001041638.1:p.Arg340GlyfsTer?
NM_001048174.1:c.1017del NP_001041639.1:p.Arg340GlyfsTer?
NM_001128425.1:c.1101del , LRG_220t1:c.1101del NP_001121897.1:p.Arg368GlyfsTer?
NM_001293190.1:c.1062del NP_001280119.1:p.Arg355GlyfsTer?
NM_001293190.2:c.1062del NP_001280119.1:p.Arg355GlyfsTer?
NM_001293191.1:c.1050del NP_001280120.1:p.Arg351GlyfsTer?
NM_001293191.2:c.1050del NP_001280120.1:p.Arg351GlyfsTer?
NM_001293192.1:c.741del NP_001280121.1:p.Arg248GlyfsTer?
NM_001293192.2:c.741del NP_001280121.1:p.Arg248GlyfsTer?
NM_001293195.1:c.1017del NP_001280124.1:p.Arg340GlyfsTer?
NM_001293195.2:c.1017del NP_001280124.1:p.Arg340GlyfsTer?
NM_001293196.1:c.741del NP_001280125.1:p.Arg248GlyfsTer?
NM_001293196.2:c.741del NP_001280125.1:p.Arg248GlyfsTer?
NM_001350650.1:c.672del NP_001337579.1:p.Arg225GlyfsTer?
NM_001350650.2:c.672del NP_001337579.1:p.Arg225GlyfsTer?
NM_001350651.1:c.672del NP_001337580.1:p.Arg225GlyfsTer?
NM_001350651.2:c.672del NP_001337580.1:p.Arg225GlyfsTer?
NM_012222.2:c.1092del NP_036354.1:p.Arg365GlyfsTer?
NM_012222.3:c.1092del NP_036354.1:p.Arg365GlyfsTer?
NR_146882.1:n.1275del
NR_146882.2:n.1245del
NR_146883.1:n.1089del
NR_146883.2:n.1094del
ENST00000354383.10:c.1020del ENSP00000346354.6:p.Arg341GlyfsTer?
ENST00000355498.6:c.1017del ENSP00000347685.2:p.Arg340GlyfsTer?
ENST00000372098.7:c.1092del ENSP00000361170.3:p.Arg365GlyfsTer?
ENST00000372104.5:c.1017del ENSP00000361176.1:p.Arg340GlyfsTer?
ENST00000372110.7:c.1062del ENSP00000361182.3:p.Arg355GlyfsTer?
ENST00000372115.7:c.1059del ENSP00000361187.3:p.Arg354GlyfsTer?
ENST00000412971.5:c.633del ENSP00000410263.1:p.Arg212GlyfsTer?
ENST00000412971.6:c.633del ENSP00000410263.2:p.Arg212GlyfsTer?
ENST00000435155.2:c.1050del ENSP00000403655.2:p.Arg351GlyfsTer?
ENST00000448481.5:c.1050del ENSP00000409718.1:p.Arg351GlyfsTer?
ENST00000450313.5:c.1101del ENSP00000408176.1:p.Arg368GlyfsTer?
ENST00000456914.6:c.1017del ENSP00000407590.2:p.Arg340GlyfsTer?
ENST00000467459.5:c.434del ENSP00000435889.1:p.Pro145GlnfsTer?
ENST00000467459.6:c.1040del ENSP00000435889.2:p.Pro347GlnfsTer?
ENST00000475516.5:c.*830del ENSP00000433843.1:n.*830del
ENST00000481571.5:c.*830del ENSP00000436597.1:n.*830del
ENST00000482094.5:n.338del
ENST00000483127.2:c.1035del ENSP00000436469.2:p.Arg346GlyfsTer?
ENST00000485271.6:c.1017del ENSP00000431264.2:p.Arg340GlyfsTer?
ENST00000488731.6:c.188-190del ENSP00000432330.1:n.188-190del
ENST00000528013.6:c.1059del ENSP00000433130.2:p.Arg354GlyfsTer?
ENST00000529892.5:c.178-190del
ENST00000529892.6:c.956-190del ENSP00000432528.2:n.956-190del
ENST00000529984.5:c.188-190del ENSP00000437093.1:n.188-190del
ENST00000531105.5:c.116-2309del ENSP00000431292.1:n.116-2309del
ENST00000533178.5:c.646del ENSP00000436430.1:n.646del
ENST00000533178.6:c.*346del ENSP00000436430.2:n.*346del
ENST00000671898.1:c.1605del ENSP00000499896.1:p.Arg536GlyfsTer?
ENST00000672011.1:c.*346del ENSP00000500418.1:n.*346del
ENST00000672314.1:c.1017del ENSP00000500828.1:p.Arg340GlyfsTer?
ENST00000672314.2:c.1017del ENSP00000500828.2:p.Arg340GlyfsTer?
ENST00000672593.1:c.*1243del ENSP00000500455.1:n.*1243del
ENST00000672764.1:c.*346del ENSP00000500886.1:n.*346del
ENST00000672818.2:c.1092del ENSP00000500891.1:p.Arg365GlyfsTer?
ENST00000672818.3:c.1092del ENSP00000500891.1:p.Arg365GlyfsTer?
ENST00000673134.1:c.*714del ENSP00000500526.1:n.*714del
XM_011541497.1:c.1077del XP_011539799.1:p.Arg360GlyfsTer?
XM_011541497.3:c.1077del XP_011539799.1:p.Arg360GlyfsTer?
XM_011541498.1:c.1059del XP_011539800.1:p.Arg354GlyfsTer?
XM_011541499.1:c.1059del XP_011539801.1:p.Arg354GlyfsTer?
XM_011541500.1:c.1059del XP_011539802.1:p.Arg354GlyfsTer?
XM_011541500.3:c.1059del XP_011539802.1:p.Arg354GlyfsTer?
XM_011541501.1:c.1059del XP_011539803.1:p.Arg354GlyfsTer?
XM_011541501.2:c.1059del XP_011539803.1:p.Arg354GlyfsTer?
XM_011541502.1:c.1059del XP_011539804.1:p.Arg354GlyfsTer?
XM_011541502.2:c.1059del XP_011539804.1:p.Arg354GlyfsTer?
XM_011541503.1:c.1059del XP_011539805.1:p.Arg354GlyfsTer?
XM_011541503.2:c.1059del XP_011539805.1:p.Arg354GlyfsTer?
XM_011541504.1:c.1050del XP_011539806.1:p.Arg351GlyfsTer?
XM_011541504.2:c.1050del XP_011539806.1:p.Arg351GlyfsTer?
XM_011541505.1:c.639del XP_011539807.1:p.Arg214GlyfsTer?
XM_011541505.2:c.639del XP_011539807.1:p.Arg214GlyfsTer?
XM_011541506.1:c.639del XP_011539808.1:p.Arg214GlyfsTer?
XM_011541506.2:c.639del XP_011539808.1:p.Arg214GlyfsTer?
XM_011541507.1:c.630del XP_011539809.1:p.Arg211GlyfsTer?
XM_011541508.1:c.645del XP_011539810.1:p.Arg216GlyfsTer?
XM_017001331.1:c.1059del XP_016856820.1:p.Arg354GlyfsTer?
XM_017001332.1:c.1059del XP_016856821.1:p.Arg354GlyfsTer?
XM_017001333.1:c.1059del XP_016856822.1:p.Arg354GlyfsTer?
XM_017001334.1:c.1020del XP_016856823.1:p.Arg341GlyfsTer?
XM_017001335.1:c.741del XP_016856824.1:p.Arg248GlyfsTer?
XM_017001336.1:c.672del XP_016856825.1:p.Arg225GlyfsTer?
XM_017001337.1:c.672del XP_016856826.1:p.Arg225GlyfsTer?
XM_024447244.1:c.672del XP_024303012.1:p.Arg225GlyfsTer?
XM_024447245.1:c.672del XP_024303013.1:p.Arg225GlyfsTer?
XM_024447248.1:c.630del XP_024303016.1:p.Arg211GlyfsTer?
XM_024447249.1:c.501del XP_024303017.1:p.Arg168GlyfsTer?
XM_024447250.1:c.501del XP_024303018.1:p.Arg168GlyfsTer?
XM_024447251.1:c.501del XP_024303019.1:p.Arg168GlyfsTer?
XR_001737190.1:n.1062del
XR_001737192.1:n.874del
XR_002956643.1:n.1054del
XR_002956644.1:n.1589del
XR_946658.1:n.1148del
XR_946658.2:n.1162del