Canonical Allele Identifier: CA2473712746
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 1459595
ClinVar RCV Id: RCV001959077
dbSNP Id: rs1645098684

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332468del , CM000663.2:g.45332468del GRCh38
NC_000001.10:g.45798140del , CM000663.1:g.45798140del GRCh37
NC_000001.9:g.45570727del NCBI36
NG_008189.1:g.13003del , LRG_220:g.13003del

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.243del ENSP00000410263.2:p.Asn82ThrfsTer2
ENST00000435155.2:c.660del ENSP00000403655.2:p.Asn221ThrfsTer2
ENST00000467459.6:c.627del ENSP00000435889.2:p.Asn210ThrfsTer2
ENST00000483127.2:c.645del ENSP00000436469.2:p.Asn216ThrfsTer2
ENST00000485271.6:c.627del ENSP00000431264.2:p.Asn210ThrfsTer2
ENST00000529892.6:c.669del ENSP00000432528.2:p.Asn224ThrfsTer2
ENST00000533178.6:c.250del ENSP00000436430.2:p.Gln84AsnfsTer?
ENST00000672314.2:c.627del ENSP00000500828.2:p.Asn210ThrfsTer2
ENST00000674679.2:c.*539del ENSP00000501623.2:n.*539del
ENST00000710952.2:c.711del MANE Plus Clinical ENSP00000518552.2:p.Asn238ThrfsTer2
ENST00000672818.3:c.702del ENSP00000500891.1:p.Asn235ThrfsTer2
ENST00000450313.6:c.637del ENSP00000408176.2:p.Gln213AsnfsTer?
ENST00000456914.7:c.627del MANE Select ENSP00000407590.2:p.Asn210ThrfsTer2
ENST00000461495.6:c.*366del ENSP00000437166.1:n.*366del
ENST00000671898.1:c.1215del ENSP00000499896.1:p.Asn406ThrfsTer2
ENST00000672011.1:c.595del ENSP00000500418.1:p.Gln199AsnfsTer?
ENST00000672314.1:c.627del ENSP00000500828.1:p.Asn210ThrfsTer2
ENST00000672593.1:c.*600del ENSP00000500455.1:n.*600del
ENST00000672764.1:c.586del ENSP00000500886.1:p.Gln196AsnfsTer?
ENST00000672818.2:c.702del ENSP00000500891.1:p.Asn235ThrfsTer2
ENST00000673134.1:c.*324del ENSP00000500526.1:n.*324del
ENST00000674679.1:c.655del ENSP00000501623.1:n.655del
ENST00000354383.10:c.630del ENSP00000346354.6:p.Asn211ThrfsTer2
ENST00000355498.6:c.627del ENSP00000347685.2:p.Asn210ThrfsTer2
ENST00000372098.7:c.702del ENSP00000361170.3:p.Asn235ThrfsTer2
ENST00000372104.5:c.627del ENSP00000361176.1:p.Asn210ThrfsTer2
ENST00000372110.7:c.672del ENSP00000361182.3:p.Asn225ThrfsTer2
ENST00000372115.7:c.669del ENSP00000361187.3:p.Asn224ThrfsTer2
ENST00000412971.5:c.243del ENSP00000410263.1:p.Asn82ThrfsTer2
ENST00000435155.1:c.660del ENSP00000403655.1:p.Asn221ThrfsTer2
ENST00000448481.5:c.660del ENSP00000409718.1:p.Asn221ThrfsTer2
ENST00000450313.5:c.711del ENSP00000408176.1:p.Asn238ThrfsTer2
ENST00000456914.6:c.627del ENSP00000407590.2:p.Asn210ThrfsTer2
ENST00000461495.5:c.*366del ENSP00000437166.1:n.*366del
ENST00000462388.5:n.318del
ENST00000467459.5:c.21del ENSP00000435889.1:p.Asn8ThrfsTer2
ENST00000467940.5:c.*550del ENSP00000436478.1:n.*550del
ENST00000470256.5:c.514del ENSP00000434985.1:p.Gln172AsnfsTer?
ENST00000475516.5:c.*440del ENSP00000433843.1:n.*440del
ENST00000478796.5:n.614del
ENST00000481571.5:c.*440del ENSP00000436597.1:n.*440del
ENST00000488731.6:c.187+295del ENSP00000432330.1:n.187+295del
ENST00000525160.5:c.*278del ENSP00000431568.1:n.*278del
ENST00000528013.6:c.669del ENSP00000433130.2:p.Asn224ThrfsTer2
ENST00000529984.5:c.187+295del ENSP00000437093.1:n.187+295del
ENST00000531105.5:c.115+1923del ENSP00000431292.1:n.115+1923del
ENST00000533178.5:c.256del ENSP00000436430.1:p.Gln86AsnfsTer?
NM_001048171.1:c.669del NP_001041636.1:p.Asn224ThrfsTer2
NM_001048172.1:c.630del NP_001041637.1:p.Asn211ThrfsTer2
NM_001048173.1:c.627del NP_001041638.1:p.Asn210ThrfsTer2
NM_001048174.1:c.627del NP_001041639.1:p.Asn210ThrfsTer2
NM_001128425.1:c.711del , LRG_220t1:c.711del NP_001121897.1:p.Asn238ThrfsTer2
NM_001293190.1:c.672del NP_001280119.1:p.Asn225ThrfsTer2
NM_001293191.1:c.660del NP_001280120.1:p.Asn221ThrfsTer2
NM_001293192.1:c.351del NP_001280121.1:p.Asn118ThrfsTer2
NM_001293195.1:c.627del NP_001280124.1:p.Asn210ThrfsTer2
NM_001293196.1:c.351del NP_001280125.1:p.Asn118ThrfsTer2
NM_012222.2:c.702del NP_036354.1:p.Asn235ThrfsTer2
XM_011541497.1:c.687del XP_011539799.1:p.Asn230ThrfsTer2
XM_011541498.1:c.669del XP_011539800.1:p.Asn224ThrfsTer2
XM_011541499.1:c.669del XP_011539801.1:p.Asn224ThrfsTer2
XM_011541500.1:c.669del XP_011539802.1:p.Asn224ThrfsTer2
XM_011541501.1:c.669del XP_011539803.1:p.Asn224ThrfsTer2
XM_011541502.1:c.669del XP_011539804.1:p.Asn224ThrfsTer2
XM_011541503.1:c.669del XP_011539805.1:p.Asn224ThrfsTer2
XM_011541504.1:c.660del XP_011539806.1:p.Asn221ThrfsTer2
XM_011541505.1:c.249del XP_011539807.1:p.Asn84ThrfsTer2
XM_011541506.1:c.249del XP_011539808.1:p.Asn84ThrfsTer2
XM_011541507.1:c.240del XP_011539809.1:p.Asn81ThrfsTer2
XM_011541508.1:c.255del XP_011539810.1:p.Asn86ThrfsTer2
XR_946658.1:n.758del
NM_001350650.1:c.282del NP_001337579.1:p.Asn95ThrfsTer2
NM_001350651.1:c.282del NP_001337580.1:p.Asn95ThrfsTer2
NR_146882.1:n.885del
NR_146883.1:n.699del
XM_011541497.3:c.687del XP_011539799.1:p.Asn230ThrfsTer2
XM_011541500.3:c.669del XP_011539802.1:p.Asn224ThrfsTer2
XM_011541501.2:c.669del XP_011539803.1:p.Asn224ThrfsTer2
XM_011541502.2:c.669del XP_011539804.1:p.Asn224ThrfsTer2
XM_011541503.2:c.669del XP_011539805.1:p.Asn224ThrfsTer2
XM_011541504.2:c.660del XP_011539806.1:p.Asn221ThrfsTer2
XM_011541505.2:c.249del XP_011539807.1:p.Asn84ThrfsTer2
XM_011541506.2:c.249del XP_011539808.1:p.Asn84ThrfsTer2
XM_017001331.1:c.669del XP_016856820.1:p.Asn224ThrfsTer2
XM_017001332.1:c.669del XP_016856821.1:p.Asn224ThrfsTer2
XM_017001333.1:c.669del XP_016856822.1:p.Asn224ThrfsTer2
XM_017001334.1:c.630del XP_016856823.1:p.Asn211ThrfsTer2
XM_017001335.1:c.351del XP_016856824.1:p.Asn118ThrfsTer2
XM_017001336.1:c.282del XP_016856825.1:p.Asn95ThrfsTer2
XM_017001337.1:c.282del XP_016856826.1:p.Asn95ThrfsTer2
XM_024447244.1:c.282del XP_024303012.1:p.Asn95ThrfsTer2
XM_024447245.1:c.282del XP_024303013.1:p.Asn95ThrfsTer2
XM_024447248.1:c.240del XP_024303016.1:p.Asn81ThrfsTer2
XM_024447249.1:c.111del XP_024303017.1:p.Asn38ThrfsTer2
XM_024447250.1:c.111del XP_024303018.1:p.Asn38ThrfsTer2
XM_024447251.1:c.111del XP_024303019.1:p.Asn38ThrfsTer2
XR_001737190.1:n.672del
XR_001737192.1:n.484del
XR_002956643.1:n.664del
XR_002956644.1:n.1199del
XR_946658.2:n.772del
NM_001048171.2:c.627del NP_001041636.2:p.Asn210ThrfsTer2
NM_001128425.2:c.711del MANE Plus Clinical NP_001121897.1:p.Asn238ThrfsTer2
NM_001048172.2:c.630del NP_001041637.1:p.Asn211ThrfsTer2
NM_001048173.2:c.627del NP_001041638.1:p.Asn210ThrfsTer2
NM_001048174.2:c.627del MANE Select NP_001041639.1:p.Asn210ThrfsTer2
NM_001293190.2:c.672del NP_001280119.1:p.Asn225ThrfsTer2
NM_001293191.2:c.660del NP_001280120.1:p.Asn221ThrfsTer2
NM_001293192.2:c.351del NP_001280121.1:p.Asn118ThrfsTer2
NM_001293195.2:c.627del NP_001280124.1:p.Asn210ThrfsTer2
NM_001293196.2:c.351del NP_001280125.1:p.Asn118ThrfsTer2
NM_001350650.2:c.282del NP_001337579.1:p.Asn95ThrfsTer2
NM_001350651.2:c.282del NP_001337580.1:p.Asn95ThrfsTer2
NM_012222.3:c.702del NP_036354.1:p.Asn235ThrfsTer2
NR_146882.2:n.855del
NR_146883.2:n.704del