Canonical Allele Identifier: CA913187517

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 630872
• ClinVar RCV Id: RCV000776886 ; RCV001347176
• dbSNP Id: rs1557444203

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45329365_45329367del , CM000663.2:g.45329365_45329367del	GRCh38
NC_000001.10:g.45795037_45795039del , CM000663.1:g.45795037_45795039del	GRCh37
NC_000001.9:g.45567624_45567626del	NCBI36
NG_008189.1:g.16106_16108del , LRG_220:g.16106_16108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.1123_1125del	ENSP00000410263.2:p.Asn375del
ENST00000435155.2:c.1540_1542del	ENSP00000403655.2:p.Asn514del
ENST00000467459.6:c.*369_*371del	ENSP00000435889.2:n.*369_*371del
ENST00000483127.2:c.1525_1527del	ENSP00000436469.2:p.Asn509del
ENST00000485271.6:c.*250_*252del	ENSP00000431264.2:n.*250_*252del
ENST00000529892.6:c.1360_1362del	ENSP00000432528.2:p.Asn454del
ENST00000533178.6:c.*836_*838del	ENSP00000436430.2:n.*836_*838del
ENST00000672314.2:c.1507_1509del	ENSP00000500828.2:p.Asn503del
ENST00000710952.2:c.1591_1593del MANE Plus Clinical	ENSP00000518552.2:p.Asn531del
ENST00000672818.3:c.1582_1584del	ENSP00000500891.1:p.Asn528del
ENST00000456914.7:c.1507_1509del MANE Select	ENSP00000407590.2:p.Asn503del
ENST00000671898.1:c.*250_*252del	ENSP00000499896.1:n.*250_*252del
ENST00000672011.1:c.*836_*838del	ENSP00000500418.1:n.*836_*838del
ENST00000672818.2:c.1582_1584del	ENSP00000500891.1:p.Asn528del
ENST00000354383.10:c.1510_1512del	ENSP00000346354.6:p.Asn504del
ENST00000355498.6:c.1507_1509del	ENSP00000347685.2:p.Asn503del
ENST00000372098.7:c.1582_1584del	ENSP00000361170.3:p.Asn528del
ENST00000372104.5:c.1507_1509del	ENSP00000361176.1:p.Asn503del
ENST00000372110.7:c.1552_1554del	ENSP00000361182.3:p.Asn518del
ENST00000372115.7:c.1549_1551del	ENSP00000361187.3:p.Asn517del
ENST00000448481.5:c.1540_1542del	ENSP00000409718.1:p.Asn514del
ENST00000450313.5:c.1591_1593del	ENSP00000408176.1:p.Asn531del
ENST00000456914.6:c.1507_1509del	ENSP00000407590.2:p.Asn503del
ENST00000467459.5:c.924_926del	ENSP00000435889.1:n.924_926del
ENST00000475516.5:c.*1320_*1322del	ENSP00000433843.1:n.*1320_*1322del
ENST00000481571.5:c.*1320_*1322del	ENSP00000436597.1:n.*1320_*1322del
ENST00000482094.5:n.828_830del
ENST00000485271.5:c.384_386del
ENST00000488731.6:c.592_594del	ENSP00000432330.1:p.Asn198del
ENST00000528013.6:c.1549_1551del	ENSP00000433130.2:p.Asn517del
ENST00000529892.5:c.582_584del
ENST00000529984.5:c.592_594del	ENSP00000437093.1:p.Asn198del
ENST00000531105.5:c.188_*1del	ENSP00000431292.1:n.[c.188_*1del;Ter63PheextTer9]
ENST00000533178.5:c.1136_1138del	ENSP00000436430.1:n.1136_1138del
NM_001048171.1:c.1549_1551del	NP_001041636.1:p.Asn517del
NM_001048172.1:c.1510_1512del	NP_001041637.1:p.Asn504del
NM_001048173.1:c.1507_1509del	NP_001041638.1:p.Asn503del
NM_001048174.1:c.1507_1509del	NP_001041639.1:p.Asn503del
NM_001128425.1:c.1591_1593del , LRG_220t1:c.1591_1593del	NP_001121897.1:p.Asn531del
NM_001293190.1:c.1552_1554del	NP_001280119.1:p.Asn518del
NM_001293191.1:c.1540_1542del	NP_001280120.1:p.Asn514del
NM_001293192.1:c.1231_1233del	NP_001280121.1:p.Asn411del
NM_001293195.1:c.1507_1509del	NP_001280124.1:p.Asn503del
NM_001293196.1:c.1231_1233del	NP_001280125.1:p.Asn411del
NM_012222.2:c.1582_1584del	NP_036354.1:p.Asn528del
XM_011541497.1:c.1567_1569del	XP_011539799.1:p.Asn523del
XM_011541498.1:c.1549_1551del	XP_011539800.1:p.Asn517del
XM_011541499.1:c.1549_1551del	XP_011539801.1:p.Asn517del
XM_011541500.1:c.1549_1551del	XP_011539802.1:p.Asn517del
XM_011541501.1:c.1549_1551del	XP_011539803.1:p.Asn517del
XM_011541502.1:c.1549_1551del	XP_011539804.1:p.Asn517del
XM_011541503.1:c.1549_1551del	XP_011539805.1:p.Asn517del
XM_011541504.1:c.1540_1542del	XP_011539806.1:p.Asn514del
XM_011541505.1:c.1129_1131del	XP_011539807.1:p.Asn377del
XM_011541506.1:c.1129_1131del	XP_011539808.1:p.Asn377del
XM_011541507.1:c.1120_1122del	XP_011539809.1:p.Asn374del
XM_011541508.1:c.1135_1137del	XP_011539810.1:p.Asn379del
XR_946658.1:n.1818_1820del
NM_001350650.1:c.1162_1164del	NP_001337579.1:p.Asn388del
NM_001350651.1:c.1162_1164del	NP_001337580.1:p.Asn388del
NR_146882.1:n.1945_1947del
NR_146883.1:n.1759_1761del
XM_011541497.3:c.1567_1569del	XP_011539799.1:p.Asn523del
XM_011541500.3:c.1549_1551del	XP_011539802.1:p.Asn517del
XM_011541501.2:c.1549_1551del	XP_011539803.1:p.Asn517del
XM_011541502.2:c.1549_1551del	XP_011539804.1:p.Asn517del
XM_011541503.2:c.1549_1551del	XP_011539805.1:p.Asn517del
XM_011541504.2:c.1540_1542del	XP_011539806.1:p.Asn514del
XM_011541505.2:c.1129_1131del	XP_011539807.1:p.Asn377del
XM_011541506.2:c.1129_1131del	XP_011539808.1:p.Asn377del
XM_017001331.1:c.1549_1551del	XP_016856820.1:p.Asn517del
XM_017001332.1:c.1549_1551del	XP_016856821.1:p.Asn517del
XM_017001333.1:c.1549_1551del	XP_016856822.1:p.Asn517del
XM_017001334.1:c.1510_1512del	XP_016856823.1:p.Asn504del
XM_017001335.1:c.1231_1233del	XP_016856824.1:p.Asn411del
XM_017001336.1:c.1162_1164del	XP_016856825.1:p.Asn388del
XM_017001337.1:c.1162_1164del	XP_016856826.1:p.Asn388del
XM_024447244.1:c.1162_1164del	XP_024303012.1:p.Asn388del
XM_024447245.1:c.1162_1164del	XP_024303013.1:p.Asn388del
XM_024447248.1:c.1120_1122del	XP_024303016.1:p.Asn374del
XM_024447249.1:c.991_993del	XP_024303017.1:p.Asn331del
XM_024447250.1:c.991_993del	XP_024303018.1:p.Asn331del
XM_024447251.1:c.991_993del	XP_024303019.1:p.Asn331del
XR_001737190.1:n.1732_1734del
XR_001737192.1:n.1544_1546del
XR_002956643.1:n.1724_1726del
XR_002956644.1:n.2259_2261del
XR_946658.2:n.1832_1834del
NM_001048171.2:c.1507_1509del	NP_001041636.2:p.Asn503del
NM_001128425.2:c.1591_1593del MANE Plus Clinical	NP_001121897.1:p.Asn531del
NM_001048172.2:c.1510_1512del	NP_001041637.1:p.Asn504del
NM_001048173.2:c.1507_1509del	NP_001041638.1:p.Asn503del
NM_001048174.2:c.1507_1509del MANE Select	NP_001041639.1:p.Asn503del
NM_001293190.2:c.1552_1554del	NP_001280119.1:p.Asn518del
NM_001293191.2:c.1540_1542del	NP_001280120.1:p.Asn514del
NM_001293192.2:c.1231_1233del	NP_001280121.1:p.Asn411del
NM_001293195.2:c.1507_1509del	NP_001280124.1:p.Asn503del
NM_001293196.2:c.1231_1233del	NP_001280125.1:p.Asn411del
NM_001350650.2:c.1162_1164del	NP_001337579.1:p.Asn388del
NM_001350651.2:c.1162_1164del	NP_001337580.1:p.Asn388del
NM_012222.3:c.1582_1584del	NP_036354.1:p.Asn528del
NR_146882.2:n.1915_1917del
NR_146883.2:n.1764_1766del