Canonical Allele Identifier: CA2573132016

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 1494850
• ClinVar RCV Id: RCV001999028
• dbSNP Id: rs2149112658

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331251_45331252del , CM000663.2:g.45331251_45331252del	GRCh38
NC_000001.10:g.45796923_45796924del , CM000663.1:g.45796923_45796924del	GRCh37
NC_000001.9:g.45569510_45569511del	NCBI36
NG_008189.1:g.14219_14220del , LRG_220:g.14219_14220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.938_939del	ENSP00000410263.2:p.Val313AlafsTer?
ENST00000435155.2:c.1355_1356del	ENSP00000403655.2:p.Val452AlafsTer?
ENST00000467459.6:c.*184_*185del	ENSP00000435889.2:n.*184_*185del
ENST00000483127.2:c.1340_1341del	ENSP00000436469.2:p.Val447AlafsTer?
ENST00000485271.6:c.1322_1323del	ENSP00000431264.2:p.Val441AlafsTer?
ENST00000529892.6:c.1175_1176del	ENSP00000432528.2:p.Val392AlafsTer?
ENST00000533178.6:c.*651_*652del	ENSP00000436430.2:n.*651_*652del
ENST00000672314.2:c.1322_1323del	ENSP00000500828.2:p.Val441AlafsTer?
ENST00000710952.2:c.1406_1407del MANE Plus Clinical	ENSP00000518552.2:p.Val469AlafsTer?
ENST00000672818.3:c.1397_1398del	ENSP00000500891.1:p.Val466AlafsTer?
ENST00000456914.7:c.1322_1323del MANE Select	ENSP00000407590.2:p.Val441AlafsTer?
ENST00000671898.1:c.1910_1911del	ENSP00000499896.1:p.Val637AlafsTer?
ENST00000672011.1:c.*651_*652del	ENSP00000500418.1:n.*651_*652del
ENST00000672314.1:c.1322_1323del	ENSP00000500828.1:p.Val441AlafsTer?
ENST00000672818.2:c.1397_1398del	ENSP00000500891.1:p.Val466AlafsTer?
ENST00000673134.1:c.*1019_*1020del	ENSP00000500526.1:n.*1019_*1020del
ENST00000354383.10:c.1325_1326del	ENSP00000346354.6:p.Val442AlafsTer?
ENST00000355498.6:c.1322_1323del	ENSP00000347685.2:p.Val441AlafsTer?
ENST00000372098.7:c.1397_1398del	ENSP00000361170.3:p.Val466AlafsTer?
ENST00000372104.5:c.1322_1323del	ENSP00000361176.1:p.Val441AlafsTer?
ENST00000372110.7:c.1367_1368del	ENSP00000361182.3:p.Val456AlafsTer?
ENST00000372115.7:c.1364_1365del	ENSP00000361187.3:p.Val455AlafsTer?
ENST00000448481.5:c.1355_1356del	ENSP00000409718.1:p.Val452AlafsTer?
ENST00000450313.5:c.1406_1407del	ENSP00000408176.1:p.Val469AlafsTer?
ENST00000456914.6:c.1322_1323del	ENSP00000407590.2:p.Val441AlafsTer?
ENST00000467459.5:c.739_740del	ENSP00000435889.1:n.739_740del
ENST00000475516.5:c.*1135_*1136del	ENSP00000433843.1:n.*1135_*1136del
ENST00000481571.5:c.*1135_*1136del	ENSP00000436597.1:n.*1135_*1136del
ENST00000482094.5:n.643_644del
ENST00000485271.5:c.19_20del
ENST00000488731.6:c.407_408del	ENSP00000432330.1:p.Val136AlafsTer?
ENST00000528013.6:c.1364_1365del	ENSP00000433130.2:p.Val455AlafsTer?
ENST00000529892.5:c.397_398del
ENST00000529984.5:c.407_408del	ENSP00000437093.1:p.Val136AlafsTer?
ENST00000531105.5:c.116-1815_116-1814del	ENSP00000431292.1:n.116-1815_116-1814del
ENST00000533178.5:c.951_952del	ENSP00000436430.1:n.951_952del
NM_001048171.1:c.1364_1365del	NP_001041636.1:p.Val455AlafsTer?
NM_001048172.1:c.1325_1326del	NP_001041637.1:p.Val442AlafsTer?
NM_001048173.1:c.1322_1323del	NP_001041638.1:p.Val441AlafsTer?
NM_001048174.1:c.1322_1323del	NP_001041639.1:p.Val441AlafsTer?
NM_001128425.1:c.1406_1407del , LRG_220t1:c.1406_1407del	NP_001121897.1:p.Val469AlafsTer?
NM_001293190.1:c.1367_1368del	NP_001280119.1:p.Val456AlafsTer?
NM_001293191.1:c.1355_1356del	NP_001280120.1:p.Val452AlafsTer?
NM_001293192.1:c.1046_1047del	NP_001280121.1:p.Val349AlafsTer?
NM_001293195.1:c.1322_1323del	NP_001280124.1:p.Val441AlafsTer?
NM_001293196.1:c.1046_1047del	NP_001280125.1:p.Val349AlafsTer?
NM_012222.2:c.1397_1398del	NP_036354.1:p.Val466AlafsTer?
XM_011541497.1:c.1382_1383del	XP_011539799.1:p.Val461AlafsTer?
XM_011541498.1:c.1364_1365del	XP_011539800.1:p.Val455AlafsTer?
XM_011541499.1:c.1364_1365del	XP_011539801.1:p.Val455AlafsTer?
XM_011541500.1:c.1364_1365del	XP_011539802.1:p.Val455AlafsTer?
XM_011541501.1:c.1364_1365del	XP_011539803.1:p.Val455AlafsTer?
XM_011541502.1:c.1364_1365del	XP_011539804.1:p.Val455AlafsTer?
XM_011541503.1:c.1364_1365del	XP_011539805.1:p.Val455AlafsTer?
XM_011541504.1:c.1355_1356del	XP_011539806.1:p.Val452AlafsTer?
XM_011541505.1:c.944_945del	XP_011539807.1:p.Val315AlafsTer?
XM_011541506.1:c.944_945del	XP_011539808.1:p.Val315AlafsTer?
XM_011541507.1:c.935_936del	XP_011539809.1:p.Val312AlafsTer?
XM_011541508.1:c.950_951del	XP_011539810.1:p.Val317AlafsTer?
XR_946658.1:n.1453_1454del
NM_001350650.1:c.977_978del	NP_001337579.1:p.Val326AlafsTer?
NM_001350651.1:c.977_978del	NP_001337580.1:p.Val326AlafsTer?
NR_146882.1:n.1580_1581del
NR_146883.1:n.1394_1395del
XM_011541497.3:c.1382_1383del	XP_011539799.1:p.Val461AlafsTer?
XM_011541500.3:c.1364_1365del	XP_011539802.1:p.Val455AlafsTer?
XM_011541501.2:c.1364_1365del	XP_011539803.1:p.Val455AlafsTer?
XM_011541502.2:c.1364_1365del	XP_011539804.1:p.Val455AlafsTer?
XM_011541503.2:c.1364_1365del	XP_011539805.1:p.Val455AlafsTer?
XM_011541504.2:c.1355_1356del	XP_011539806.1:p.Val452AlafsTer?
XM_011541505.2:c.944_945del	XP_011539807.1:p.Val315AlafsTer?
XM_011541506.2:c.944_945del	XP_011539808.1:p.Val315AlafsTer?
XM_017001331.1:c.1364_1365del	XP_016856820.1:p.Val455AlafsTer?
XM_017001332.1:c.1364_1365del	XP_016856821.1:p.Val455AlafsTer?
XM_017001333.1:c.1364_1365del	XP_016856822.1:p.Val455AlafsTer?
XM_017001334.1:c.1325_1326del	XP_016856823.1:p.Val442AlafsTer?
XM_017001335.1:c.1046_1047del	XP_016856824.1:p.Val349AlafsTer?
XM_017001336.1:c.977_978del	XP_016856825.1:p.Val326AlafsTer?
XM_017001337.1:c.977_978del	XP_016856826.1:p.Val326AlafsTer?
XM_024447244.1:c.977_978del	XP_024303012.1:p.Val326AlafsTer?
XM_024447245.1:c.977_978del	XP_024303013.1:p.Val326AlafsTer?
XM_024447248.1:c.935_936del	XP_024303016.1:p.Val312AlafsTer?
XM_024447249.1:c.806_807del	XP_024303017.1:p.Val269AlafsTer?
XM_024447250.1:c.806_807del	XP_024303018.1:p.Val269AlafsTer?
XM_024447251.1:c.806_807del	XP_024303019.1:p.Val269AlafsTer?
XR_001737190.1:n.1367_1368del
XR_001737192.1:n.1179_1180del
XR_002956643.1:n.1359_1360del
XR_002956644.1:n.1894_1895del
XR_946658.2:n.1467_1468del
NM_001048171.2:c.1322_1323del	NP_001041636.2:p.Val441AlafsTer?
NM_001128425.2:c.1406_1407del MANE Plus Clinical	NP_001121897.1:p.Val469AlafsTer?
NM_001048172.2:c.1325_1326del	NP_001041637.1:p.Val442AlafsTer?
NM_001048173.2:c.1322_1323del	NP_001041638.1:p.Val441AlafsTer?
NM_001048174.2:c.1322_1323del MANE Select	NP_001041639.1:p.Val441AlafsTer?
NM_001293190.2:c.1367_1368del	NP_001280119.1:p.Val456AlafsTer?
NM_001293191.2:c.1355_1356del	NP_001280120.1:p.Val452AlafsTer?
NM_001293192.2:c.1046_1047del	NP_001280121.1:p.Val349AlafsTer?
NM_001293195.2:c.1322_1323del	NP_001280124.1:p.Val441AlafsTer?
NM_001293196.2:c.1046_1047del	NP_001280125.1:p.Val349AlafsTer?
NM_001350650.2:c.977_978del	NP_001337579.1:p.Val326AlafsTer?
NM_001350651.2:c.977_978del	NP_001337580.1:p.Val326AlafsTer?
NM_012222.3:c.1397_1398del	NP_036354.1:p.Val466AlafsTer?
NR_146882.2:n.1550_1551del
NR_146883.2:n.1399_1400del