Canonical Allele Identifier: CA16617162
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 418342
dbSNP Id: rs1064793197

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332458_45332463delinsAGCAGCTG , CM000663.2:g.45332458_45332463delinsAGCAGCTG GRCh38
NC_000001.10:g.45798130_45798135delinsAGCAGCTG , CM000663.1:g.45798130_45798135delinsAGCAGCTG GRCh37
NC_000001.9:g.45570717_45570722delinsAGCAGCTG NCBI36
NG_008189.1:g.13008_13013delinsCAGCTGCT , LRG_220:g.13008_13013delinsCAGCTGCT

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.248_253delinsCAGCTGCT ENSP00000410263.2:p.Val83AlafsTer28
ENST00000435155.2:c.665_670delinsCAGCTGCT ENSP00000403655.2:p.Val222AlafsTer28
ENST00000467459.6:c.632_637delinsCAGCTGCT ENSP00000435889.2:p.Val211AlafsTer28
ENST00000483127.2:c.650_655delinsCAGCTGCT ENSP00000436469.2:p.Val217AlafsTer28
ENST00000485271.6:c.632_637delinsCAGCTGCT ENSP00000431264.2:p.Val211AlafsTer28
ENST00000529892.6:c.674_679delinsCAGCTGCT ENSP00000432528.2:p.Val225AlafsTer28
ENST00000533178.6:c.255_260delinsCAGCTGCT ENSP00000436430.2:p.Thr87CysfsTer?
ENST00000672314.2:c.632_637delinsCAGCTGCT ENSP00000500828.2:p.Val211AlafsTer28
ENST00000674679.2:c.*544_*549delinsCAGCTGCT ENSP00000501623.2:n.*544_*549delinsCAGCTG...
ENST00000710952.2:c.716_721delinsCAGCTGCT MANE Plus Clinical ENSP00000518552.2:p.Val239AlafsTer28
ENST00000672818.3:c.707_712delinsCAGCTGCT ENSP00000500891.1:p.Val236AlafsTer28
ENST00000450313.6:c.642_647delinsCAGCTGCT ENSP00000408176.2:p.Thr216CysfsTer?
ENST00000456914.7:c.632_637delinsCAGCTGCT MANE Select ENSP00000407590.2:p.Val211AlafsTer28
ENST00000461495.6:c.*371_*376delinsCAGCTGCT ENSP00000437166.1:n.*371_*376delinsCAGCTG...
ENST00000671898.1:c.1220_1225delinsCAGCTGCT ENSP00000499896.1:p.Val407AlafsTer28
ENST00000672011.1:c.600_605delinsCAGCTGCT ENSP00000500418.1:p.Thr202CysfsTer?
ENST00000672314.1:c.632_637delinsCAGCTGCT ENSP00000500828.1:p.Val211AlafsTer28
ENST00000672593.1:c.*605_*610delinsCAGCTGCT ENSP00000500455.1:n.*605_*610delinsCAGCTG...
ENST00000672764.1:c.591_596delinsCAGCTGCT ENSP00000500886.1:p.Thr199CysfsTer?
ENST00000672818.2:c.707_712delinsCAGCTGCT ENSP00000500891.1:p.Val236AlafsTer28
ENST00000673134.1:c.*329_*334delinsCAGCTGCT ENSP00000500526.1:n.*329_*334delinsCAGCTG...
ENST00000674679.1:c.660_665delinsCAGCTGCT ENSP00000501623.1:n.660_665delinsCAGCTGCT...
ENST00000354383.10:c.635_640delinsCAGCTGCT ENSP00000346354.6:p.Val212AlafsTer28
ENST00000355498.6:c.632_637delinsCAGCTGCT ENSP00000347685.2:p.Val211AlafsTer28
ENST00000372098.7:c.707_712delinsCAGCTGCT ENSP00000361170.3:p.Val236AlafsTer28
ENST00000372104.5:c.632_637delinsCAGCTGCT ENSP00000361176.1:p.Val211AlafsTer28
ENST00000372110.7:c.677_682delinsCAGCTGCT ENSP00000361182.3:p.Val226AlafsTer28
ENST00000372115.7:c.674_679delinsCAGCTGCT ENSP00000361187.3:p.Val225AlafsTer28
ENST00000412971.5:c.248_253delinsCAGCTGCT ENSP00000410263.1:p.Val83AlafsTer28
ENST00000435155.1:c.665_670delinsCAGCTGCT ENSP00000403655.1:p.Val222AlafsTer28
ENST00000448481.5:c.665_670delinsCAGCTGCT ENSP00000409718.1:p.Val222AlafsTer28
ENST00000450313.5:c.716_721delinsCAGCTGCT ENSP00000408176.1:p.Val239AlafsTer28
ENST00000456914.6:c.632_637delinsCAGCTGCT ENSP00000407590.2:p.Val211AlafsTer28
ENST00000461495.5:c.*371_*376delinsCAGCTGCT ENSP00000437166.1:n.*371_*376delinsCAGCTG...
ENST00000462388.5:n.323_328delinsCAGCTGCT
ENST00000467459.5:c.26_31delinsCAGCTGCT ENSP00000435889.1:p.Val9AlafsTer28
ENST00000467940.5:c.*555_*560delinsCAGCTGCT ENSP00000436478.1:n.*555_*560delinsCAGCTG...
ENST00000470256.5:c.519_524delinsCAGCTGCT ENSP00000434985.1:p.Thr175CysfsTer?
ENST00000475516.5:c.*445_*450delinsCAGCTGCT ENSP00000433843.1:n.*445_*450delinsCAGCTG...
ENST00000478796.5:n.619_624delinsCAGCTGCT
ENST00000481571.5:c.*445_*450delinsCAGCTGCT ENSP00000436597.1:n.*445_*450delinsCAGCTG...
ENST00000488731.6:c.187+300_187+305delinsCAGCTGCT ENSP00000432330.1:n.187+300_187+305delins...
ENST00000525160.5:c.*283_*288delinsCAGCTGCT ENSP00000431568.1:n.*283_*288delinsCAGCTG...
ENST00000528013.6:c.674_679delinsCAGCTGCT ENSP00000433130.2:p.Val225AlafsTer28
ENST00000529984.5:c.187+300_187+305delinsCAGCTGCT ENSP00000437093.1:n.187+300_187+305delins...
ENST00000531105.5:c.115+1928_115+1933delinsCAGCTGCT ENSP00000431292.1:n.115+1928_115+1933deli...
ENST00000533178.5:c.261_266delinsCAGCTGCT ENSP00000436430.1:p.Thr89CysfsTer?
NM_001048171.1:c.674_679delinsCAGCTGCT NP_001041636.1:p.Val225AlafsTer28
NM_001048172.1:c.635_640delinsCAGCTGCT NP_001041637.1:p.Val212AlafsTer28
NM_001048173.1:c.632_637delinsCAGCTGCT NP_001041638.1:p.Val211AlafsTer28
NM_001048174.1:c.632_637delinsCAGCTGCT NP_001041639.1:p.Val211AlafsTer28
NM_001128425.1:c.716_721delinsCAGCTGCT , LRG_220t1:c.716_721delinsCAGCTGCT NP_001121897.1:p.Val239AlafsTer28
NM_001293190.1:c.677_682delinsCAGCTGCT NP_001280119.1:p.Val226AlafsTer28
NM_001293191.1:c.665_670delinsCAGCTGCT NP_001280120.1:p.Val222AlafsTer28
NM_001293192.1:c.356_361delinsCAGCTGCT NP_001280121.1:p.Val119AlafsTer28
NM_001293195.1:c.632_637delinsCAGCTGCT NP_001280124.1:p.Val211AlafsTer28
NM_001293196.1:c.356_361delinsCAGCTGCT NP_001280125.1:p.Val119AlafsTer28
NM_012222.2:c.707_712delinsCAGCTGCT NP_036354.1:p.Val236AlafsTer28
XM_011541497.1:c.692_697delinsCAGCTGCT XP_011539799.1:p.Val231AlafsTer28
XM_011541498.1:c.674_679delinsCAGCTGCT XP_011539800.1:p.Val225AlafsTer28
XM_011541499.1:c.674_679delinsCAGCTGCT XP_011539801.1:p.Val225AlafsTer28
XM_011541500.1:c.674_679delinsCAGCTGCT XP_011539802.1:p.Val225AlafsTer28
XM_011541501.1:c.674_679delinsCAGCTGCT XP_011539803.1:p.Val225AlafsTer28
XM_011541502.1:c.674_679delinsCAGCTGCT XP_011539804.1:p.Val225AlafsTer28
XM_011541503.1:c.674_679delinsCAGCTGCT XP_011539805.1:p.Val225AlafsTer28
XM_011541504.1:c.665_670delinsCAGCTGCT XP_011539806.1:p.Val222AlafsTer28
XM_011541505.1:c.254_259delinsCAGCTGCT XP_011539807.1:p.Val85AlafsTer28
XM_011541506.1:c.254_259delinsCAGCTGCT XP_011539808.1:p.Val85AlafsTer28
XM_011541507.1:c.245_250delinsCAGCTGCT XP_011539809.1:p.Val82AlafsTer28
XM_011541508.1:c.260_265delinsCAGCTGCT XP_011539810.1:p.Val87AlafsTer28
XR_946658.1:n.763_768delinsCAGCTGCT
NM_001350650.1:c.287_292delinsCAGCTGCT NP_001337579.1:p.Val96AlafsTer28
NM_001350651.1:c.287_292delinsCAGCTGCT NP_001337580.1:p.Val96AlafsTer28
NR_146882.1:n.890_895delinsCAGCTGCT
NR_146883.1:n.704_709delinsCAGCTGCT
XM_011541497.3:c.692_697delinsCAGCTGCT XP_011539799.1:p.Val231AlafsTer28
XM_011541500.3:c.674_679delinsCAGCTGCT XP_011539802.1:p.Val225AlafsTer28
XM_011541501.2:c.674_679delinsCAGCTGCT XP_011539803.1:p.Val225AlafsTer28
XM_011541502.2:c.674_679delinsCAGCTGCT XP_011539804.1:p.Val225AlafsTer28
XM_011541503.2:c.674_679delinsCAGCTGCT XP_011539805.1:p.Val225AlafsTer28
XM_011541504.2:c.665_670delinsCAGCTGCT XP_011539806.1:p.Val222AlafsTer28
XM_011541505.2:c.254_259delinsCAGCTGCT XP_011539807.1:p.Val85AlafsTer28
XM_011541506.2:c.254_259delinsCAGCTGCT XP_011539808.1:p.Val85AlafsTer28
XM_017001331.1:c.674_679delinsCAGCTGCT XP_016856820.1:p.Val225AlafsTer28
XM_017001332.1:c.674_679delinsCAGCTGCT XP_016856821.1:p.Val225AlafsTer28
XM_017001333.1:c.674_679delinsCAGCTGCT XP_016856822.1:p.Val225AlafsTer28
XM_017001334.1:c.635_640delinsCAGCTGCT XP_016856823.1:p.Val212AlafsTer28
XM_017001335.1:c.356_361delinsCAGCTGCT XP_016856824.1:p.Val119AlafsTer28
XM_017001336.1:c.287_292delinsCAGCTGCT XP_016856825.1:p.Val96AlafsTer28
XM_017001337.1:c.287_292delinsCAGCTGCT XP_016856826.1:p.Val96AlafsTer28
XM_024447244.1:c.287_292delinsCAGCTGCT XP_024303012.1:p.Val96AlafsTer28
XM_024447245.1:c.287_292delinsCAGCTGCT XP_024303013.1:p.Val96AlafsTer28
XM_024447248.1:c.245_250delinsCAGCTGCT XP_024303016.1:p.Val82AlafsTer28
XM_024447249.1:c.116_121delinsCAGCTGCT XP_024303017.1:p.Val39AlafsTer28
XM_024447250.1:c.116_121delinsCAGCTGCT XP_024303018.1:p.Val39AlafsTer28
XM_024447251.1:c.116_121delinsCAGCTGCT XP_024303019.1:p.Val39AlafsTer28
XR_001737190.1:n.677_682delinsCAGCTGCT
XR_001737192.1:n.489_494delinsCAGCTGCT
XR_002956643.1:n.669_674delinsCAGCTGCT
XR_002956644.1:n.1204_1209delinsCAGCTGCT
XR_946658.2:n.777_782delinsCAGCTGCT
NM_001048171.2:c.632_637delinsCAGCTGCT NP_001041636.2:p.Val211AlafsTer28
NM_001128425.2:c.716_721delinsCAGCTGCT MANE Plus Clinical NP_001121897.1:p.Val239AlafsTer28
NM_001048172.2:c.635_640delinsCAGCTGCT NP_001041637.1:p.Val212AlafsTer28
NM_001048173.2:c.632_637delinsCAGCTGCT NP_001041638.1:p.Val211AlafsTer28
NM_001048174.2:c.632_637delinsCAGCTGCT MANE Select NP_001041639.1:p.Val211AlafsTer28
NM_001293190.2:c.677_682delinsCAGCTGCT NP_001280119.1:p.Val226AlafsTer28
NM_001293191.2:c.665_670delinsCAGCTGCT NP_001280120.1:p.Val222AlafsTer28
NM_001293192.2:c.356_361delinsCAGCTGCT NP_001280121.1:p.Val119AlafsTer28
NM_001293195.2:c.632_637delinsCAGCTGCT NP_001280124.1:p.Val211AlafsTer28
NM_001293196.2:c.356_361delinsCAGCTGCT NP_001280125.1:p.Val119AlafsTer28
NM_001350650.2:c.287_292delinsCAGCTGCT NP_001337579.1:p.Val96AlafsTer28
NM_001350651.2:c.287_292delinsCAGCTGCT NP_001337580.1:p.Val96AlafsTer28
NM_012222.3:c.707_712delinsCAGCTGCT NP_036354.1:p.Val236AlafsTer28
NR_146882.2:n.860_865delinsCAGCTGCT
NR_146883.2:n.709_714delinsCAGCTGCT