Canonical Allele Identifier: CA2843004530
Gene: MUTYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331516_45331517del , CM000663.2:g.45331516_45331517del GRCh38
NC_000001.10:g.45797188_45797189del , CM000663.1:g.45797188_45797189del GRCh37
NC_000001.9:g.45569775_45569776del NCBI36
NG_008189.1:g.13955_13956del , LRG_220:g.13955_13956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.759_760del ENSP00000410263.2:p.Trp253Ter
ENST00000435155.2:c.1176_1177del ENSP00000403655.2:p.Trp392Ter
ENST00000467459.6:c.*5_*6del ENSP00000435889.2:n.*5_*6del
ENST00000483127.2:c.1161_1162del ENSP00000436469.2:p.Trp387Ter
ENST00000485271.6:c.1143_1144del ENSP00000431264.2:p.Trp381Ter
ENST00000529892.6:c.996_997del ENSP00000432528.2:p.Trp332Ter
ENST00000533178.6:c.*472_*473del ENSP00000436430.2:n.*472_*473del
ENST00000672314.2:c.1143_1144del ENSP00000500828.2:p.Trp381Ter
ENST00000710952.2:c.1227_1228del MANE Plus Clinical ENSP00000518552.2:p.Trp409Ter
ENST00000672818.3:c.1218_1219del ENSP00000500891.1:p.Trp406Ter
ENST00000456914.7:c.1143_1144del MANE Select ENSP00000407590.2:p.Trp381Ter
ENST00000671898.1:c.1731_1732del ENSP00000499896.1:p.Trp577Ter
ENST00000672011.1:c.*472_*473del ENSP00000500418.1:n.*472_*473del
ENST00000672314.1:c.1143_1144del ENSP00000500828.1:p.Trp381Ter
ENST00000672593.1:c.*1369_*1370del ENSP00000500455.1:n.*1369_*1370del
ENST00000672818.2:c.1218_1219del ENSP00000500891.1:p.Trp406Ter
ENST00000673134.1:c.*840_*841del ENSP00000500526.1:n.*840_*841del
ENST00000354383.10:c.1146_1147del ENSP00000346354.6:p.Trp382Ter
ENST00000355498.6:c.1143_1144del ENSP00000347685.2:p.Trp381Ter
ENST00000372098.7:c.1218_1219del ENSP00000361170.3:p.Trp406Ter
ENST00000372104.5:c.1143_1144del ENSP00000361176.1:p.Trp381Ter
ENST00000372110.7:c.1188_1189del ENSP00000361182.3:p.Trp396Ter
ENST00000372115.7:c.1185_1186del ENSP00000361187.3:p.Trp395Ter
ENST00000448481.5:c.1176_1177del ENSP00000409718.1:p.Trp392Ter
ENST00000450313.5:c.1227_1228del ENSP00000408176.1:p.Trp409Ter
ENST00000456914.6:c.1143_1144del ENSP00000407590.2:p.Trp381Ter
ENST00000467459.5:c.560_561del ENSP00000435889.1:n.560_561del
ENST00000475516.5:c.*956_*957del ENSP00000433843.1:n.*956_*957del
ENST00000481571.5:c.*956_*957del ENSP00000436597.1:n.*956_*957del
ENST00000482094.5:n.464_465del
ENST00000488731.6:c.228_229del ENSP00000432330.1:p.Trp76Ter
ENST00000528013.6:c.1185_1186del ENSP00000433130.2:p.Trp395Ter
ENST00000529892.5:c.218_219del
ENST00000529984.5:c.228_229del ENSP00000437093.1:p.Trp76Ter
ENST00000531105.5:c.116-2079_116-2078del ENSP00000431292.1:n.116-2079_116-2078del
ENST00000533178.5:c.772_773del ENSP00000436430.1:n.772_773del
NM_001048171.1:c.1185_1186del NP_001041636.1:p.Trp395Ter
NM_001048172.1:c.1146_1147del NP_001041637.1:p.Trp382Ter
NM_001048173.1:c.1143_1144del NP_001041638.1:p.Trp381Ter
NM_001048174.1:c.1143_1144del NP_001041639.1:p.Trp381Ter
NM_001128425.1:c.1227_1228del , LRG_220t1:c.1227_1228del NP_001121897.1:p.Trp409Ter
NM_001293190.1:c.1188_1189del NP_001280119.1:p.Trp396Ter
NM_001293191.1:c.1176_1177del NP_001280120.1:p.Trp392Ter
NM_001293192.1:c.867_868del NP_001280121.1:p.Trp289Ter
NM_001293195.1:c.1143_1144del NP_001280124.1:p.Trp381Ter
NM_001293196.1:c.867_868del NP_001280125.1:p.Trp289Ter
NM_012222.2:c.1218_1219del NP_036354.1:p.Trp406Ter
XM_011541497.1:c.1203_1204del XP_011539799.1:p.Trp401Ter
XM_011541498.1:c.1185_1186del XP_011539800.1:p.Trp395Ter
XM_011541499.1:c.1185_1186del XP_011539801.1:p.Trp395Ter
XM_011541500.1:c.1185_1186del XP_011539802.1:p.Trp395Ter
XM_011541501.1:c.1185_1186del XP_011539803.1:p.Trp395Ter
XM_011541502.1:c.1185_1186del XP_011539804.1:p.Trp395Ter
XM_011541503.1:c.1185_1186del XP_011539805.1:p.Trp395Ter
XM_011541504.1:c.1176_1177del XP_011539806.1:p.Trp392Ter
XM_011541505.1:c.765_766del XP_011539807.1:p.Trp255Ter
XM_011541506.1:c.765_766del XP_011539808.1:p.Trp255Ter
XM_011541507.1:c.756_757del XP_011539809.1:p.Trp252Ter
XM_011541508.1:c.771_772del XP_011539810.1:p.Trp257Ter
XR_946658.1:n.1274_1275del
NM_001350650.1:c.798_799del NP_001337579.1:p.Trp266Ter
NM_001350651.1:c.798_799del NP_001337580.1:p.Trp266Ter
NR_146882.1:n.1401_1402del
NR_146883.1:n.1215_1216del
XM_011541497.3:c.1203_1204del XP_011539799.1:p.Trp401Ter
XM_011541500.3:c.1185_1186del XP_011539802.1:p.Trp395Ter
XM_011541501.2:c.1185_1186del XP_011539803.1:p.Trp395Ter
XM_011541502.2:c.1185_1186del XP_011539804.1:p.Trp395Ter
XM_011541503.2:c.1185_1186del XP_011539805.1:p.Trp395Ter
XM_011541504.2:c.1176_1177del XP_011539806.1:p.Trp392Ter
XM_011541505.2:c.765_766del XP_011539807.1:p.Trp255Ter
XM_011541506.2:c.765_766del XP_011539808.1:p.Trp255Ter
XM_017001331.1:c.1185_1186del XP_016856820.1:p.Trp395Ter
XM_017001332.1:c.1185_1186del XP_016856821.1:p.Trp395Ter
XM_017001333.1:c.1185_1186del XP_016856822.1:p.Trp395Ter
XM_017001334.1:c.1146_1147del XP_016856823.1:p.Trp382Ter
XM_017001335.1:c.867_868del XP_016856824.1:p.Trp289Ter
XM_017001336.1:c.798_799del XP_016856825.1:p.Trp266Ter
XM_017001337.1:c.798_799del XP_016856826.1:p.Trp266Ter
XM_024447244.1:c.798_799del XP_024303012.1:p.Trp266Ter
XM_024447245.1:c.798_799del XP_024303013.1:p.Trp266Ter
XM_024447248.1:c.756_757del XP_024303016.1:p.Trp252Ter
XM_024447249.1:c.627_628del XP_024303017.1:p.Trp209Ter
XM_024447250.1:c.627_628del XP_024303018.1:p.Trp209Ter
XM_024447251.1:c.627_628del XP_024303019.1:p.Trp209Ter
XR_001737190.1:n.1188_1189del
XR_001737192.1:n.1000_1001del
XR_002956643.1:n.1180_1181del
XR_002956644.1:n.1715_1716del
XR_946658.2:n.1288_1289del
NM_001048171.2:c.1143_1144del NP_001041636.2:p.Trp381Ter
NM_001128425.2:c.1227_1228del MANE Plus Clinical NP_001121897.1:p.Trp409Ter
NM_001048172.2:c.1146_1147del NP_001041637.1:p.Trp382Ter
NM_001048173.2:c.1143_1144del NP_001041638.1:p.Trp381Ter
NM_001048174.2:c.1143_1144del MANE Select NP_001041639.1:p.Trp381Ter
NM_001293190.2:c.1188_1189del NP_001280119.1:p.Trp396Ter
NM_001293191.2:c.1176_1177del NP_001280120.1:p.Trp392Ter
NM_001293192.2:c.867_868del NP_001280121.1:p.Trp289Ter
NM_001293195.2:c.1143_1144del NP_001280124.1:p.Trp381Ter
NM_001293196.2:c.867_868del NP_001280125.1:p.Trp289Ter
NM_001350650.2:c.798_799del NP_001337579.1:p.Trp266Ter
NM_001350651.2:c.798_799del NP_001337580.1:p.Trp266Ter
NM_012222.3:c.1218_1219del NP_036354.1:p.Trp406Ter
NR_146882.2:n.1371_1372del
NR_146883.2:n.1220_1221del