Canonical Allele Identifier: CA2582341917

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 2583841
• ClinVar RCV Id: RCV003334763

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331293_45331294del , CM000663.2:g.45331293_45331294del	GRCh38
NC_000001.10:g.45796965_45796966del , CM000663.1:g.45796965_45796966del	GRCh37
NC_000001.9:g.45569552_45569553del	NCBI36
NG_008189.1:g.14180_14181del , LRG_220:g.14180_14181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.899_900del	ENSP00000410263.2:p.Tyr300TrpfsTer?
ENST00000435155.2:c.1316_1317del	ENSP00000403655.2:p.Tyr439TrpfsTer?
ENST00000467459.6:c.*145_*146del	ENSP00000435889.2:n.*145_*146del
ENST00000483127.2:c.1301_1302del	ENSP00000436469.2:p.Tyr434TrpfsTer?
ENST00000485271.6:c.1283_1284del	ENSP00000431264.2:p.Tyr428TrpfsTer?
ENST00000529892.6:c.1136_1137del	ENSP00000432528.2:p.Tyr379TrpfsTer?
ENST00000533178.6:c.*612_*613del	ENSP00000436430.2:n.*612_*613del
ENST00000672314.2:c.1283_1284del	ENSP00000500828.2:p.Tyr428TrpfsTer?
ENST00000710952.2:c.1367_1368del MANE Plus Clinical	ENSP00000518552.2:p.Tyr456TrpfsTer?
ENST00000672818.3:c.1358_1359del	ENSP00000500891.1:p.Tyr453TrpfsTer?
ENST00000456914.7:c.1283_1284del MANE Select	ENSP00000407590.2:p.Tyr428TrpfsTer?
ENST00000671898.1:c.1871_1872del	ENSP00000499896.1:p.Tyr624TrpfsTer?
ENST00000672011.1:c.*612_*613del	ENSP00000500418.1:n.*612_*613del
ENST00000672314.1:c.1283_1284del	ENSP00000500828.1:p.Tyr428TrpfsTer?
ENST00000672818.2:c.1358_1359del	ENSP00000500891.1:p.Tyr453TrpfsTer?
ENST00000673134.1:c.*980_*981del	ENSP00000500526.1:n.*980_*981del
ENST00000354383.10:c.1286_1287del	ENSP00000346354.6:p.Tyr429TrpfsTer?
ENST00000355498.6:c.1283_1284del	ENSP00000347685.2:p.Tyr428TrpfsTer?
ENST00000372098.7:c.1358_1359del	ENSP00000361170.3:p.Tyr453TrpfsTer?
ENST00000372104.5:c.1283_1284del	ENSP00000361176.1:p.Tyr428TrpfsTer?
ENST00000372110.7:c.1328_1329del	ENSP00000361182.3:p.Tyr443TrpfsTer?
ENST00000372115.7:c.1325_1326del	ENSP00000361187.3:p.Tyr442TrpfsTer?
ENST00000448481.5:c.1316_1317del	ENSP00000409718.1:p.Tyr439TrpfsTer?
ENST00000450313.5:c.1367_1368del	ENSP00000408176.1:p.Tyr456TrpfsTer?
ENST00000456914.6:c.1283_1284del	ENSP00000407590.2:p.Tyr428TrpfsTer?
ENST00000467459.5:c.700_701del	ENSP00000435889.1:n.700_701del
ENST00000475516.5:c.*1096_*1097del	ENSP00000433843.1:n.*1096_*1097del
ENST00000481571.5:c.*1096_*1097del	ENSP00000436597.1:n.*1096_*1097del
ENST00000482094.5:n.604_605del
ENST00000488731.6:c.368_369del	ENSP00000432330.1:p.Tyr123TrpfsTer?
ENST00000528013.6:c.1325_1326del	ENSP00000433130.2:p.Tyr442TrpfsTer?
ENST00000529892.5:c.358_359del
ENST00000529984.5:c.368_369del	ENSP00000437093.1:p.Tyr123TrpfsTer?
ENST00000531105.5:c.116-1854_116-1853del	ENSP00000431292.1:n.116-1854_116-1853del
ENST00000533178.5:c.912_913del	ENSP00000436430.1:n.912_913del
NM_001048171.1:c.1325_1326del	NP_001041636.1:p.Tyr442TrpfsTer?
NM_001048172.1:c.1286_1287del	NP_001041637.1:p.Tyr429TrpfsTer?
NM_001048173.1:c.1283_1284del	NP_001041638.1:p.Tyr428TrpfsTer?
NM_001048174.1:c.1283_1284del	NP_001041639.1:p.Tyr428TrpfsTer?
NM_001128425.1:c.1367_1368del , LRG_220t1:c.1367_1368del	NP_001121897.1:p.Tyr456TrpfsTer?
NM_001293190.1:c.1328_1329del	NP_001280119.1:p.Tyr443TrpfsTer?
NM_001293191.1:c.1316_1317del	NP_001280120.1:p.Tyr439TrpfsTer?
NM_001293192.1:c.1007_1008del	NP_001280121.1:p.Tyr336TrpfsTer?
NM_001293195.1:c.1283_1284del	NP_001280124.1:p.Tyr428TrpfsTer?
NM_001293196.1:c.1007_1008del	NP_001280125.1:p.Tyr336TrpfsTer?
NM_012222.2:c.1358_1359del	NP_036354.1:p.Tyr453TrpfsTer?
XM_011541497.1:c.1343_1344del	XP_011539799.1:p.Tyr448TrpfsTer?
XM_011541498.1:c.1325_1326del	XP_011539800.1:p.Tyr442TrpfsTer?
XM_011541499.1:c.1325_1326del	XP_011539801.1:p.Tyr442TrpfsTer?
XM_011541500.1:c.1325_1326del	XP_011539802.1:p.Tyr442TrpfsTer?
XM_011541501.1:c.1325_1326del	XP_011539803.1:p.Tyr442TrpfsTer?
XM_011541502.1:c.1325_1326del	XP_011539804.1:p.Tyr442TrpfsTer?
XM_011541503.1:c.1325_1326del	XP_011539805.1:p.Tyr442TrpfsTer?
XM_011541504.1:c.1316_1317del	XP_011539806.1:p.Tyr439TrpfsTer?
XM_011541505.1:c.905_906del	XP_011539807.1:p.Tyr302TrpfsTer?
XM_011541506.1:c.905_906del	XP_011539808.1:p.Tyr302TrpfsTer?
XM_011541507.1:c.896_897del	XP_011539809.1:p.Tyr299TrpfsTer?
XM_011541508.1:c.911_912del	XP_011539810.1:p.Tyr304TrpfsTer?
XR_946658.1:n.1414_1415del
NM_001350650.1:c.938_939del	NP_001337579.1:p.Tyr313TrpfsTer?
NM_001350651.1:c.938_939del	NP_001337580.1:p.Tyr313TrpfsTer?
NR_146882.1:n.1541_1542del
NR_146883.1:n.1355_1356del
XM_011541497.3:c.1343_1344del	XP_011539799.1:p.Tyr448TrpfsTer?
XM_011541500.3:c.1325_1326del	XP_011539802.1:p.Tyr442TrpfsTer?
XM_011541501.2:c.1325_1326del	XP_011539803.1:p.Tyr442TrpfsTer?
XM_011541502.2:c.1325_1326del	XP_011539804.1:p.Tyr442TrpfsTer?
XM_011541503.2:c.1325_1326del	XP_011539805.1:p.Tyr442TrpfsTer?
XM_011541504.2:c.1316_1317del	XP_011539806.1:p.Tyr439TrpfsTer?
XM_011541505.2:c.905_906del	XP_011539807.1:p.Tyr302TrpfsTer?
XM_011541506.2:c.905_906del	XP_011539808.1:p.Tyr302TrpfsTer?
XM_017001331.1:c.1325_1326del	XP_016856820.1:p.Tyr442TrpfsTer?
XM_017001332.1:c.1325_1326del	XP_016856821.1:p.Tyr442TrpfsTer?
XM_017001333.1:c.1325_1326del	XP_016856822.1:p.Tyr442TrpfsTer?
XM_017001334.1:c.1286_1287del	XP_016856823.1:p.Tyr429TrpfsTer?
XM_017001335.1:c.1007_1008del	XP_016856824.1:p.Tyr336TrpfsTer?
XM_017001336.1:c.938_939del	XP_016856825.1:p.Tyr313TrpfsTer?
XM_017001337.1:c.938_939del	XP_016856826.1:p.Tyr313TrpfsTer?
XM_024447244.1:c.938_939del	XP_024303012.1:p.Tyr313TrpfsTer?
XM_024447245.1:c.938_939del	XP_024303013.1:p.Tyr313TrpfsTer?
XM_024447248.1:c.896_897del	XP_024303016.1:p.Tyr299TrpfsTer?
XM_024447249.1:c.767_768del	XP_024303017.1:p.Tyr256TrpfsTer?
XM_024447250.1:c.767_768del	XP_024303018.1:p.Tyr256TrpfsTer?
XM_024447251.1:c.767_768del	XP_024303019.1:p.Tyr256TrpfsTer?
XR_001737190.1:n.1328_1329del
XR_001737192.1:n.1140_1141del
XR_002956643.1:n.1320_1321del
XR_002956644.1:n.1855_1856del
XR_946658.2:n.1428_1429del
NM_001048171.2:c.1283_1284del	NP_001041636.2:p.Tyr428TrpfsTer?
NM_001128425.2:c.1367_1368del MANE Plus Clinical	NP_001121897.1:p.Tyr456TrpfsTer?
NM_001048172.2:c.1286_1287del	NP_001041637.1:p.Tyr429TrpfsTer?
NM_001048173.2:c.1283_1284del	NP_001041638.1:p.Tyr428TrpfsTer?
NM_001048174.2:c.1283_1284del MANE Select	NP_001041639.1:p.Tyr428TrpfsTer?
NM_001293190.2:c.1328_1329del	NP_001280119.1:p.Tyr443TrpfsTer?
NM_001293191.2:c.1316_1317del	NP_001280120.1:p.Tyr439TrpfsTer?
NM_001293192.2:c.1007_1008del	NP_001280121.1:p.Tyr336TrpfsTer?
NM_001293195.2:c.1283_1284del	NP_001280124.1:p.Tyr428TrpfsTer?
NM_001293196.2:c.1007_1008del	NP_001280125.1:p.Tyr336TrpfsTer?
NM_001350650.2:c.938_939del	NP_001337579.1:p.Tyr313TrpfsTer?
NM_001350651.2:c.938_939del	NP_001337580.1:p.Tyr313TrpfsTer?
NM_012222.3:c.1358_1359del	NP_036354.1:p.Tyr453TrpfsTer?
NR_146882.2:n.1511_1512del
NR_146883.2:n.1360_1361del