Canonical Allele Identifier: CA645372119
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 533306
ClinVar RCV Id: RCV000640364
dbSNP Id: rs1553125677

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331454_45331463del , CM000663.2:g.45331454_45331463del GRCh38
NC_000001.10:g.45797126_45797135del , CM000663.1:g.45797126_45797135del GRCh37
NC_000001.9:g.45569713_45569722del NCBI36
NG_008189.1:g.14008_14017del , LRG_220:g.14008_14017del

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.812_821del ENSP00000410263.2:p.Trp271SerfsTer22
ENST00000435155.2:c.1229_1238del ENSP00000403655.2:p.Trp410SerfsTer22
ENST00000467459.6:c.*58_*67del ENSP00000435889.2:n.*58_*67del
ENST00000483127.2:c.1214_1223del ENSP00000436469.2:p.Trp405SerfsTer22
ENST00000485271.6:c.1196_1205del ENSP00000431264.2:p.Trp399SerfsTer22
ENST00000529892.6:c.1049_1058del ENSP00000432528.2:p.Trp350SerfsTer22
ENST00000533178.6:c.*525_*534del ENSP00000436430.2:n.*525_*534del
ENST00000672314.2:c.1196_1205del ENSP00000500828.2:p.Trp399SerfsTer22
ENST00000710952.2:c.1280_1289del MANE Plus Clinical ENSP00000518552.2:p.Trp427SerfsTer22
ENST00000672818.3:c.1271_1280del ENSP00000500891.1:p.Trp424SerfsTer22
ENST00000456914.7:c.1196_1205del MANE Select ENSP00000407590.2:p.Trp399SerfsTer22
ENST00000671898.1:c.1784_1793del ENSP00000499896.1:p.Trp595SerfsTer22
ENST00000672011.1:c.*525_*534del ENSP00000500418.1:n.*525_*534del
ENST00000672314.1:c.1196_1205del ENSP00000500828.1:p.Trp399SerfsTer22
ENST00000672593.1:c.*1422_*1431del ENSP00000500455.1:n.*1422_*1431del
ENST00000672818.2:c.1271_1280del ENSP00000500891.1:p.Trp424SerfsTer22
ENST00000673134.1:c.*893_*902del ENSP00000500526.1:n.*893_*902del
ENST00000354383.10:c.1199_1208del ENSP00000346354.6:p.Trp400SerfsTer22
ENST00000355498.6:c.1196_1205del ENSP00000347685.2:p.Trp399SerfsTer22
ENST00000372098.7:c.1271_1280del ENSP00000361170.3:p.Trp424SerfsTer22
ENST00000372104.5:c.1196_1205del ENSP00000361176.1:p.Trp399SerfsTer22
ENST00000372110.7:c.1241_1250del ENSP00000361182.3:p.Trp414SerfsTer22
ENST00000372115.7:c.1238_1247del ENSP00000361187.3:p.Trp413SerfsTer22
ENST00000448481.5:c.1229_1238del ENSP00000409718.1:p.Trp410SerfsTer22
ENST00000450313.5:c.1280_1289del ENSP00000408176.1:p.Trp427SerfsTer22
ENST00000456914.6:c.1196_1205del ENSP00000407590.2:p.Trp399SerfsTer22
ENST00000467459.5:c.613_622del ENSP00000435889.1:n.613_622del
ENST00000475516.5:c.*1009_*1018del ENSP00000433843.1:n.*1009_*1018del
ENST00000481571.5:c.*1009_*1018del ENSP00000436597.1:n.*1009_*1018del
ENST00000482094.5:n.517_526del
ENST00000488731.6:c.281_290del ENSP00000432330.1:p.Trp94SerfsTer22
ENST00000528013.6:c.1238_1247del ENSP00000433130.2:p.Trp413SerfsTer22
ENST00000529892.5:c.271_280del
ENST00000529984.5:c.281_290del ENSP00000437093.1:p.Trp94SerfsTer22
ENST00000531105.5:c.116-2026_116-2017del ENSP00000431292.1:n.116-2026_116-2017del
ENST00000533178.5:c.825_834del ENSP00000436430.1:n.825_834del
NM_001048171.1:c.1238_1247del NP_001041636.1:p.Trp413SerfsTer22
NM_001048172.1:c.1199_1208del NP_001041637.1:p.Trp400SerfsTer22
NM_001048173.1:c.1196_1205del NP_001041638.1:p.Trp399SerfsTer22
NM_001048174.1:c.1196_1205del NP_001041639.1:p.Trp399SerfsTer22
NM_001128425.1:c.1280_1289del , LRG_220t1:c.1280_1289del NP_001121897.1:p.Trp427SerfsTer22
NM_001293190.1:c.1241_1250del NP_001280119.1:p.Trp414SerfsTer22
NM_001293191.1:c.1229_1238del NP_001280120.1:p.Trp410SerfsTer22
NM_001293192.1:c.920_929del NP_001280121.1:p.Trp307SerfsTer22
NM_001293195.1:c.1196_1205del NP_001280124.1:p.Trp399SerfsTer22
NM_001293196.1:c.920_929del NP_001280125.1:p.Trp307SerfsTer22
NM_012222.2:c.1271_1280del NP_036354.1:p.Trp424SerfsTer22
XM_011541497.1:c.1256_1265del XP_011539799.1:p.Trp419SerfsTer22
XM_011541498.1:c.1238_1247del XP_011539800.1:p.Trp413SerfsTer22
XM_011541499.1:c.1238_1247del XP_011539801.1:p.Trp413SerfsTer22
XM_011541500.1:c.1238_1247del XP_011539802.1:p.Trp413SerfsTer22
XM_011541501.1:c.1238_1247del XP_011539803.1:p.Trp413SerfsTer22
XM_011541502.1:c.1238_1247del XP_011539804.1:p.Trp413SerfsTer22
XM_011541503.1:c.1238_1247del XP_011539805.1:p.Trp413SerfsTer22
XM_011541504.1:c.1229_1238del XP_011539806.1:p.Trp410SerfsTer22
XM_011541505.1:c.818_827del XP_011539807.1:p.Trp273SerfsTer22
XM_011541506.1:c.818_827del XP_011539808.1:p.Trp273SerfsTer22
XM_011541507.1:c.809_818del XP_011539809.1:p.Trp270SerfsTer22
XM_011541508.1:c.824_833del XP_011539810.1:p.Trp275SerfsTer22
XR_946658.1:n.1327_1336del
NM_001350650.1:c.851_860del NP_001337579.1:p.Trp284SerfsTer22
NM_001350651.1:c.851_860del NP_001337580.1:p.Trp284SerfsTer22
NR_146882.1:n.1454_1463del
NR_146883.1:n.1268_1277del
XM_011541497.3:c.1256_1265del XP_011539799.1:p.Trp419SerfsTer22
XM_011541500.3:c.1238_1247del XP_011539802.1:p.Trp413SerfsTer22
XM_011541501.2:c.1238_1247del XP_011539803.1:p.Trp413SerfsTer22
XM_011541502.2:c.1238_1247del XP_011539804.1:p.Trp413SerfsTer22
XM_011541503.2:c.1238_1247del XP_011539805.1:p.Trp413SerfsTer22
XM_011541504.2:c.1229_1238del XP_011539806.1:p.Trp410SerfsTer22
XM_011541505.2:c.818_827del XP_011539807.1:p.Trp273SerfsTer22
XM_011541506.2:c.818_827del XP_011539808.1:p.Trp273SerfsTer22
XM_017001331.1:c.1238_1247del XP_016856820.1:p.Trp413SerfsTer22
XM_017001332.1:c.1238_1247del XP_016856821.1:p.Trp413SerfsTer22
XM_017001333.1:c.1238_1247del XP_016856822.1:p.Trp413SerfsTer22
XM_017001334.1:c.1199_1208del XP_016856823.1:p.Trp400SerfsTer22
XM_017001335.1:c.920_929del XP_016856824.1:p.Trp307SerfsTer22
XM_017001336.1:c.851_860del XP_016856825.1:p.Trp284SerfsTer22
XM_017001337.1:c.851_860del XP_016856826.1:p.Trp284SerfsTer22
XM_024447244.1:c.851_860del XP_024303012.1:p.Trp284SerfsTer22
XM_024447245.1:c.851_860del XP_024303013.1:p.Trp284SerfsTer22
XM_024447248.1:c.809_818del XP_024303016.1:p.Trp270SerfsTer22
XM_024447249.1:c.680_689del XP_024303017.1:p.Trp227SerfsTer22
XM_024447250.1:c.680_689del XP_024303018.1:p.Trp227SerfsTer22
XM_024447251.1:c.680_689del XP_024303019.1:p.Trp227SerfsTer22
XR_001737190.1:n.1241_1250del
XR_001737192.1:n.1053_1062del
XR_002956643.1:n.1233_1242del
XR_002956644.1:n.1768_1777del
XR_946658.2:n.1341_1350del
NM_001048171.2:c.1196_1205del NP_001041636.2:p.Trp399SerfsTer22
NM_001128425.2:c.1280_1289del MANE Plus Clinical NP_001121897.1:p.Trp427SerfsTer22
NM_001048172.2:c.1199_1208del NP_001041637.1:p.Trp400SerfsTer22
NM_001048173.2:c.1196_1205del NP_001041638.1:p.Trp399SerfsTer22
NM_001048174.2:c.1196_1205del MANE Select NP_001041639.1:p.Trp399SerfsTer22
NM_001293190.2:c.1241_1250del NP_001280119.1:p.Trp414SerfsTer22
NM_001293191.2:c.1229_1238del NP_001280120.1:p.Trp410SerfsTer22
NM_001293192.2:c.920_929del NP_001280121.1:p.Trp307SerfsTer22
NM_001293195.2:c.1196_1205del NP_001280124.1:p.Trp399SerfsTer22
NM_001293196.2:c.920_929del NP_001280125.1:p.Trp307SerfsTer22
NM_001350650.2:c.851_860del NP_001337579.1:p.Trp284SerfsTer22
NM_001350651.2:c.851_860del NP_001337580.1:p.Trp284SerfsTer22
NM_012222.3:c.1271_1280del NP_036354.1:p.Trp424SerfsTer22
NR_146882.2:n.1424_1433del
NR_146883.2:n.1273_1282del