Canonical Allele Identifier: CA2695198027

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 2673802
• ClinVar RCV Id: RCV003450438

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332477del , CM000663.2:g.45332477del	GRCh38
NC_000001.10:g.45798149del , CM000663.1:g.45798149del	GRCh37
NC_000001.9:g.45570736del	NCBI36
NG_008189.1:g.12995del , LRG_220:g.12995del

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.235del	ENSP00000410263.2:p.Val79TrpfsTer5
ENST00000435155.2:c.652del	ENSP00000403655.2:p.Val218TrpfsTer5
ENST00000467459.6:c.619del	ENSP00000435889.2:p.Val207TrpfsTer5
ENST00000483127.2:c.637del	ENSP00000436469.2:p.Val213TrpfsTer5
ENST00000485271.6:c.619del	ENSP00000431264.2:p.Val207TrpfsTer5
ENST00000529892.6:c.661del	ENSP00000432528.2:p.Val221TrpfsTer5
ENST00000533178.6:c.242del	ENSP00000436430.2:p.Gly81ValfsTer?
ENST00000672314.2:c.619del	ENSP00000500828.2:p.Val207TrpfsTer5
ENST00000674679.2:c.*531del	ENSP00000501623.2:n.*531del
ENST00000710952.2:c.703del MANE Plus Clinical	ENSP00000518552.2:p.Val235TrpfsTer5
ENST00000672818.3:c.694del	ENSP00000500891.1:p.Val232TrpfsTer5
ENST00000450313.6:c.629del	ENSP00000408176.2:p.Gly210ValfsTer?
ENST00000456914.7:c.619del MANE Select	ENSP00000407590.2:p.Val207TrpfsTer5
ENST00000461495.6:c.*358del	ENSP00000437166.1:n.*358del
ENST00000671898.1:c.1207del	ENSP00000499896.1:p.Val403TrpfsTer5
ENST00000672011.1:c.587del	ENSP00000500418.1:p.Gly196ValfsTer?
ENST00000672314.1:c.619del	ENSP00000500828.1:p.Val207TrpfsTer5
ENST00000672593.1:c.*592del	ENSP00000500455.1:n.*592del
ENST00000672764.1:c.578del	ENSP00000500886.1:p.Gly193ValfsTer?
ENST00000672818.2:c.694del	ENSP00000500891.1:p.Val232TrpfsTer5
ENST00000673134.1:c.*316del	ENSP00000500526.1:n.*316del
ENST00000674679.1:c.647del	ENSP00000501623.1:n.647del
ENST00000354383.10:c.622del	ENSP00000346354.6:p.Val208TrpfsTer5
ENST00000355498.6:c.619del	ENSP00000347685.2:p.Val207TrpfsTer5
ENST00000372098.7:c.694del	ENSP00000361170.3:p.Val232TrpfsTer5
ENST00000372104.5:c.619del	ENSP00000361176.1:p.Val207TrpfsTer5
ENST00000372110.7:c.664del	ENSP00000361182.3:p.Val222TrpfsTer5
ENST00000372115.7:c.661del	ENSP00000361187.3:p.Val221TrpfsTer5
ENST00000412971.5:c.235del	ENSP00000410263.1:p.Val79TrpfsTer5
ENST00000435155.1:c.652del	ENSP00000403655.1:p.Val218TrpfsTer5
ENST00000448481.5:c.652del	ENSP00000409718.1:p.Val218TrpfsTer5
ENST00000450313.5:c.703del	ENSP00000408176.1:p.Val235TrpfsTer5
ENST00000456914.6:c.619del	ENSP00000407590.2:p.Val207TrpfsTer5
ENST00000461495.5:c.*358del	ENSP00000437166.1:n.*358del
ENST00000462388.5:n.310del
ENST00000467459.5:c.13del	ENSP00000435889.1:p.Val5TrpfsTer5
ENST00000467940.5:c.*542del	ENSP00000436478.1:n.*542del
ENST00000470256.5:c.506del	ENSP00000434985.1:p.Gly169ValfsTer?
ENST00000475516.5:c.*432del	ENSP00000433843.1:n.*432del
ENST00000478796.5:n.606del
ENST00000481571.5:c.*432del	ENSP00000436597.1:n.*432del
ENST00000488731.6:c.187+287del	ENSP00000432330.1:n.187+287del
ENST00000525160.5:c.*270del	ENSP00000431568.1:n.*270del
ENST00000528013.6:c.661del	ENSP00000433130.2:p.Val221TrpfsTer5
ENST00000529984.5:c.187+287del	ENSP00000437093.1:n.187+287del
ENST00000531105.5:c.115+1915del	ENSP00000431292.1:n.115+1915del
ENST00000533178.5:c.248del	ENSP00000436430.1:p.Gly83ValfsTer?
NM_001048171.1:c.661del	NP_001041636.1:p.Val221TrpfsTer5
NM_001048172.1:c.622del	NP_001041637.1:p.Val208TrpfsTer5
NM_001048173.1:c.619del	NP_001041638.1:p.Val207TrpfsTer5
NM_001048174.1:c.619del	NP_001041639.1:p.Val207TrpfsTer5
NM_001128425.1:c.703del , LRG_220t1:c.703del	NP_001121897.1:p.Val235TrpfsTer5
NM_001293190.1:c.664del	NP_001280119.1:p.Val222TrpfsTer5
NM_001293191.1:c.652del	NP_001280120.1:p.Val218TrpfsTer5
NM_001293192.1:c.343del	NP_001280121.1:p.Val115TrpfsTer5
NM_001293195.1:c.619del	NP_001280124.1:p.Val207TrpfsTer5
NM_001293196.1:c.343del	NP_001280125.1:p.Val115TrpfsTer5
NM_012222.2:c.694del	NP_036354.1:p.Val232TrpfsTer5
XM_011541497.1:c.679del	XP_011539799.1:p.Val227TrpfsTer5
XM_011541498.1:c.661del	XP_011539800.1:p.Val221TrpfsTer5
XM_011541499.1:c.661del	XP_011539801.1:p.Val221TrpfsTer5
XM_011541500.1:c.661del	XP_011539802.1:p.Val221TrpfsTer5
XM_011541501.1:c.661del	XP_011539803.1:p.Val221TrpfsTer5
XM_011541502.1:c.661del	XP_011539804.1:p.Val221TrpfsTer5
XM_011541503.1:c.661del	XP_011539805.1:p.Val221TrpfsTer5
XM_011541504.1:c.652del	XP_011539806.1:p.Val218TrpfsTer5
XM_011541505.1:c.241del	XP_011539807.1:p.Val81TrpfsTer5
XM_011541506.1:c.241del	XP_011539808.1:p.Val81TrpfsTer5
XM_011541507.1:c.232del	XP_011539809.1:p.Val78TrpfsTer5
XM_011541508.1:c.247del	XP_011539810.1:p.Val83TrpfsTer5
XR_946658.1:n.750del
NM_001350650.1:c.274del	NP_001337579.1:p.Val92TrpfsTer5
NM_001350651.1:c.274del	NP_001337580.1:p.Val92TrpfsTer5
NR_146882.1:n.877del
NR_146883.1:n.691del
XM_011541497.3:c.679del	XP_011539799.1:p.Val227TrpfsTer5
XM_011541500.3:c.661del	XP_011539802.1:p.Val221TrpfsTer5
XM_011541501.2:c.661del	XP_011539803.1:p.Val221TrpfsTer5
XM_011541502.2:c.661del	XP_011539804.1:p.Val221TrpfsTer5
XM_011541503.2:c.661del	XP_011539805.1:p.Val221TrpfsTer5
XM_011541504.2:c.652del	XP_011539806.1:p.Val218TrpfsTer5
XM_011541505.2:c.241del	XP_011539807.1:p.Val81TrpfsTer5
XM_011541506.2:c.241del	XP_011539808.1:p.Val81TrpfsTer5
XM_017001331.1:c.661del	XP_016856820.1:p.Val221TrpfsTer5
XM_017001332.1:c.661del	XP_016856821.1:p.Val221TrpfsTer5
XM_017001333.1:c.661del	XP_016856822.1:p.Val221TrpfsTer5
XM_017001334.1:c.622del	XP_016856823.1:p.Val208TrpfsTer5
XM_017001335.1:c.343del	XP_016856824.1:p.Val115TrpfsTer5
XM_017001336.1:c.274del	XP_016856825.1:p.Val92TrpfsTer5
XM_017001337.1:c.274del	XP_016856826.1:p.Val92TrpfsTer5
XM_024447244.1:c.274del	XP_024303012.1:p.Val92TrpfsTer5
XM_024447245.1:c.274del	XP_024303013.1:p.Val92TrpfsTer5
XM_024447248.1:c.232del	XP_024303016.1:p.Val78TrpfsTer5
XM_024447249.1:c.103del	XP_024303017.1:p.Val35TrpfsTer5
XM_024447250.1:c.103del	XP_024303018.1:p.Val35TrpfsTer5
XM_024447251.1:c.103del	XP_024303019.1:p.Val35TrpfsTer5
XR_001737190.1:n.664del
XR_001737192.1:n.476del
XR_002956643.1:n.656del
XR_002956644.1:n.1191del
XR_946658.2:n.764del
NM_001048171.2:c.619del	NP_001041636.2:p.Val207TrpfsTer5
NM_001128425.2:c.703del MANE Plus Clinical	NP_001121897.1:p.Val235TrpfsTer5
NM_001048172.2:c.622del	NP_001041637.1:p.Val208TrpfsTer5
NM_001048173.2:c.619del	NP_001041638.1:p.Val207TrpfsTer5
NM_001048174.2:c.619del MANE Select	NP_001041639.1:p.Val207TrpfsTer5
NM_001293190.2:c.664del	NP_001280119.1:p.Val222TrpfsTer5
NM_001293191.2:c.652del	NP_001280120.1:p.Val218TrpfsTer5
NM_001293192.2:c.343del	NP_001280121.1:p.Val115TrpfsTer5
NM_001293195.2:c.619del	NP_001280124.1:p.Val207TrpfsTer5
NM_001293196.2:c.343del	NP_001280125.1:p.Val115TrpfsTer5
NM_001350650.2:c.274del	NP_001337579.1:p.Val92TrpfsTer5
NM_001350651.2:c.274del	NP_001337580.1:p.Val92TrpfsTer5
NM_012222.3:c.694del	NP_036354.1:p.Val232TrpfsTer5
NR_146882.2:n.847del
NR_146883.2:n.696del