Canonical Allele Identifier: CA2580611174

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 2567647
• ClinVar RCV Id: RCV003278608

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331825_45331833dup , CM000663.2:g.45331825_45331833dup	GRCh38
NC_000001.10:g.45797497_45797505dup , CM000663.1:g.45797497_45797505dup	GRCh37
NC_000001.9:g.45570084_45570092dup	NCBI36
NG_008189.1:g.13643_13651dup , LRG_220:g.13643_13651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.551_559dup	ENSP00000410263.2:p.Cys186_Leu187insHisLeuCys
ENST00000435155.2:c.968_976dup	ENSP00000403655.2:p.Cys325_Leu326insHisLeuCys
ENST00000467459.6:c.958_966dup	ENSP00000435889.2:p.Ala322_Cys323insThrCysAla
ENST00000483127.2:c.953_961dup	ENSP00000436469.2:p.Cys320_Leu321insHisLeuCys
ENST00000485271.6:c.935_943dup	ENSP00000431264.2:p.Cys314_Leu315insHisLeuCys
ENST00000529892.6:c.955+195_955+203dup	ENSP00000432528.2:n.955+195_955+203dup
ENST00000533178.6:c.*264_*272dup	ENSP00000436430.2:n.*264_*272dup
ENST00000672314.2:c.935_943dup	ENSP00000500828.2:p.Cys314_Leu315insHisLeuCys
ENST00000710952.2:c.1019_1027dup MANE Plus Clinical	ENSP00000518552.2:p.Cys342_Leu343insHisLeuCys
ENST00000672818.3:c.1010_1018dup	ENSP00000500891.1:p.Cys339_Leu340insHisLeuCys
ENST00000456914.7:c.935_943dup MANE Select	ENSP00000407590.2:p.Cys314_Leu315insHisLeuCys
ENST00000671898.1:c.1523_1531dup	ENSP00000499896.1:p.Cys510_Leu511insHisLeuCys
ENST00000672011.1:c.*264_*272dup	ENSP00000500418.1:n.*264_*272dup
ENST00000672314.1:c.935_943dup	ENSP00000500828.1:p.Cys314_Leu315insHisLeuCys
ENST00000672593.1:c.*1161_*1169dup	ENSP00000500455.1:n.*1161_*1169dup
ENST00000672764.1:c.*264_*272dup	ENSP00000500886.1:n.*264_*272dup
ENST00000672818.2:c.1010_1018dup	ENSP00000500891.1:p.Cys339_Leu340insHisLeuCys
ENST00000673134.1:c.*632_*640dup	ENSP00000500526.1:n.*632_*640dup
ENST00000354383.10:c.938_946dup	ENSP00000346354.6:p.Cys315_Leu316insHisLeuCys
ENST00000355498.6:c.935_943dup	ENSP00000347685.2:p.Cys314_Leu315insHisLeuCys
ENST00000372098.7:c.1010_1018dup	ENSP00000361170.3:p.Cys339_Leu340insHisLeuCys
ENST00000372104.5:c.935_943dup	ENSP00000361176.1:p.Cys314_Leu315insHisLeuCys
ENST00000372110.7:c.980_988dup	ENSP00000361182.3:p.Cys329_Leu330insHisLeuCys
ENST00000372115.7:c.977_985dup	ENSP00000361187.3:p.Cys328_Leu329insHisLeuCys
ENST00000412971.5:c.551_559dup	ENSP00000410263.1:p.Cys186_Leu187insHisLeuCys
ENST00000448481.5:c.968_976dup	ENSP00000409718.1:p.Cys325_Leu326insHisLeuCys
ENST00000450313.5:c.1019_1027dup	ENSP00000408176.1:p.Cys342_Leu343insHisLeuCys
ENST00000456914.6:c.935_943dup	ENSP00000407590.2:p.Cys314_Leu315insHisLeuCys
ENST00000462388.5:n.799_807dup
ENST00000466231.1:n.300_308dup
ENST00000467459.5:c.352_360dup	ENSP00000435889.1:p.Ala120_Cys121insThrCysAla
ENST00000475516.5:c.*748_*756dup	ENSP00000433843.1:n.*748_*756dup
ENST00000481571.5:c.*748_*756dup	ENSP00000436597.1:n.*748_*756dup
ENST00000482094.5:n.256_264dup
ENST00000488731.6:c.188-272_188-264dup	ENSP00000432330.1:n.188-272_188-264dup
ENST00000528013.6:c.977_985dup	ENSP00000433130.2:p.Cys328_Leu329insHisLeuCys
ENST00000529892.5:c.177+195_177+203dup
ENST00000529984.5:c.188-272_188-264dup	ENSP00000437093.1:n.188-272_188-264dup
ENST00000531105.5:c.116-2391_116-2383dup	ENSP00000431292.1:n.116-2391_116-2383dup
ENST00000533178.5:c.564_572dup	ENSP00000436430.1:n.564_572dup
NM_001048171.1:c.977_985dup	NP_001041636.1:p.Cys328_Leu329insHisLeuCys
NM_001048172.1:c.938_946dup	NP_001041637.1:p.Cys315_Leu316insHisLeuCys
NM_001048173.1:c.935_943dup	NP_001041638.1:p.Cys314_Leu315insHisLeuCys
NM_001048174.1:c.935_943dup	NP_001041639.1:p.Cys314_Leu315insHisLeuCys
NM_001128425.1:c.1019_1027dup , LRG_220t1:c.1019_1027dup	NP_001121897.1:p.Cys342_Leu343insHisLeuCys
NM_001293190.1:c.980_988dup	NP_001280119.1:p.Cys329_Leu330insHisLeuCys
NM_001293191.1:c.968_976dup	NP_001280120.1:p.Cys325_Leu326insHisLeuCys
NM_001293192.1:c.659_667dup	NP_001280121.1:p.Cys222_Leu223insHisLeuCys
NM_001293195.1:c.935_943dup	NP_001280124.1:p.Cys314_Leu315insHisLeuCys
NM_001293196.1:c.659_667dup	NP_001280125.1:p.Cys222_Leu223insHisLeuCys
NM_012222.2:c.1010_1018dup	NP_036354.1:p.Cys339_Leu340insHisLeuCys
XM_011541497.1:c.995_1003dup	XP_011539799.1:p.Cys334_Leu335insHisLeuCys
XM_011541498.1:c.977_985dup	XP_011539800.1:p.Cys328_Leu329insHisLeuCys
XM_011541499.1:c.977_985dup	XP_011539801.1:p.Cys328_Leu329insHisLeuCys
XM_011541500.1:c.977_985dup	XP_011539802.1:p.Cys328_Leu329insHisLeuCys
XM_011541501.1:c.977_985dup	XP_011539803.1:p.Cys328_Leu329insHisLeuCys
XM_011541502.1:c.977_985dup	XP_011539804.1:p.Cys328_Leu329insHisLeuCys
XM_011541503.1:c.977_985dup	XP_011539805.1:p.Cys328_Leu329insHisLeuCys
XM_011541504.1:c.968_976dup	XP_011539806.1:p.Cys325_Leu326insHisLeuCys
XM_011541505.1:c.557_565dup	XP_011539807.1:p.Cys188_Leu189insHisLeuCys
XM_011541506.1:c.557_565dup	XP_011539808.1:p.Cys188_Leu189insHisLeuCys
XM_011541507.1:c.548_556dup	XP_011539809.1:p.Cys185_Leu186insHisLeuCys
XM_011541508.1:c.563_571dup	XP_011539810.1:p.Cys190_Leu191insHisLeuCys
XR_946658.1:n.1066_1074dup
NM_001350650.1:c.590_598dup	NP_001337579.1:p.Cys199_Leu200insHisLeuCys
NM_001350651.1:c.590_598dup	NP_001337580.1:p.Cys199_Leu200insHisLeuCys
NR_146882.1:n.1193_1201dup
NR_146883.1:n.1007_1015dup
XM_011541497.3:c.995_1003dup	XP_011539799.1:p.Cys334_Leu335insHisLeuCys
XM_011541500.3:c.977_985dup	XP_011539802.1:p.Cys328_Leu329insHisLeuCys
XM_011541501.2:c.977_985dup	XP_011539803.1:p.Cys328_Leu329insHisLeuCys
XM_011541502.2:c.977_985dup	XP_011539804.1:p.Cys328_Leu329insHisLeuCys
XM_011541503.2:c.977_985dup	XP_011539805.1:p.Cys328_Leu329insHisLeuCys
XM_011541504.2:c.968_976dup	XP_011539806.1:p.Cys325_Leu326insHisLeuCys
XM_011541505.2:c.557_565dup	XP_011539807.1:p.Cys188_Leu189insHisLeuCys
XM_011541506.2:c.557_565dup	XP_011539808.1:p.Cys188_Leu189insHisLeuCys
XM_017001331.1:c.977_985dup	XP_016856820.1:p.Cys328_Leu329insHisLeuCys
XM_017001332.1:c.977_985dup	XP_016856821.1:p.Cys328_Leu329insHisLeuCys
XM_017001333.1:c.977_985dup	XP_016856822.1:p.Cys328_Leu329insHisLeuCys
XM_017001334.1:c.938_946dup	XP_016856823.1:p.Cys315_Leu316insHisLeuCys
XM_017001335.1:c.659_667dup	XP_016856824.1:p.Cys222_Leu223insHisLeuCys
XM_017001336.1:c.590_598dup	XP_016856825.1:p.Cys199_Leu200insHisLeuCys
XM_017001337.1:c.590_598dup	XP_016856826.1:p.Cys199_Leu200insHisLeuCys
XM_024447244.1:c.590_598dup	XP_024303012.1:p.Cys199_Leu200insHisLeuCys
XM_024447245.1:c.590_598dup	XP_024303013.1:p.Cys199_Leu200insHisLeuCys
XM_024447248.1:c.548_556dup	XP_024303016.1:p.Cys185_Leu186insHisLeuCys
XM_024447249.1:c.419_427dup	XP_024303017.1:p.Cys142_Leu143insHisLeuCys
XM_024447250.1:c.419_427dup	XP_024303018.1:p.Cys142_Leu143insHisLeuCys
XM_024447251.1:c.419_427dup	XP_024303019.1:p.Cys142_Leu143insHisLeuCys
XR_001737190.1:n.980_988dup
XR_001737192.1:n.792_800dup
XR_002956643.1:n.972_980dup
XR_002956644.1:n.1507_1515dup
XR_946658.2:n.1080_1088dup
NM_001048171.2:c.935_943dup	NP_001041636.2:p.Cys314_Leu315insHisLeuCys
NM_001128425.2:c.1019_1027dup MANE Plus Clinical	NP_001121897.1:p.Cys342_Leu343insHisLeuCys
NM_001048172.2:c.938_946dup	NP_001041637.1:p.Cys315_Leu316insHisLeuCys
NM_001048173.2:c.935_943dup	NP_001041638.1:p.Cys314_Leu315insHisLeuCys
NM_001048174.2:c.935_943dup MANE Select	NP_001041639.1:p.Cys314_Leu315insHisLeuCys
NM_001293190.2:c.980_988dup	NP_001280119.1:p.Cys329_Leu330insHisLeuCys
NM_001293191.2:c.968_976dup	NP_001280120.1:p.Cys325_Leu326insHisLeuCys
NM_001293192.2:c.659_667dup	NP_001280121.1:p.Cys222_Leu223insHisLeuCys
NM_001293195.2:c.935_943dup	NP_001280124.1:p.Cys314_Leu315insHisLeuCys
NM_001293196.2:c.659_667dup	NP_001280125.1:p.Cys222_Leu223insHisLeuCys
NM_001350650.2:c.590_598dup	NP_001337579.1:p.Cys199_Leu200insHisLeuCys
NM_001350651.2:c.590_598dup	NP_001337580.1:p.Cys199_Leu200insHisLeuCys
NM_012222.3:c.1010_1018dup	NP_036354.1:p.Cys339_Leu340insHisLeuCys
NR_146882.2:n.1163_1171dup
NR_146883.2:n.1012_1020dup