Canonical Allele Identifier: CA2499214760

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 1062573
• ClinVar RCV Id: RCV001372308
• dbSNP Id: rs2149120850

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331521_45331526del , CM000663.2:g.45331521_45331526del	GRCh38
NC_000001.10:g.45797193_45797198del , CM000663.1:g.45797193_45797198del	GRCh37
NC_000001.9:g.45569780_45569785del	NCBI36
NG_008189.1:g.13947_13952del , LRG_220:g.13947_13952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.751_756del	ENSP00000410263.2:p.Val251_Thr252del
ENST00000435155.2:c.1168_1173del	ENSP00000403655.2:p.Val390_Thr391del
ENST00000467459.6:c.1158_*2del	ENSP00000435889.2:n.[c.1158_*2del;Ter387GlyextTer?]
ENST00000483127.2:c.1153_1158del	ENSP00000436469.2:p.Val385_Thr386del
ENST00000485271.6:c.1135_1140del	ENSP00000431264.2:p.Val379_Thr380del
ENST00000529892.6:c.988_993del	ENSP00000432528.2:p.Val330_Thr331del
ENST00000533178.6:c.*464_*469del	ENSP00000436430.2:n.*464_*469del
ENST00000672314.2:c.1135_1140del	ENSP00000500828.2:p.Val379_Thr380del
ENST00000710952.2:c.1219_1224del MANE Plus Clinical	ENSP00000518552.2:p.Val407_Thr408del
ENST00000672818.3:c.1210_1215del	ENSP00000500891.1:p.Val404_Thr405del
ENST00000456914.7:c.1135_1140del MANE Select	ENSP00000407590.2:p.Val379_Thr380del
ENST00000671898.1:c.1723_1728del	ENSP00000499896.1:p.Val575_Thr576del
ENST00000672011.1:c.*464_*469del	ENSP00000500418.1:n.*464_*469del
ENST00000672314.1:c.1135_1140del	ENSP00000500828.1:p.Val379_Thr380del
ENST00000672593.1:c.*1361_*1366del	ENSP00000500455.1:n.*1361_*1366del
ENST00000672818.2:c.1210_1215del	ENSP00000500891.1:p.Val404_Thr405del
ENST00000673134.1:c.*832_*837del	ENSP00000500526.1:n.*832_*837del
ENST00000354383.10:c.1138_1143del	ENSP00000346354.6:p.Val380_Thr381del
ENST00000355498.6:c.1135_1140del	ENSP00000347685.2:p.Val379_Thr380del
ENST00000372098.7:c.1210_1215del	ENSP00000361170.3:p.Val404_Thr405del
ENST00000372104.5:c.1135_1140del	ENSP00000361176.1:p.Val379_Thr380del
ENST00000372110.7:c.1180_1185del	ENSP00000361182.3:p.Val394_Thr395del
ENST00000372115.7:c.1177_1182del	ENSP00000361187.3:p.Val393_Thr394del
ENST00000448481.5:c.1168_1173del	ENSP00000409718.1:p.Val390_Thr391del
ENST00000450313.5:c.1219_1224del	ENSP00000408176.1:p.Val407_Thr408del
ENST00000456914.6:c.1135_1140del	ENSP00000407590.2:p.Val379_Thr380del
ENST00000467459.5:c.552_557del	ENSP00000435889.1:n.[c.552_557del;Ter185GlyextTer?]
ENST00000475516.5:c.*948_*953del	ENSP00000433843.1:n.*948_*953del
ENST00000481571.5:c.*948_*953del	ENSP00000436597.1:n.*948_*953del
ENST00000482094.5:n.456_461del
ENST00000488731.6:c.220_225del	ENSP00000432330.1:p.Val74_Thr75del
ENST00000528013.6:c.1177_1182del	ENSP00000433130.2:p.Val393_Thr394del
ENST00000529892.5:c.210_215del
ENST00000529984.5:c.220_225del	ENSP00000437093.1:p.Val74_Thr75del
ENST00000531105.5:c.116-2087_116-2082del	ENSP00000431292.1:n.116-2087_116-2082del
ENST00000533178.5:c.764_769del	ENSP00000436430.1:n.764_769del
NM_001048171.1:c.1177_1182del	NP_001041636.1:p.Val393_Thr394del
NM_001048172.1:c.1138_1143del	NP_001041637.1:p.Val380_Thr381del
NM_001048173.1:c.1135_1140del	NP_001041638.1:p.Val379_Thr380del
NM_001048174.1:c.1135_1140del	NP_001041639.1:p.Val379_Thr380del
NM_001128425.1:c.1219_1224del , LRG_220t1:c.1219_1224del	NP_001121897.1:p.Val407_Thr408del
NM_001293190.1:c.1180_1185del	NP_001280119.1:p.Val394_Thr395del
NM_001293191.1:c.1168_1173del	NP_001280120.1:p.Val390_Thr391del
NM_001293192.1:c.859_864del	NP_001280121.1:p.Val287_Thr288del
NM_001293195.1:c.1135_1140del	NP_001280124.1:p.Val379_Thr380del
NM_001293196.1:c.859_864del	NP_001280125.1:p.Val287_Thr288del
NM_012222.2:c.1210_1215del	NP_036354.1:p.Val404_Thr405del
XM_011541497.1:c.1195_1200del	XP_011539799.1:p.Val399_Thr400del
XM_011541498.1:c.1177_1182del	XP_011539800.1:p.Val393_Thr394del
XM_011541499.1:c.1177_1182del	XP_011539801.1:p.Val393_Thr394del
XM_011541500.1:c.1177_1182del	XP_011539802.1:p.Val393_Thr394del
XM_011541501.1:c.1177_1182del	XP_011539803.1:p.Val393_Thr394del
XM_011541502.1:c.1177_1182del	XP_011539804.1:p.Val393_Thr394del
XM_011541503.1:c.1177_1182del	XP_011539805.1:p.Val393_Thr394del
XM_011541504.1:c.1168_1173del	XP_011539806.1:p.Val390_Thr391del
XM_011541505.1:c.757_762del	XP_011539807.1:p.Val253_Thr254del
XM_011541506.1:c.757_762del	XP_011539808.1:p.Val253_Thr254del
XM_011541507.1:c.748_753del	XP_011539809.1:p.Val250_Thr251del
XM_011541508.1:c.763_768del	XP_011539810.1:p.Val255_Thr256del
XR_946658.1:n.1266_1271del
NM_001350650.1:c.790_795del	NP_001337579.1:p.Val264_Thr265del
NM_001350651.1:c.790_795del	NP_001337580.1:p.Val264_Thr265del
NR_146882.1:n.1393_1398del
NR_146883.1:n.1207_1212del
XM_011541497.3:c.1195_1200del	XP_011539799.1:p.Val399_Thr400del
XM_011541500.3:c.1177_1182del	XP_011539802.1:p.Val393_Thr394del
XM_011541501.2:c.1177_1182del	XP_011539803.1:p.Val393_Thr394del
XM_011541502.2:c.1177_1182del	XP_011539804.1:p.Val393_Thr394del
XM_011541503.2:c.1177_1182del	XP_011539805.1:p.Val393_Thr394del
XM_011541504.2:c.1168_1173del	XP_011539806.1:p.Val390_Thr391del
XM_011541505.2:c.757_762del	XP_011539807.1:p.Val253_Thr254del
XM_011541506.2:c.757_762del	XP_011539808.1:p.Val253_Thr254del
XM_017001331.1:c.1177_1182del	XP_016856820.1:p.Val393_Thr394del
XM_017001332.1:c.1177_1182del	XP_016856821.1:p.Val393_Thr394del
XM_017001333.1:c.1177_1182del	XP_016856822.1:p.Val393_Thr394del
XM_017001334.1:c.1138_1143del	XP_016856823.1:p.Val380_Thr381del
XM_017001335.1:c.859_864del	XP_016856824.1:p.Val287_Thr288del
XM_017001336.1:c.790_795del	XP_016856825.1:p.Val264_Thr265del
XM_017001337.1:c.790_795del	XP_016856826.1:p.Val264_Thr265del
XM_024447244.1:c.790_795del	XP_024303012.1:p.Val264_Thr265del
XM_024447245.1:c.790_795del	XP_024303013.1:p.Val264_Thr265del
XM_024447248.1:c.748_753del	XP_024303016.1:p.Val250_Thr251del
XM_024447249.1:c.619_624del	XP_024303017.1:p.Val207_Thr208del
XM_024447250.1:c.619_624del	XP_024303018.1:p.Val207_Thr208del
XM_024447251.1:c.619_624del	XP_024303019.1:p.Val207_Thr208del
XR_001737190.1:n.1180_1185del
XR_001737192.1:n.992_997del
XR_002956643.1:n.1172_1177del
XR_002956644.1:n.1707_1712del
XR_946658.2:n.1280_1285del
NM_001048171.2:c.1135_1140del	NP_001041636.2:p.Val379_Thr380del
NM_001128425.2:c.1219_1224del MANE Plus Clinical	NP_001121897.1:p.Val407_Thr408del
NM_001048172.2:c.1138_1143del	NP_001041637.1:p.Val380_Thr381del
NM_001048173.2:c.1135_1140del	NP_001041638.1:p.Val379_Thr380del
NM_001048174.2:c.1135_1140del MANE Select	NP_001041639.1:p.Val379_Thr380del
NM_001293190.2:c.1180_1185del	NP_001280119.1:p.Val394_Thr395del
NM_001293191.2:c.1168_1173del	NP_001280120.1:p.Val390_Thr391del
NM_001293192.2:c.859_864del	NP_001280121.1:p.Val287_Thr288del
NM_001293195.2:c.1135_1140del	NP_001280124.1:p.Val379_Thr380del
NM_001293196.2:c.859_864del	NP_001280125.1:p.Val287_Thr288del
NM_001350650.2:c.790_795del	NP_001337579.1:p.Val264_Thr265del
NM_001350651.2:c.790_795del	NP_001337580.1:p.Val264_Thr265del
NM_012222.3:c.1210_1215del	NP_036354.1:p.Val404_Thr405del
NR_146882.2:n.1363_1368del
NR_146883.2:n.1212_1217del