Canonical Allele Identifier: CA913187615

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 923365
• ClinVar RCV Id: RCV001183964
• dbSNP Id: rs1645023044

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332191_45332193delinsCCA , CM000663.2:g.45332191_45332193delinsCCA	GRCh38
NC_000001.10:g.45797863_45797865delinsCCA , CM000663.1:g.45797863_45797865delinsCCA	GRCh37
NC_000001.9:g.45570450_45570452delinsCCA	NCBI36
NG_008189.1:g.13278_13280delinsTGG , LRG_220:g.13278_13280delinsTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.438_440delinsTGG	ENSP00000410263.2:p.Glu147Gly
ENST00000435155.2:c.855_857delinsTGG	ENSP00000403655.2:p.Glu286Gly
ENST00000467459.6:c.822_824delinsTGG	ENSP00000435889.2:p.Glu275Gly
ENST00000483127.2:c.840_842delinsTGG	ENSP00000436469.2:p.Glu281Gly
ENST00000485271.6:c.822_824delinsTGG	ENSP00000431264.2:p.Glu275Gly
ENST00000529892.6:c.864_866delinsTGG	ENSP00000432528.2:p.Glu289Gly
ENST00000533178.6:c.*151_*153delinsTGG	ENSP00000436430.2:n.*151_*153delinsTGG
ENST00000672314.2:c.822_824delinsTGG	ENSP00000500828.2:p.Glu275Gly
ENST00000710952.2:c.906_908delinsTGG MANE Plus Clinical	ENSP00000518552.2:p.Glu303Gly
ENST00000672818.3:c.897_899delinsTGG	ENSP00000500891.1:p.Glu300Gly
ENST00000456914.7:c.822_824delinsTGG MANE Select	ENSP00000407590.2:p.Glu275Gly
ENST00000461495.6:c.*561_*563delinsTGG	ENSP00000437166.1:n.*561_*563delinsTGG
ENST00000671898.1:c.1410_1412delinsTGG	ENSP00000499896.1:p.Glu471Gly
ENST00000672011.1:c.*151_*153delinsTGG	ENSP00000500418.1:n.*151_*153delinsTGG
ENST00000672314.1:c.822_824delinsTGG	ENSP00000500828.1:p.Glu275Gly
ENST00000672593.1:c.*875_*877delinsTGG	ENSP00000500455.1:n.*875_*877delinsTGG
ENST00000672764.1:c.*151_*153delinsTGG	ENSP00000500886.1:n.*151_*153delinsTGG
ENST00000672818.2:c.897_899delinsTGG	ENSP00000500891.1:p.Glu300Gly
ENST00000673134.1:c.*519_*521delinsTGG	ENSP00000500526.1:n.*519_*521delinsTGG
ENST00000354383.10:c.825_827delinsTGG	ENSP00000346354.6:p.Glu276Gly
ENST00000355498.6:c.822_824delinsTGG	ENSP00000347685.2:p.Glu275Gly
ENST00000372098.7:c.897_899delinsTGG	ENSP00000361170.3:p.Glu300Gly
ENST00000372104.5:c.822_824delinsTGG	ENSP00000361176.1:p.Glu275Gly
ENST00000372110.7:c.867_869delinsTGG	ENSP00000361182.3:p.Glu290Gly
ENST00000372115.7:c.864_866delinsTGG	ENSP00000361187.3:p.Glu289Gly
ENST00000412971.5:c.438_440delinsTGG	ENSP00000410263.1:p.Glu147Gly
ENST00000435155.1:c.855_857delinsTGG	ENSP00000403655.1:p.Glu286Gly
ENST00000448481.5:c.855_857delinsTGG	ENSP00000409718.1:p.Glu286Gly
ENST00000450313.5:c.906_908delinsTGG	ENSP00000408176.1:p.Glu303Gly
ENST00000456914.6:c.822_824delinsTGG	ENSP00000407590.2:p.Glu275Gly
ENST00000461495.5:c.*561_*563delinsTGG	ENSP00000437166.1:n.*561_*563delinsTGG
ENST00000462388.5:n.513_515delinsTGG
ENST00000466231.1:n.187_189delinsTGG
ENST00000467459.5:c.216_218delinsTGG	ENSP00000435889.1:p.Glu73Gly
ENST00000470256.5:c.*151_*153delinsTGG	ENSP00000434985.1:n.*151_*153delinsTGG
ENST00000475516.5:c.*635_*637delinsTGG	ENSP00000433843.1:n.*635_*637delinsTGG
ENST00000481571.5:c.*635_*637delinsTGG	ENSP00000436597.1:n.*635_*637delinsTGG
ENST00000488731.6:c.187+570_187+572delinsTGG	ENSP00000432330.1:n.187+570_187+572delins...
ENST00000528013.6:c.864_866delinsTGG	ENSP00000433130.2:p.Glu289Gly
ENST00000529892.5:c.86_88delinsTGG
ENST00000529984.5:c.187+570_187+572delinsTGG	ENSP00000437093.1:n.187+570_187+572delins...
ENST00000531105.5:c.115+2198_115+2200delinsTGG	ENSP00000431292.1:n.115+2198_115+2200deli...
ENST00000533178.5:c.451_453delinsTGG	ENSP00000436430.1:n.451_453delinsTGG
NM_001048171.1:c.864_866delinsTGG	NP_001041636.1:p.Glu289Gly
NM_001048172.1:c.825_827delinsTGG	NP_001041637.1:p.Glu276Gly
NM_001048173.1:c.822_824delinsTGG	NP_001041638.1:p.Glu275Gly
NM_001048174.1:c.822_824delinsTGG	NP_001041639.1:p.Glu275Gly
NM_001128425.1:c.906_908delinsTGG , LRG_220t1:c.906_908delinsTGG	NP_001121897.1:p.Glu303Gly
NM_001293190.1:c.867_869delinsTGG	NP_001280119.1:p.Glu290Gly
NM_001293191.1:c.855_857delinsTGG	NP_001280120.1:p.Glu286Gly
NM_001293192.1:c.546_548delinsTGG	NP_001280121.1:p.Glu183Gly
NM_001293195.1:c.822_824delinsTGG	NP_001280124.1:p.Glu275Gly
NM_001293196.1:c.546_548delinsTGG	NP_001280125.1:p.Glu183Gly
NM_012222.2:c.897_899delinsTGG	NP_036354.1:p.Glu300Gly
XM_011541497.1:c.882_884delinsTGG	XP_011539799.1:p.Glu295Gly
XM_011541498.1:c.864_866delinsTGG	XP_011539800.1:p.Glu289Gly
XM_011541499.1:c.864_866delinsTGG	XP_011539801.1:p.Glu289Gly
XM_011541500.1:c.864_866delinsTGG	XP_011539802.1:p.Glu289Gly
XM_011541501.1:c.864_866delinsTGG	XP_011539803.1:p.Glu289Gly
XM_011541502.1:c.864_866delinsTGG	XP_011539804.1:p.Glu289Gly
XM_011541503.1:c.864_866delinsTGG	XP_011539805.1:p.Glu289Gly
XM_011541504.1:c.855_857delinsTGG	XP_011539806.1:p.Glu286Gly
XM_011541505.1:c.444_446delinsTGG	XP_011539807.1:p.Glu149Gly
XM_011541506.1:c.444_446delinsTGG	XP_011539808.1:p.Glu149Gly
XM_011541507.1:c.435_437delinsTGG	XP_011539809.1:p.Glu146Gly
XM_011541508.1:c.450_452delinsTGG	XP_011539810.1:p.Glu151Gly
XR_946658.1:n.953_955delinsTGG
NM_001350650.1:c.477_479delinsTGG	NP_001337579.1:p.Glu160Gly
NM_001350651.1:c.477_479delinsTGG	NP_001337580.1:p.Glu160Gly
NR_146882.1:n.1080_1082delinsTGG
NR_146883.1:n.894_896delinsTGG
XM_011541497.3:c.882_884delinsTGG	XP_011539799.1:p.Glu295Gly
XM_011541500.3:c.864_866delinsTGG	XP_011539802.1:p.Glu289Gly
XM_011541501.2:c.864_866delinsTGG	XP_011539803.1:p.Glu289Gly
XM_011541502.2:c.864_866delinsTGG	XP_011539804.1:p.Glu289Gly
XM_011541503.2:c.864_866delinsTGG	XP_011539805.1:p.Glu289Gly
XM_011541504.2:c.855_857delinsTGG	XP_011539806.1:p.Glu286Gly
XM_011541505.2:c.444_446delinsTGG	XP_011539807.1:p.Glu149Gly
XM_011541506.2:c.444_446delinsTGG	XP_011539808.1:p.Glu149Gly
XM_017001331.1:c.864_866delinsTGG	XP_016856820.1:p.Glu289Gly
XM_017001332.1:c.864_866delinsTGG	XP_016856821.1:p.Glu289Gly
XM_017001333.1:c.864_866delinsTGG	XP_016856822.1:p.Glu289Gly
XM_017001334.1:c.825_827delinsTGG	XP_016856823.1:p.Glu276Gly
XM_017001335.1:c.546_548delinsTGG	XP_016856824.1:p.Glu183Gly
XM_017001336.1:c.477_479delinsTGG	XP_016856825.1:p.Glu160Gly
XM_017001337.1:c.477_479delinsTGG	XP_016856826.1:p.Glu160Gly
XM_024447244.1:c.477_479delinsTGG	XP_024303012.1:p.Glu160Gly
XM_024447245.1:c.477_479delinsTGG	XP_024303013.1:p.Glu160Gly
XM_024447248.1:c.435_437delinsTGG	XP_024303016.1:p.Glu146Gly
XM_024447249.1:c.306_308delinsTGG	XP_024303017.1:p.Glu103Gly
XM_024447250.1:c.306_308delinsTGG	XP_024303018.1:p.Glu103Gly
XM_024447251.1:c.306_308delinsTGG	XP_024303019.1:p.Glu103Gly
XR_001737190.1:n.867_869delinsTGG
XR_001737192.1:n.679_681delinsTGG
XR_002956643.1:n.859_861delinsTGG
XR_002956644.1:n.1394_1396delinsTGG
XR_946658.2:n.967_969delinsTGG
NM_001048171.2:c.822_824delinsTGG	NP_001041636.2:p.Glu275Gly
NM_001128425.2:c.906_908delinsTGG MANE Plus Clinical	NP_001121897.1:p.Glu303Gly
NM_001048172.2:c.825_827delinsTGG	NP_001041637.1:p.Glu276Gly
NM_001048173.2:c.822_824delinsTGG	NP_001041638.1:p.Glu275Gly
NM_001048174.2:c.822_824delinsTGG MANE Select	NP_001041639.1:p.Glu275Gly
NM_001293190.2:c.867_869delinsTGG	NP_001280119.1:p.Glu290Gly
NM_001293191.2:c.855_857delinsTGG	NP_001280120.1:p.Glu286Gly
NM_001293192.2:c.546_548delinsTGG	NP_001280121.1:p.Glu183Gly
NM_001293195.2:c.822_824delinsTGG	NP_001280124.1:p.Glu275Gly
NM_001293196.2:c.546_548delinsTGG	NP_001280125.1:p.Glu183Gly
NM_001350650.2:c.477_479delinsTGG	NP_001337579.1:p.Glu160Gly
NM_001350651.2:c.477_479delinsTGG	NP_001337580.1:p.Glu160Gly
NM_012222.3:c.897_899delinsTGG	NP_036354.1:p.Glu300Gly
NR_146882.2:n.1050_1052delinsTGG
NR_146883.2:n.899_901delinsTGG