Canonical Allele Identifier: CA2586964077

Gene: MUTYH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331523_45331524dup , CM000663.2:g.45331523_45331524dup	GRCh38
NC_000001.10:g.45797195_45797196dup , CM000663.1:g.45797195_45797196dup	GRCh37
NC_000001.9:g.45569782_45569783dup	NCBI36
NG_008189.1:g.13948_13949dup , LRG_220:g.13948_13949dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.752_753dup	ENSP00000410263.2:p.Thr252Ter
ENST00000435155.2:c.1169_1170dup	ENSP00000403655.2:p.Thr391Ter
ENST00000467459.6:c.1159_1160dup	ENSP00000435889.2:p.Ter387CysextTer?
ENST00000483127.2:c.1154_1155dup	ENSP00000436469.2:p.Thr386Ter
ENST00000485271.6:c.1136_1137dup	ENSP00000431264.2:p.Thr380Ter
ENST00000529892.6:c.989_990dup	ENSP00000432528.2:p.Thr331Ter
ENST00000533178.6:c.*465_*466dup	ENSP00000436430.2:n.*465_*466dup
ENST00000672314.2:c.1136_1137dup	ENSP00000500828.2:p.Thr380Ter
ENST00000710952.2:c.1220_1221dup MANE Plus Clinical	ENSP00000518552.2:p.Thr408Ter
ENST00000672818.3:c.1211_1212dup	ENSP00000500891.1:p.Thr405Ter
ENST00000456914.7:c.1136_1137dup MANE Select	ENSP00000407590.2:p.Thr380Ter
ENST00000671898.1:c.1724_1725dup	ENSP00000499896.1:p.Thr576Ter
ENST00000672011.1:c.*465_*466dup	ENSP00000500418.1:n.*465_*466dup
ENST00000672314.1:c.1136_1137dup	ENSP00000500828.1:p.Thr380Ter
ENST00000672593.1:c.*1362_*1363dup	ENSP00000500455.1:n.*1362_*1363dup
ENST00000672818.2:c.1211_1212dup	ENSP00000500891.1:p.Thr405Ter
ENST00000673134.1:c.*833_*834dup	ENSP00000500526.1:n.*833_*834dup
ENST00000354383.10:c.1139_1140dup	ENSP00000346354.6:p.Thr381Ter
ENST00000355498.6:c.1136_1137dup	ENSP00000347685.2:p.Thr380Ter
ENST00000372098.7:c.1211_1212dup	ENSP00000361170.3:p.Thr405Ter
ENST00000372104.5:c.1136_1137dup	ENSP00000361176.1:p.Thr380Ter
ENST00000372110.7:c.1181_1182dup	ENSP00000361182.3:p.Thr395Ter
ENST00000372115.7:c.1178_1179dup	ENSP00000361187.3:p.Thr394Ter
ENST00000448481.5:c.1169_1170dup	ENSP00000409718.1:p.Thr391Ter
ENST00000450313.5:c.1220_1221dup	ENSP00000408176.1:p.Thr408Ter
ENST00000456914.6:c.1136_1137dup	ENSP00000407590.2:p.Thr380Ter
ENST00000467459.5:c.553_554dup	ENSP00000435889.1:p.Ter185CysextTer?
ENST00000475516.5:c.*949_*950dup	ENSP00000433843.1:n.*949_*950dup
ENST00000481571.5:c.*949_*950dup	ENSP00000436597.1:n.*949_*950dup
ENST00000482094.5:n.457_458dup
ENST00000488731.6:c.221_222dup	ENSP00000432330.1:p.Thr75Ter
ENST00000528013.6:c.1178_1179dup	ENSP00000433130.2:p.Thr394Ter
ENST00000529892.5:c.211_212dup
ENST00000529984.5:c.221_222dup	ENSP00000437093.1:p.Thr75Ter
ENST00000531105.5:c.116-2086_116-2085dup	ENSP00000431292.1:n.116-2086_116-2085dup
ENST00000533178.5:c.765_766dup	ENSP00000436430.1:n.765_766dup
NM_001048171.1:c.1178_1179dup	NP_001041636.1:p.Thr394Ter
NM_001048172.1:c.1139_1140dup	NP_001041637.1:p.Thr381Ter
NM_001048173.1:c.1136_1137dup	NP_001041638.1:p.Thr380Ter
NM_001048174.1:c.1136_1137dup	NP_001041639.1:p.Thr380Ter
NM_001128425.1:c.1220_1221dup , LRG_220t1:c.1220_1221dup	NP_001121897.1:p.Thr408Ter
NM_001293190.1:c.1181_1182dup	NP_001280119.1:p.Thr395Ter
NM_001293191.1:c.1169_1170dup	NP_001280120.1:p.Thr391Ter
NM_001293192.1:c.860_861dup	NP_001280121.1:p.Thr288Ter
NM_001293195.1:c.1136_1137dup	NP_001280124.1:p.Thr380Ter
NM_001293196.1:c.860_861dup	NP_001280125.1:p.Thr288Ter
NM_012222.2:c.1211_1212dup	NP_036354.1:p.Thr405Ter
XM_011541497.1:c.1196_1197dup	XP_011539799.1:p.Thr400Ter
XM_011541498.1:c.1178_1179dup	XP_011539800.1:p.Thr394Ter
XM_011541499.1:c.1178_1179dup	XP_011539801.1:p.Thr394Ter
XM_011541500.1:c.1178_1179dup	XP_011539802.1:p.Thr394Ter
XM_011541501.1:c.1178_1179dup	XP_011539803.1:p.Thr394Ter
XM_011541502.1:c.1178_1179dup	XP_011539804.1:p.Thr394Ter
XM_011541503.1:c.1178_1179dup	XP_011539805.1:p.Thr394Ter
XM_011541504.1:c.1169_1170dup	XP_011539806.1:p.Thr391Ter
XM_011541505.1:c.758_759dup	XP_011539807.1:p.Thr254Ter
XM_011541506.1:c.758_759dup	XP_011539808.1:p.Thr254Ter
XM_011541507.1:c.749_750dup	XP_011539809.1:p.Thr251Ter
XM_011541508.1:c.764_765dup	XP_011539810.1:p.Thr256Ter
XR_946658.1:n.1267_1268dup
NM_001350650.1:c.791_792dup	NP_001337579.1:p.Thr265Ter
NM_001350651.1:c.791_792dup	NP_001337580.1:p.Thr265Ter
NR_146882.1:n.1394_1395dup
NR_146883.1:n.1208_1209dup
XM_011541497.3:c.1196_1197dup	XP_011539799.1:p.Thr400Ter
XM_011541500.3:c.1178_1179dup	XP_011539802.1:p.Thr394Ter
XM_011541501.2:c.1178_1179dup	XP_011539803.1:p.Thr394Ter
XM_011541502.2:c.1178_1179dup	XP_011539804.1:p.Thr394Ter
XM_011541503.2:c.1178_1179dup	XP_011539805.1:p.Thr394Ter
XM_011541504.2:c.1169_1170dup	XP_011539806.1:p.Thr391Ter
XM_011541505.2:c.758_759dup	XP_011539807.1:p.Thr254Ter
XM_011541506.2:c.758_759dup	XP_011539808.1:p.Thr254Ter
XM_017001331.1:c.1178_1179dup	XP_016856820.1:p.Thr394Ter
XM_017001332.1:c.1178_1179dup	XP_016856821.1:p.Thr394Ter
XM_017001333.1:c.1178_1179dup	XP_016856822.1:p.Thr394Ter
XM_017001334.1:c.1139_1140dup	XP_016856823.1:p.Thr381Ter
XM_017001335.1:c.860_861dup	XP_016856824.1:p.Thr288Ter
XM_017001336.1:c.791_792dup	XP_016856825.1:p.Thr265Ter
XM_017001337.1:c.791_792dup	XP_016856826.1:p.Thr265Ter
XM_024447244.1:c.791_792dup	XP_024303012.1:p.Thr265Ter
XM_024447245.1:c.791_792dup	XP_024303013.1:p.Thr265Ter
XM_024447248.1:c.749_750dup	XP_024303016.1:p.Thr251Ter
XM_024447249.1:c.620_621dup	XP_024303017.1:p.Thr208Ter
XM_024447250.1:c.620_621dup	XP_024303018.1:p.Thr208Ter
XM_024447251.1:c.620_621dup	XP_024303019.1:p.Thr208Ter
XR_001737190.1:n.1181_1182dup
XR_001737192.1:n.993_994dup
XR_002956643.1:n.1173_1174dup
XR_002956644.1:n.1708_1709dup
XR_946658.2:n.1281_1282dup
NM_001048171.2:c.1136_1137dup	NP_001041636.2:p.Thr380Ter
NM_001128425.2:c.1220_1221dup MANE Plus Clinical	NP_001121897.1:p.Thr408Ter
NM_001048172.2:c.1139_1140dup	NP_001041637.1:p.Thr381Ter
NM_001048173.2:c.1136_1137dup	NP_001041638.1:p.Thr380Ter
NM_001048174.2:c.1136_1137dup MANE Select	NP_001041639.1:p.Thr380Ter
NM_001293190.2:c.1181_1182dup	NP_001280119.1:p.Thr395Ter
NM_001293191.2:c.1169_1170dup	NP_001280120.1:p.Thr391Ter
NM_001293192.2:c.860_861dup	NP_001280121.1:p.Thr288Ter
NM_001293195.2:c.1136_1137dup	NP_001280124.1:p.Thr380Ter
NM_001293196.2:c.860_861dup	NP_001280125.1:p.Thr288Ter
NM_001350650.2:c.791_792dup	NP_001337579.1:p.Thr265Ter
NM_001350651.2:c.791_792dup	NP_001337580.1:p.Thr265Ter
NM_012222.3:c.1211_1212dup	NP_036354.1:p.Thr405Ter
NR_146882.2:n.1364_1365dup
NR_146883.2:n.1213_1214dup