Canonical Allele Identifier: CA2473712417

Gene: MUTYH

Linked Data

• dbSNP Id: rs1644927954

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331815_45331827del , CM000663.2:g.45331815_45331827del	GRCh38
NC_000001.10:g.45797487_45797499del , CM000663.1:g.45797487_45797499del	GRCh37
NC_000001.9:g.45570074_45570086del	NCBI36
NG_008189.1:g.13646_13658del , LRG_220:g.13646_13658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.554_566del	ENSP00000410263.2:p.Leu185ProfsTer?
ENST00000435155.2:c.971_983del	ENSP00000403655.2:p.Leu324ProfsTer?
ENST00000467459.6:c.961_973del	ENSP00000435889.2:p.Cys321LeufsTer?
ENST00000483127.2:c.956_968del	ENSP00000436469.2:p.Leu319ProfsTer?
ENST00000485271.6:c.938_950del	ENSP00000431264.2:p.Leu313ProfsTer?
ENST00000529892.6:c.955+198_955+210del	ENSP00000432528.2:n.955+198_955+210del
ENST00000533178.6:c.*267_*279del	ENSP00000436430.2:n.*267_*279del
ENST00000672314.2:c.938_950del	ENSP00000500828.2:p.Leu313ProfsTer?
ENST00000710952.2:c.1022_1034del MANE Plus Clinical	ENSP00000518552.2:p.Leu341ProfsTer?
ENST00000672818.3:c.1013_1025del	ENSP00000500891.1:p.Leu338ProfsTer?
ENST00000456914.7:c.938_950del MANE Select	ENSP00000407590.2:p.Leu313ProfsTer?
ENST00000671898.1:c.1526_1538del	ENSP00000499896.1:p.Leu509ProfsTer?
ENST00000672011.1:c.*267_*279del	ENSP00000500418.1:n.*267_*279del
ENST00000672314.1:c.938_950del	ENSP00000500828.1:p.Leu313ProfsTer?
ENST00000672593.1:c.*1164_*1176del	ENSP00000500455.1:n.*1164_*1176del
ENST00000672764.1:c.*267_*279del	ENSP00000500886.1:n.*267_*279del
ENST00000672818.2:c.1013_1025del	ENSP00000500891.1:p.Leu338ProfsTer?
ENST00000673134.1:c.*635_*647del	ENSP00000500526.1:n.*635_*647del
ENST00000354383.10:c.941_953del	ENSP00000346354.6:p.Leu314ProfsTer?
ENST00000355498.6:c.938_950del	ENSP00000347685.2:p.Leu313ProfsTer?
ENST00000372098.7:c.1013_1025del	ENSP00000361170.3:p.Leu338ProfsTer?
ENST00000372104.5:c.938_950del	ENSP00000361176.1:p.Leu313ProfsTer?
ENST00000372110.7:c.983_995del	ENSP00000361182.3:p.Leu328ProfsTer?
ENST00000372115.7:c.980_992del	ENSP00000361187.3:p.Leu327ProfsTer?
ENST00000412971.5:c.554_566del	ENSP00000410263.1:p.Leu185ProfsTer?
ENST00000448481.5:c.971_983del	ENSP00000409718.1:p.Leu324ProfsTer?
ENST00000450313.5:c.1022_1034del	ENSP00000408176.1:p.Leu341ProfsTer?
ENST00000456914.6:c.938_950del	ENSP00000407590.2:p.Leu313ProfsTer?
ENST00000462388.5:n.802_814del
ENST00000466231.1:n.303_315del
ENST00000467459.5:c.355_367del	ENSP00000435889.1:p.Cys119LeufsTer?
ENST00000475516.5:c.*751_*763del	ENSP00000433843.1:n.*751_*763del
ENST00000481571.5:c.*751_*763del	ENSP00000436597.1:n.*751_*763del
ENST00000482094.5:n.259_271del
ENST00000488731.6:c.188-269_188-257del	ENSP00000432330.1:n.188-269_188-257del
ENST00000528013.6:c.980_992del	ENSP00000433130.2:p.Leu327ProfsTer?
ENST00000529892.5:c.177+198_177+210del
ENST00000529984.5:c.188-269_188-257del	ENSP00000437093.1:n.188-269_188-257del
ENST00000531105.5:c.116-2388_116-2376del	ENSP00000431292.1:n.116-2388_116-2376del
ENST00000533178.5:c.567_579del	ENSP00000436430.1:n.567_579del
NM_001048171.1:c.980_992del	NP_001041636.1:p.Leu327ProfsTer?
NM_001048172.1:c.941_953del	NP_001041637.1:p.Leu314ProfsTer?
NM_001048173.1:c.938_950del	NP_001041638.1:p.Leu313ProfsTer?
NM_001048174.1:c.938_950del	NP_001041639.1:p.Leu313ProfsTer?
NM_001128425.1:c.1022_1034del , LRG_220t1:c.1022_1034del	NP_001121897.1:p.Leu341ProfsTer?
NM_001293190.1:c.983_995del	NP_001280119.1:p.Leu328ProfsTer?
NM_001293191.1:c.971_983del	NP_001280120.1:p.Leu324ProfsTer?
NM_001293192.1:c.662_674del	NP_001280121.1:p.Leu221ProfsTer?
NM_001293195.1:c.938_950del	NP_001280124.1:p.Leu313ProfsTer?
NM_001293196.1:c.662_674del	NP_001280125.1:p.Leu221ProfsTer?
NM_012222.2:c.1013_1025del	NP_036354.1:p.Leu338ProfsTer?
XM_011541497.1:c.998_1010del	XP_011539799.1:p.Leu333ProfsTer?
XM_011541498.1:c.980_992del	XP_011539800.1:p.Leu327ProfsTer?
XM_011541499.1:c.980_992del	XP_011539801.1:p.Leu327ProfsTer?
XM_011541500.1:c.980_992del	XP_011539802.1:p.Leu327ProfsTer?
XM_011541501.1:c.980_992del	XP_011539803.1:p.Leu327ProfsTer?
XM_011541502.1:c.980_992del	XP_011539804.1:p.Leu327ProfsTer?
XM_011541503.1:c.980_992del	XP_011539805.1:p.Leu327ProfsTer?
XM_011541504.1:c.971_983del	XP_011539806.1:p.Leu324ProfsTer?
XM_011541505.1:c.560_572del	XP_011539807.1:p.Leu187ProfsTer?
XM_011541506.1:c.560_572del	XP_011539808.1:p.Leu187ProfsTer?
XM_011541507.1:c.551_563del	XP_011539809.1:p.Leu184ProfsTer?
XM_011541508.1:c.566_578del	XP_011539810.1:p.Leu189ProfsTer?
XR_946658.1:n.1069_1081del
NM_001350650.1:c.593_605del	NP_001337579.1:p.Leu198ProfsTer?
NM_001350651.1:c.593_605del	NP_001337580.1:p.Leu198ProfsTer?
NR_146882.1:n.1196_1208del
NR_146883.1:n.1010_1022del
XM_011541497.3:c.998_1010del	XP_011539799.1:p.Leu333ProfsTer?
XM_011541500.3:c.980_992del	XP_011539802.1:p.Leu327ProfsTer?
XM_011541501.2:c.980_992del	XP_011539803.1:p.Leu327ProfsTer?
XM_011541502.2:c.980_992del	XP_011539804.1:p.Leu327ProfsTer?
XM_011541503.2:c.980_992del	XP_011539805.1:p.Leu327ProfsTer?
XM_011541504.2:c.971_983del	XP_011539806.1:p.Leu324ProfsTer?
XM_011541505.2:c.560_572del	XP_011539807.1:p.Leu187ProfsTer?
XM_011541506.2:c.560_572del	XP_011539808.1:p.Leu187ProfsTer?
XM_017001331.1:c.980_992del	XP_016856820.1:p.Leu327ProfsTer?
XM_017001332.1:c.980_992del	XP_016856821.1:p.Leu327ProfsTer?
XM_017001333.1:c.980_992del	XP_016856822.1:p.Leu327ProfsTer?
XM_017001334.1:c.941_953del	XP_016856823.1:p.Leu314ProfsTer?
XM_017001335.1:c.662_674del	XP_016856824.1:p.Leu221ProfsTer?
XM_017001336.1:c.593_605del	XP_016856825.1:p.Leu198ProfsTer?
XM_017001337.1:c.593_605del	XP_016856826.1:p.Leu198ProfsTer?
XM_024447244.1:c.593_605del	XP_024303012.1:p.Leu198ProfsTer?
XM_024447245.1:c.593_605del	XP_024303013.1:p.Leu198ProfsTer?
XM_024447248.1:c.551_563del	XP_024303016.1:p.Leu184ProfsTer?
XM_024447249.1:c.422_434del	XP_024303017.1:p.Leu141ProfsTer?
XM_024447250.1:c.422_434del	XP_024303018.1:p.Leu141ProfsTer?
XM_024447251.1:c.422_434del	XP_024303019.1:p.Leu141ProfsTer?
XR_001737190.1:n.983_995del
XR_001737192.1:n.795_807del
XR_002956643.1:n.975_987del
XR_002956644.1:n.1510_1522del
XR_946658.2:n.1083_1095del
NM_001048171.2:c.938_950del	NP_001041636.2:p.Leu313ProfsTer?
NM_001128425.2:c.1022_1034del MANE Plus Clinical	NP_001121897.1:p.Leu341ProfsTer?
NM_001048172.2:c.941_953del	NP_001041637.1:p.Leu314ProfsTer?
NM_001048173.2:c.938_950del	NP_001041638.1:p.Leu313ProfsTer?
NM_001048174.2:c.938_950del MANE Select	NP_001041639.1:p.Leu313ProfsTer?
NM_001293190.2:c.983_995del	NP_001280119.1:p.Leu328ProfsTer?
NM_001293191.2:c.971_983del	NP_001280120.1:p.Leu324ProfsTer?
NM_001293192.2:c.662_674del	NP_001280121.1:p.Leu221ProfsTer?
NM_001293195.2:c.938_950del	NP_001280124.1:p.Leu313ProfsTer?
NM_001293196.2:c.662_674del	NP_001280125.1:p.Leu221ProfsTer?
NM_001350650.2:c.593_605del	NP_001337579.1:p.Leu198ProfsTer?
NM_001350651.2:c.593_605del	NP_001337580.1:p.Leu198ProfsTer?
NM_012222.3:c.1013_1025del	NP_036354.1:p.Leu338ProfsTer?
NR_146882.2:n.1166_1178del
NR_146883.2:n.1015_1027del