Canonical Allele Identifier: CA21835693

Gene: MUTYH

Linked Data

• dbSNP Id: rs146331482
• MyVariant Identifiers: chr1:g.45796868_45796869insGG (hg19) ; chr1:g.45331196_45331197insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331197_45331198dup , CM000663.2:g.45331197_45331198dup	GRCh38
NC_000001.10:g.45796869_45796870dup , CM000663.1:g.45796869_45796870dup	GRCh37
NC_000001.9:g.45569456_45569457dup	NCBI36
NG_008189.1:g.14273_14274dup , LRG_220:g.14273_14274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.992_993dup	ENSP00000410263.2:p.Thr332ProfsTer4
ENST00000435155.2:c.1409_1410dup	ENSP00000403655.2:p.Thr471ProfsTer4
ENST00000467459.6:c.*238_*239dup	ENSP00000435889.2:n.*238_*239dup
ENST00000483127.2:c.1394_1395dup	ENSP00000436469.2:p.Thr466ProfsTer4
ENST00000485271.6:c.1376_1377dup	ENSP00000431264.2:p.Thr460ProfsTer4
ENST00000529892.6:c.1229_1230dup	ENSP00000432528.2:p.Thr411ProfsTer4
ENST00000533178.6:c.*705_*706dup	ENSP00000436430.2:n.*705_*706dup
ENST00000672314.2:c.1376_1377dup	ENSP00000500828.2:p.Thr460ProfsTer4
ENST00000710952.2:c.1460_1461dup MANE Plus Clinical	ENSP00000518552.2:p.Thr488ProfsTer4
ENST00000672818.3:c.1451_1452dup	ENSP00000500891.1:p.Thr485ProfsTer4
ENST00000456914.7:c.1376_1377dup MANE Select	ENSP00000407590.2:p.Thr460ProfsTer4
ENST00000671898.1:c.1964_1965dup	ENSP00000499896.1:p.Thr656ProfsTer4
ENST00000672011.1:c.*705_*706dup	ENSP00000500418.1:n.*705_*706dup
ENST00000672314.1:c.1376_1377dup	ENSP00000500828.1:p.Thr460ProfsTer4
ENST00000672818.2:c.1451_1452dup	ENSP00000500891.1:p.Thr485ProfsTer4
ENST00000673134.1:c.*1073_*1074dup	ENSP00000500526.1:n.*1073_*1074dup
ENST00000354383.10:c.1379_1380dup	ENSP00000346354.6:p.Thr461ProfsTer4
ENST00000355498.6:c.1376_1377dup	ENSP00000347685.2:p.Thr460ProfsTer4
ENST00000372098.7:c.1451_1452dup	ENSP00000361170.3:p.Thr485ProfsTer4
ENST00000372104.5:c.1376_1377dup	ENSP00000361176.1:p.Thr460ProfsTer4
ENST00000372110.7:c.1421_1422dup	ENSP00000361182.3:p.Thr475ProfsTer4
ENST00000372115.7:c.1418_1419dup	ENSP00000361187.3:p.Thr474ProfsTer4
ENST00000448481.5:c.1409_1410dup	ENSP00000409718.1:p.Thr471ProfsTer4
ENST00000450313.5:c.1460_1461dup	ENSP00000408176.1:p.Thr488ProfsTer4
ENST00000456914.6:c.1376_1377dup	ENSP00000407590.2:p.Thr460ProfsTer4
ENST00000467459.5:c.793_794dup	ENSP00000435889.1:n.793_794dup
ENST00000475516.5:c.*1189_*1190dup	ENSP00000433843.1:n.*1189_*1190dup
ENST00000481571.5:c.*1189_*1190dup	ENSP00000436597.1:n.*1189_*1190dup
ENST00000482094.5:n.697_698dup
ENST00000485271.5:c.73_74dup
ENST00000488731.6:c.461_462dup	ENSP00000432330.1:p.Thr155ProfsTer4
ENST00000528013.6:c.1418_1419dup	ENSP00000433130.2:p.Thr474ProfsTer4
ENST00000529892.5:c.451_452dup
ENST00000529984.5:c.461_462dup	ENSP00000437093.1:p.Thr155ProfsTer4
ENST00000531105.5:c.116-1761_116-1760dup	ENSP00000431292.1:n.116-1761_116-1760dup
ENST00000533178.5:c.1005_1006dup	ENSP00000436430.1:n.1005_1006dup
NM_001048171.1:c.1418_1419dup	NP_001041636.1:p.Thr474ProfsTer4
NM_001048172.1:c.1379_1380dup	NP_001041637.1:p.Thr461ProfsTer4
NM_001048173.1:c.1376_1377dup	NP_001041638.1:p.Thr460ProfsTer4
NM_001048174.1:c.1376_1377dup	NP_001041639.1:p.Thr460ProfsTer4
NM_001128425.1:c.1460_1461dup , LRG_220t1:c.1460_1461dup	NP_001121897.1:p.Thr488ProfsTer4
NM_001293190.1:c.1421_1422dup	NP_001280119.1:p.Thr475ProfsTer4
NM_001293191.1:c.1409_1410dup	NP_001280120.1:p.Thr471ProfsTer4
NM_001293192.1:c.1100_1101dup	NP_001280121.1:p.Thr368ProfsTer4
NM_001293195.1:c.1376_1377dup	NP_001280124.1:p.Thr460ProfsTer4
NM_001293196.1:c.1100_1101dup	NP_001280125.1:p.Thr368ProfsTer4
NM_012222.2:c.1451_1452dup	NP_036354.1:p.Thr485ProfsTer4
XM_011541497.1:c.1436_1437dup	XP_011539799.1:p.Thr480ProfsTer4
XM_011541498.1:c.1418_1419dup	XP_011539800.1:p.Thr474ProfsTer4
XM_011541499.1:c.1418_1419dup	XP_011539801.1:p.Thr474ProfsTer4
XM_011541500.1:c.1418_1419dup	XP_011539802.1:p.Thr474ProfsTer4
XM_011541501.1:c.1418_1419dup	XP_011539803.1:p.Thr474ProfsTer4
XM_011541502.1:c.1418_1419dup	XP_011539804.1:p.Thr474ProfsTer4
XM_011541503.1:c.1418_1419dup	XP_011539805.1:p.Thr474ProfsTer4
XM_011541504.1:c.1409_1410dup	XP_011539806.1:p.Thr471ProfsTer4
XM_011541505.1:c.998_999dup	XP_011539807.1:p.Thr334ProfsTer4
XM_011541506.1:c.998_999dup	XP_011539808.1:p.Thr334ProfsTer4
XM_011541507.1:c.989_990dup	XP_011539809.1:p.Thr331ProfsTer4
XM_011541508.1:c.1004_1005dup	XP_011539810.1:p.Thr336ProfsTer4
XR_946658.1:n.1507_1508dup
NM_001350650.1:c.1031_1032dup	NP_001337579.1:p.Thr345ProfsTer4
NM_001350651.1:c.1031_1032dup	NP_001337580.1:p.Thr345ProfsTer4
NR_146882.1:n.1634_1635dup
NR_146883.1:n.1448_1449dup
XM_011541497.3:c.1436_1437dup	XP_011539799.1:p.Thr480ProfsTer4
XM_011541500.3:c.1418_1419dup	XP_011539802.1:p.Thr474ProfsTer4
XM_011541501.2:c.1418_1419dup	XP_011539803.1:p.Thr474ProfsTer4
XM_011541502.2:c.1418_1419dup	XP_011539804.1:p.Thr474ProfsTer4
XM_011541503.2:c.1418_1419dup	XP_011539805.1:p.Thr474ProfsTer4
XM_011541504.2:c.1409_1410dup	XP_011539806.1:p.Thr471ProfsTer4
XM_011541505.2:c.998_999dup	XP_011539807.1:p.Thr334ProfsTer4
XM_011541506.2:c.998_999dup	XP_011539808.1:p.Thr334ProfsTer4
XM_017001331.1:c.1418_1419dup	XP_016856820.1:p.Thr474ProfsTer4
XM_017001332.1:c.1418_1419dup	XP_016856821.1:p.Thr474ProfsTer4
XM_017001333.1:c.1418_1419dup	XP_016856822.1:p.Thr474ProfsTer4
XM_017001334.1:c.1379_1380dup	XP_016856823.1:p.Thr461ProfsTer4
XM_017001335.1:c.1100_1101dup	XP_016856824.1:p.Thr368ProfsTer4
XM_017001336.1:c.1031_1032dup	XP_016856825.1:p.Thr345ProfsTer4
XM_017001337.1:c.1031_1032dup	XP_016856826.1:p.Thr345ProfsTer4
XM_024447244.1:c.1031_1032dup	XP_024303012.1:p.Thr345ProfsTer4
XM_024447245.1:c.1031_1032dup	XP_024303013.1:p.Thr345ProfsTer4
XM_024447248.1:c.989_990dup	XP_024303016.1:p.Thr331ProfsTer4
XM_024447249.1:c.860_861dup	XP_024303017.1:p.Thr288ProfsTer4
XM_024447250.1:c.860_861dup	XP_024303018.1:p.Thr288ProfsTer4
XM_024447251.1:c.860_861dup	XP_024303019.1:p.Thr288ProfsTer4
XR_001737190.1:n.1421_1422dup
XR_001737192.1:n.1233_1234dup
XR_002956643.1:n.1413_1414dup
XR_002956644.1:n.1948_1949dup
XR_946658.2:n.1521_1522dup
NM_001048171.2:c.1376_1377dup	NP_001041636.2:p.Thr460ProfsTer4
NM_001128425.2:c.1460_1461dup MANE Plus Clinical	NP_001121897.1:p.Thr488ProfsTer4
NM_001048172.2:c.1379_1380dup	NP_001041637.1:p.Thr461ProfsTer4
NM_001048173.2:c.1376_1377dup	NP_001041638.1:p.Thr460ProfsTer4
NM_001048174.2:c.1376_1377dup MANE Select	NP_001041639.1:p.Thr460ProfsTer4
NM_001293190.2:c.1421_1422dup	NP_001280119.1:p.Thr475ProfsTer4
NM_001293191.2:c.1409_1410dup	NP_001280120.1:p.Thr471ProfsTer4
NM_001293192.2:c.1100_1101dup	NP_001280121.1:p.Thr368ProfsTer4
NM_001293195.2:c.1376_1377dup	NP_001280124.1:p.Thr460ProfsTer4
NM_001293196.2:c.1100_1101dup	NP_001280125.1:p.Thr368ProfsTer4
NM_001350650.2:c.1031_1032dup	NP_001337579.1:p.Thr345ProfsTer4
NM_001350651.2:c.1031_1032dup	NP_001337580.1:p.Thr345ProfsTer4
NM_012222.3:c.1451_1452dup	NP_036354.1:p.Thr485ProfsTer4
NR_146882.2:n.1604_1605dup
NR_146883.2:n.1453_1454dup