Canonical Allele Identifier: CA2499214763

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 1050952
• ClinVar RCV Id: RCV001358925
• dbSNP Id: rs2149140459

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332290_45332295del , CM000663.2:g.45332290_45332295del	GRCh38
NC_000001.10:g.45797962_45797967del , CM000663.1:g.45797962_45797967del	GRCh37
NC_000001.9:g.45570549_45570554del	NCBI36
NG_008189.1:g.13177_13182del , LRG_220:g.13177_13182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.337_342del	ENSP00000410263.2:p.Leu113_Val114del
ENST00000435155.2:c.754_759del	ENSP00000403655.2:p.Leu252_Val253del
ENST00000467459.6:c.721_726del	ENSP00000435889.2:p.Leu241_Val242del
ENST00000483127.2:c.739_744del	ENSP00000436469.2:p.Leu247_Val248del
ENST00000485271.6:c.721_726del	ENSP00000431264.2:p.Leu241_Val242del
ENST00000529892.6:c.763_768del	ENSP00000432528.2:p.Leu255_Val256del
ENST00000533178.6:c.*50_*55del	ENSP00000436430.2:n.*50_*55del
ENST00000672314.2:c.721_726del	ENSP00000500828.2:p.Leu241_Val242del
ENST00000674679.2:c.*633_*638del	ENSP00000501623.2:n.*633_*638del
ENST00000710952.2:c.805_810del MANE Plus Clinical	ENSP00000518552.2:p.Leu269_Val270del
ENST00000672818.3:c.796_801del	ENSP00000500891.1:p.Leu266_Val267del
ENST00000450313.6:c.*50_*55del	ENSP00000408176.2:n.*50_*55del
ENST00000456914.7:c.721_726del MANE Select	ENSP00000407590.2:p.Leu241_Val242del
ENST00000461495.6:c.*460_*465del	ENSP00000437166.1:n.*460_*465del
ENST00000671898.1:c.1309_1314del	ENSP00000499896.1:p.Leu437_Val438del
ENST00000672011.1:c.*50_*55del	ENSP00000500418.1:n.*50_*55del
ENST00000672314.1:c.721_726del	ENSP00000500828.1:p.Leu241_Val242del
ENST00000672593.1:c.*774_*779del	ENSP00000500455.1:n.*774_*779del
ENST00000672764.1:c.*50_*55del	ENSP00000500886.1:n.*50_*55del
ENST00000672818.2:c.796_801del	ENSP00000500891.1:p.Leu266_Val267del
ENST00000673134.1:c.*418_*423del	ENSP00000500526.1:n.*418_*423del
ENST00000674679.1:c.749_754del	ENSP00000501623.1:n.749_754del
ENST00000354383.10:c.724_729del	ENSP00000346354.6:p.Leu242_Val243del
ENST00000355498.6:c.721_726del	ENSP00000347685.2:p.Leu241_Val242del
ENST00000372098.7:c.796_801del	ENSP00000361170.3:p.Leu266_Val267del
ENST00000372104.5:c.721_726del	ENSP00000361176.1:p.Leu241_Val242del
ENST00000372110.7:c.766_771del	ENSP00000361182.3:p.Leu256_Val257del
ENST00000372115.7:c.763_768del	ENSP00000361187.3:p.Leu255_Val256del
ENST00000412971.5:c.337_342del	ENSP00000410263.1:p.Leu113_Val114del
ENST00000435155.1:c.754_759del	ENSP00000403655.1:p.Leu252_Val253del
ENST00000448481.5:c.754_759del	ENSP00000409718.1:p.Leu252_Val253del
ENST00000450313.5:c.805_810del	ENSP00000408176.1:p.Leu269_Val270del
ENST00000456914.6:c.721_726del	ENSP00000407590.2:p.Leu241_Val242del
ENST00000461495.5:c.*460_*465del	ENSP00000437166.1:n.*460_*465del
ENST00000462388.5:n.412_417del
ENST00000466231.1:n.86_91del
ENST00000467459.5:c.115_120del	ENSP00000435889.1:p.Leu39_Val40del
ENST00000467940.5:c.*644_*649del	ENSP00000436478.1:n.*644_*649del
ENST00000470256.5:c.*50_*55del	ENSP00000434985.1:n.*50_*55del
ENST00000475516.5:c.*534_*539del	ENSP00000433843.1:n.*534_*539del
ENST00000478796.5:n.708_713del
ENST00000481571.5:c.*534_*539del	ENSP00000436597.1:n.*534_*539del
ENST00000488731.6:c.187+469_187+474del	ENSP00000432330.1:n.187+469_187+474del
ENST00000528013.6:c.763_768del	ENSP00000433130.2:p.Leu255_Val256del
ENST00000529984.5:c.187+469_187+474del	ENSP00000437093.1:n.187+469_187+474del
ENST00000531105.5:c.115+2097_115+2102del	ENSP00000431292.1:n.115+2097_115+2102del
ENST00000533178.5:c.350_355del	ENSP00000436430.1:n.350_355del
NM_001048171.1:c.763_768del	NP_001041636.1:p.Leu255_Val256del
NM_001048172.1:c.724_729del	NP_001041637.1:p.Leu242_Val243del
NM_001048173.1:c.721_726del	NP_001041638.1:p.Leu241_Val242del
NM_001048174.1:c.721_726del	NP_001041639.1:p.Leu241_Val242del
NM_001128425.1:c.805_810del , LRG_220t1:c.805_810del	NP_001121897.1:p.Leu269_Val270del
NM_001293190.1:c.766_771del	NP_001280119.1:p.Leu256_Val257del
NM_001293191.1:c.754_759del	NP_001280120.1:p.Leu252_Val253del
NM_001293192.1:c.445_450del	NP_001280121.1:p.Leu149_Val150del
NM_001293195.1:c.721_726del	NP_001280124.1:p.Leu241_Val242del
NM_001293196.1:c.445_450del	NP_001280125.1:p.Leu149_Val150del
NM_012222.2:c.796_801del	NP_036354.1:p.Leu266_Val267del
XM_011541497.1:c.781_786del	XP_011539799.1:p.Leu261_Val262del
XM_011541498.1:c.763_768del	XP_011539800.1:p.Leu255_Val256del
XM_011541499.1:c.763_768del	XP_011539801.1:p.Leu255_Val256del
XM_011541500.1:c.763_768del	XP_011539802.1:p.Leu255_Val256del
XM_011541501.1:c.763_768del	XP_011539803.1:p.Leu255_Val256del
XM_011541502.1:c.763_768del	XP_011539804.1:p.Leu255_Val256del
XM_011541503.1:c.763_768del	XP_011539805.1:p.Leu255_Val256del
XM_011541504.1:c.754_759del	XP_011539806.1:p.Leu252_Val253del
XM_011541505.1:c.343_348del	XP_011539807.1:p.Leu115_Val116del
XM_011541506.1:c.343_348del	XP_011539808.1:p.Leu115_Val116del
XM_011541507.1:c.334_339del	XP_011539809.1:p.Leu112_Val113del
XM_011541508.1:c.349_354del	XP_011539810.1:p.Leu117_Val118del
XR_946658.1:n.852_857del
NM_001350650.1:c.376_381del	NP_001337579.1:p.Leu126_Val127del
NM_001350651.1:c.376_381del	NP_001337580.1:p.Leu126_Val127del
NR_146882.1:n.979_984del
NR_146883.1:n.793_798del
XM_011541497.3:c.781_786del	XP_011539799.1:p.Leu261_Val262del
XM_011541500.3:c.763_768del	XP_011539802.1:p.Leu255_Val256del
XM_011541501.2:c.763_768del	XP_011539803.1:p.Leu255_Val256del
XM_011541502.2:c.763_768del	XP_011539804.1:p.Leu255_Val256del
XM_011541503.2:c.763_768del	XP_011539805.1:p.Leu255_Val256del
XM_011541504.2:c.754_759del	XP_011539806.1:p.Leu252_Val253del
XM_011541505.2:c.343_348del	XP_011539807.1:p.Leu115_Val116del
XM_011541506.2:c.343_348del	XP_011539808.1:p.Leu115_Val116del
XM_017001331.1:c.763_768del	XP_016856820.1:p.Leu255_Val256del
XM_017001332.1:c.763_768del	XP_016856821.1:p.Leu255_Val256del
XM_017001333.1:c.763_768del	XP_016856822.1:p.Leu255_Val256del
XM_017001334.1:c.724_729del	XP_016856823.1:p.Leu242_Val243del
XM_017001335.1:c.445_450del	XP_016856824.1:p.Leu149_Val150del
XM_017001336.1:c.376_381del	XP_016856825.1:p.Leu126_Val127del
XM_017001337.1:c.376_381del	XP_016856826.1:p.Leu126_Val127del
XM_024447244.1:c.376_381del	XP_024303012.1:p.Leu126_Val127del
XM_024447245.1:c.376_381del	XP_024303013.1:p.Leu126_Val127del
XM_024447248.1:c.334_339del	XP_024303016.1:p.Leu112_Val113del
XM_024447249.1:c.205_210del	XP_024303017.1:p.Leu69_Val70del
XM_024447250.1:c.205_210del	XP_024303018.1:p.Leu69_Val70del
XM_024447251.1:c.205_210del	XP_024303019.1:p.Leu69_Val70del
XR_001737190.1:n.766_771del
XR_001737192.1:n.578_583del
XR_002956643.1:n.758_763del
XR_002956644.1:n.1293_1298del
XR_946658.2:n.866_871del
NM_001048171.2:c.721_726del	NP_001041636.2:p.Leu241_Val242del
NM_001128425.2:c.805_810del MANE Plus Clinical	NP_001121897.1:p.Leu269_Val270del
NM_001048172.2:c.724_729del	NP_001041637.1:p.Leu242_Val243del
NM_001048173.2:c.721_726del	NP_001041638.1:p.Leu241_Val242del
NM_001048174.2:c.721_726del MANE Select	NP_001041639.1:p.Leu241_Val242del
NM_001293190.2:c.766_771del	NP_001280119.1:p.Leu256_Val257del
NM_001293191.2:c.754_759del	NP_001280120.1:p.Leu252_Val253del
NM_001293192.2:c.445_450del	NP_001280121.1:p.Leu149_Val150del
NM_001293195.2:c.721_726del	NP_001280124.1:p.Leu241_Val242del
NM_001293196.2:c.445_450del	NP_001280125.1:p.Leu149_Val150del
NM_001350650.2:c.376_381del	NP_001337579.1:p.Leu126_Val127del
NM_001350651.2:c.376_381del	NP_001337580.1:p.Leu126_Val127del
NM_012222.3:c.796_801del	NP_036354.1:p.Leu266_Val267del
NR_146882.2:n.949_954del
NR_146883.2:n.798_803del