Canonical Allele Identifier: CA2697552381
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 2773681
ClinVar RCV Id: RCV003585654

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331442_45331456del , CM000663.2:g.45331442_45331456del GRCh38
NC_000001.10:g.45797114_45797128del , CM000663.1:g.45797114_45797128del GRCh37
NC_000001.9:g.45569701_45569715del NCBI36
NG_008189.1:g.14017_14031del , LRG_220:g.14017_14031del

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.821_835del ENSP00000410263.2:p.Pro274_Thr278del
ENST00000435155.2:c.1238_1252del ENSP00000403655.2:p.Pro413_Thr417del
ENST00000467459.6:c.*67_*81del ENSP00000435889.2:n.*67_*81del
ENST00000483127.2:c.1223_1237del ENSP00000436469.2:p.Pro408_Thr412del
ENST00000485271.6:c.1205_1219del ENSP00000431264.2:p.Pro402_Thr406del
ENST00000529892.6:c.1058_1072del ENSP00000432528.2:p.Pro353_Thr357del
ENST00000533178.6:c.*534_*548del ENSP00000436430.2:n.*534_*548del
ENST00000672314.2:c.1205_1219del ENSP00000500828.2:p.Pro402_Thr406del
ENST00000710952.2:c.1289_1303del MANE Plus Clinical ENSP00000518552.2:p.Pro430_Thr434del
ENST00000672818.3:c.1280_1294del ENSP00000500891.1:p.Pro427_Thr431del
ENST00000456914.7:c.1205_1219del MANE Select ENSP00000407590.2:p.Pro402_Thr406del
ENST00000671898.1:c.1793_1807del ENSP00000499896.1:p.Pro598_Thr602del
ENST00000672011.1:c.*534_*548del ENSP00000500418.1:n.*534_*548del
ENST00000672314.1:c.1205_1219del ENSP00000500828.1:p.Pro402_Thr406del
ENST00000672593.1:c.*1431_*1445del ENSP00000500455.1:n.*1431_*1445del
ENST00000672818.2:c.1280_1294del ENSP00000500891.1:p.Pro427_Thr431del
ENST00000673134.1:c.*902_*916del ENSP00000500526.1:n.*902_*916del
ENST00000354383.10:c.1208_1222del ENSP00000346354.6:p.Pro403_Thr407del
ENST00000355498.6:c.1205_1219del ENSP00000347685.2:p.Pro402_Thr406del
ENST00000372098.7:c.1280_1294del ENSP00000361170.3:p.Pro427_Thr431del
ENST00000372104.5:c.1205_1219del ENSP00000361176.1:p.Pro402_Thr406del
ENST00000372110.7:c.1250_1264del ENSP00000361182.3:p.Pro417_Thr421del
ENST00000372115.7:c.1247_1261del ENSP00000361187.3:p.Pro416_Thr420del
ENST00000448481.5:c.1238_1252del ENSP00000409718.1:p.Pro413_Thr417del
ENST00000450313.5:c.1289_1303del ENSP00000408176.1:p.Pro430_Thr434del
ENST00000456914.6:c.1205_1219del ENSP00000407590.2:p.Pro402_Thr406del
ENST00000467459.5:c.622_636del ENSP00000435889.1:n.622_636del
ENST00000475516.5:c.*1018_*1032del ENSP00000433843.1:n.*1018_*1032del
ENST00000481571.5:c.*1018_*1032del ENSP00000436597.1:n.*1018_*1032del
ENST00000482094.5:n.526_540del
ENST00000488731.6:c.290_304del ENSP00000432330.1:p.Pro97_Thr101del
ENST00000528013.6:c.1247_1261del ENSP00000433130.2:p.Pro416_Thr420del
ENST00000529892.5:c.280_294del
ENST00000529984.5:c.290_304del ENSP00000437093.1:p.Pro97_Thr101del
ENST00000531105.5:c.116-2017_116-2003del ENSP00000431292.1:n.116-2017_116-2003del
ENST00000533178.5:c.834_848del ENSP00000436430.1:n.834_848del
NM_001048171.1:c.1247_1261del NP_001041636.1:p.Pro416_Thr420del
NM_001048172.1:c.1208_1222del NP_001041637.1:p.Pro403_Thr407del
NM_001048173.1:c.1205_1219del NP_001041638.1:p.Pro402_Thr406del
NM_001048174.1:c.1205_1219del NP_001041639.1:p.Pro402_Thr406del
NM_001128425.1:c.1289_1303del , LRG_220t1:c.1289_1303del NP_001121897.1:p.Pro430_Thr434del
NM_001293190.1:c.1250_1264del NP_001280119.1:p.Pro417_Thr421del
NM_001293191.1:c.1238_1252del NP_001280120.1:p.Pro413_Thr417del
NM_001293192.1:c.929_943del NP_001280121.1:p.Pro310_Thr314del
NM_001293195.1:c.1205_1219del NP_001280124.1:p.Pro402_Thr406del
NM_001293196.1:c.929_943del NP_001280125.1:p.Pro310_Thr314del
NM_012222.2:c.1280_1294del NP_036354.1:p.Pro427_Thr431del
XM_011541497.1:c.1265_1279del XP_011539799.1:p.Pro422_Thr426del
XM_011541498.1:c.1247_1261del XP_011539800.1:p.Pro416_Thr420del
XM_011541499.1:c.1247_1261del XP_011539801.1:p.Pro416_Thr420del
XM_011541500.1:c.1247_1261del XP_011539802.1:p.Pro416_Thr420del
XM_011541501.1:c.1247_1261del XP_011539803.1:p.Pro416_Thr420del
XM_011541502.1:c.1247_1261del XP_011539804.1:p.Pro416_Thr420del
XM_011541503.1:c.1247_1261del XP_011539805.1:p.Pro416_Thr420del
XM_011541504.1:c.1238_1252del XP_011539806.1:p.Pro413_Thr417del
XM_011541505.1:c.827_841del XP_011539807.1:p.Pro276_Thr280del
XM_011541506.1:c.827_841del XP_011539808.1:p.Pro276_Thr280del
XM_011541507.1:c.818_832del XP_011539809.1:p.Pro273_Thr277del
XM_011541508.1:c.833_847del XP_011539810.1:p.Pro278_Thr282del
XR_946658.1:n.1336_1350del
NM_001350650.1:c.860_874del NP_001337579.1:p.Pro287_Thr291del
NM_001350651.1:c.860_874del NP_001337580.1:p.Pro287_Thr291del
NR_146882.1:n.1463_1477del
NR_146883.1:n.1277_1291del
XM_011541497.3:c.1265_1279del XP_011539799.1:p.Pro422_Thr426del
XM_011541500.3:c.1247_1261del XP_011539802.1:p.Pro416_Thr420del
XM_011541501.2:c.1247_1261del XP_011539803.1:p.Pro416_Thr420del
XM_011541502.2:c.1247_1261del XP_011539804.1:p.Pro416_Thr420del
XM_011541503.2:c.1247_1261del XP_011539805.1:p.Pro416_Thr420del
XM_011541504.2:c.1238_1252del XP_011539806.1:p.Pro413_Thr417del
XM_011541505.2:c.827_841del XP_011539807.1:p.Pro276_Thr280del
XM_011541506.2:c.827_841del XP_011539808.1:p.Pro276_Thr280del
XM_017001331.1:c.1247_1261del XP_016856820.1:p.Pro416_Thr420del
XM_017001332.1:c.1247_1261del XP_016856821.1:p.Pro416_Thr420del
XM_017001333.1:c.1247_1261del XP_016856822.1:p.Pro416_Thr420del
XM_017001334.1:c.1208_1222del XP_016856823.1:p.Pro403_Thr407del
XM_017001335.1:c.929_943del XP_016856824.1:p.Pro310_Thr314del
XM_017001336.1:c.860_874del XP_016856825.1:p.Pro287_Thr291del
XM_017001337.1:c.860_874del XP_016856826.1:p.Pro287_Thr291del
XM_024447244.1:c.860_874del XP_024303012.1:p.Pro287_Thr291del
XM_024447245.1:c.860_874del XP_024303013.1:p.Pro287_Thr291del
XM_024447248.1:c.818_832del XP_024303016.1:p.Pro273_Thr277del
XM_024447249.1:c.689_703del XP_024303017.1:p.Pro230_Thr234del
XM_024447250.1:c.689_703del XP_024303018.1:p.Pro230_Thr234del
XM_024447251.1:c.689_703del XP_024303019.1:p.Pro230_Thr234del
XR_001737190.1:n.1250_1264del
XR_001737192.1:n.1062_1076del
XR_002956643.1:n.1242_1256del
XR_002956644.1:n.1777_1791del
XR_946658.2:n.1350_1364del
NM_001048171.2:c.1205_1219del NP_001041636.2:p.Pro402_Thr406del
NM_001128425.2:c.1289_1303del MANE Plus Clinical NP_001121897.1:p.Pro430_Thr434del
NM_001048172.2:c.1208_1222del NP_001041637.1:p.Pro403_Thr407del
NM_001048173.2:c.1205_1219del NP_001041638.1:p.Pro402_Thr406del
NM_001048174.2:c.1205_1219del MANE Select NP_001041639.1:p.Pro402_Thr406del
NM_001293190.2:c.1250_1264del NP_001280119.1:p.Pro417_Thr421del
NM_001293191.2:c.1238_1252del NP_001280120.1:p.Pro413_Thr417del
NM_001293192.2:c.929_943del NP_001280121.1:p.Pro310_Thr314del
NM_001293195.2:c.1205_1219del NP_001280124.1:p.Pro402_Thr406del
NM_001293196.2:c.929_943del NP_001280125.1:p.Pro310_Thr314del
NM_001350650.2:c.860_874del NP_001337579.1:p.Pro287_Thr291del
NM_001350651.2:c.860_874del NP_001337580.1:p.Pro287_Thr291del
NM_012222.3:c.1280_1294del NP_036354.1:p.Pro427_Thr431del
NR_146882.2:n.1433_1447del
NR_146883.2:n.1282_1296del