Canonical Allele Identifier: CA915941280
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 826384
ClinVar RCV Id: RCV001025231
dbSNP Id: rs1570466281
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45334482_45334484delinsTAT , CM000663.2:g.45334482_45334484delinsTAT GRCh38
NC_000001.10:g.45800154_45800156delinsTAT , CM000663.1:g.45800154_45800156delinsTAT GRCh37
NC_000001.9:g.45572741_45572743delinsTAT NCBI36
NG_008189.1:g.10987_10989delinsATA , LRG_220:g.10987_10989delinsATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.37-1650_37-1648delinsATA ENSP00000410263.2:n.37-1650_37-1648delinsATA
ENST00000435155.2:c.22_24delinsATA ENSP00000403655.2:p.Val8Ile
ENST00000467459.6:c.22_24delinsATA ENSP00000435889.2:p.Val8Ile
ENST00000483127.2:c.40_42delinsATA ENSP00000436469.2:p.Val14Ile
ENST00000485271.6:c.22_24delinsATA ENSP00000431264.2:p.Val8Ile
ENST00000529892.6:c.64_66delinsATA ENSP00000432528.2:p.Val22Ile
ENST00000533178.6:c.22_24delinsATA ENSP00000436430.2:p.Val8Ile
ENST00000672314.2:c.22_24delinsATA ENSP00000500828.2:p.Val8Ile
ENST00000674679.2:c.22_24delinsATA ENSP00000501623.2:p.Val8Ile
ENST00000710952.2:c.64_66delinsATA MANE Plus Clinical ENSP00000518552.2:p.Val22Ile
ENST00000672818.3:c.64_66delinsATA ENSP00000500891.1:p.Val22Ile
ENST00000450313.6:c.64_66delinsATA ENSP00000408176.2:p.Val22Ile
ENST00000456914.7:c.22_24delinsATA MANE Select ENSP00000407590.2:p.Val8Ile
ENST00000461495.6:c.64_66delinsATA ENSP00000437166.1:p.Val22Ile
ENST00000671856.1:n.42_44delinsATA
ENST00000671898.1:c.568_570delinsATA ENSP00000499896.1:p.Val190Ile
ENST00000672011.1:c.64_66delinsATA ENSP00000500418.1:p.Val22Ile
ENST00000672314.1:c.22_24delinsATA ENSP00000500828.1:p.Val8Ile
ENST00000672593.1:c.22_24delinsATA ENSP00000500455.1:p.Val8Ile
ENST00000672764.1:c.22_24delinsATA ENSP00000500886.1:p.Val8Ile
ENST00000672818.2:c.64_66delinsATA ENSP00000500891.1:p.Val22Ile
ENST00000673134.1:c.22_24delinsATA ENSP00000500526.1:p.Val8Ile
ENST00000354383.10:c.22_24delinsATA ENSP00000346354.6:p.Val8Ile
ENST00000355498.6:c.22_24delinsATA ENSP00000347685.2:p.Val8Ile
ENST00000372098.7:c.64_66delinsATA ENSP00000361170.3:p.Val22Ile
ENST00000372104.5:c.22_24delinsATA ENSP00000361176.1:p.Val8Ile
ENST00000372110.7:c.64_66delinsATA ENSP00000361182.3:p.Val22Ile
ENST00000372115.7:c.64_66delinsATA ENSP00000361187.3:p.Val22Ile
ENST00000412971.5:c.37-1650_37-1648delinsATA ENSP00000410263.1:n.37-1650_37-1648delinsATA
ENST00000435155.1:c.22_24delinsATA ENSP00000403655.1:p.Val8Ile
ENST00000448481.5:c.22_24delinsATA ENSP00000409718.1:p.Val8Ile
ENST00000450313.5:c.64_66delinsATA ENSP00000408176.1:p.Val22Ile
ENST00000456914.6:c.22_24delinsATA ENSP00000407590.2:p.Val8Ile
ENST00000461495.5:c.64_66delinsATA ENSP00000437166.1:p.Val22Ile
ENST00000462387.5:n.242_244delinsATA
ENST00000467940.5:c.80_82delinsATA ENSP00000436478.1:p.Arg27_Gly28delinsHisArg
ENST00000470256.5:c.22_24delinsATA ENSP00000434985.1:p.Val8Ile
ENST00000474703.1:n.144_146delinsATA
ENST00000475516.5:c.22_24delinsATA ENSP00000433843.1:p.Val8Ile
ENST00000476789.5:n.242_244delinsATA
ENST00000479746.6:n.85_87delinsATA
ENST00000481139.5:n.225_227delinsATA
ENST00000481571.5:c.64_66delinsATA ENSP00000436597.1:p.Val22Ile
ENST00000483127.1:c.40_42delinsATA ENSP00000436469.1:p.Val14Ile
ENST00000483642.5:n.203_205delinsATA
ENST00000485484.5:n.72_74delinsATA
ENST00000488731.6:c.22_24delinsATA ENSP00000432330.1:p.Val8Ile
ENST00000492494.5:n.85_87delinsATA
ENST00000525160.5:c.64_66delinsATA ENSP00000431568.1:p.Val22Ile
ENST00000528013.6:c.22_24delinsATA ENSP00000433130.2:p.Val8Ile
ENST00000529984.5:c.22_24delinsATA ENSP00000437093.1:p.Val8Ile
ENST00000531105.5:c.22_24delinsATA ENSP00000431292.1:p.Val8Ile
ENST00000533178.5:c.28_30delinsATA ENSP00000436430.1:p.Val10Ile
ENST00000534453.1:n.288_290delinsATA
NM_001048171.1:c.64_66delinsATA NP_001041636.1:p.Val22Ile
NM_001048172.1:c.22_24delinsATA NP_001041637.1:p.Val8Ile
NM_001048173.1:c.22_24delinsATA NP_001041638.1:p.Val8Ile
NM_001048174.1:c.22_24delinsATA NP_001041639.1:p.Val8Ile
NM_001128425.1:c.64_66delinsATA , LRG_220t1:c.64_66delinsATA NP_001121897.1:p.Val22Ile
NM_001293190.1:c.64_66delinsATA NP_001280119.1:p.Val22Ile
NM_001293191.1:c.22_24delinsATA NP_001280120.1:p.Val8Ile
NM_001293192.1:c.-191_-189delinsATA NP_001280121.1:n.-191_-189delinsATA
NM_001293195.1:c.22_24delinsATA NP_001280124.1:p.Val8Ile
NM_001293196.1:c.-191_-189delinsATA NP_001280125.1:n.-191_-189delinsATA
NM_012222.2:c.64_66delinsATA NP_036354.1:p.Val22Ile
XM_011541497.1:c.40_42delinsATA XP_011539799.1:p.Val14Ile
XM_011541498.1:c.22_24delinsATA XP_011539800.1:p.Val8Ile
XM_011541499.1:c.22_24delinsATA XP_011539801.1:p.Val8Ile
XM_011541500.1:c.22_24delinsATA XP_011539802.1:p.Val8Ile
XM_011541501.1:c.22_24delinsATA XP_011539803.1:p.Val8Ile
XM_011541502.1:c.22_24delinsATA XP_011539804.1:p.Val8Ile
XM_011541503.1:c.64_66delinsATA XP_011539805.1:p.Val22Ile
XM_011541504.1:c.22_24delinsATA XP_011539806.1:p.Val8Ile
XM_011541505.1:c.-52_-50delinsATA XP_011539807.1:n.-52_-50delinsATA
XM_011541506.1:c.-52_-50delinsATA XP_011539808.1:n.-52_-50delinsATA
XR_946658.1:n.111_113delinsATA
NM_001350650.1:c.-250_-248delinsATA NP_001337579.1:n.-250_-248delinsATA
NM_001350651.1:c.-186_-184delinsATA NP_001337580.1:n.-186_-184delinsATA
NR_146882.1:n.280_282delinsATA
NR_146883.1:n.168_170delinsATA
XM_011541497.3:c.40_42delinsATA XP_011539799.1:p.Val14Ile
XM_011541500.3:c.22_24delinsATA XP_011539802.1:p.Val8Ile
XM_011541501.2:c.22_24delinsATA XP_011539803.1:p.Val8Ile
XM_011541502.2:c.22_24delinsATA XP_011539804.1:p.Val8Ile
XM_011541503.2:c.64_66delinsATA XP_011539805.1:p.Val22Ile
XM_011541504.2:c.22_24delinsATA XP_011539806.1:p.Val8Ile
XM_011541505.2:c.-52_-50delinsATA XP_011539807.1:n.-52_-50delinsATA
XM_011541506.2:c.-52_-50delinsATA XP_011539808.1:n.-52_-50delinsATA
XM_017001331.1:c.22_24delinsATA XP_016856820.1:p.Val8Ile
XM_017001332.1:c.22_24delinsATA XP_016856821.1:p.Val8Ile
XM_017001333.1:c.22_24delinsATA XP_016856822.1:p.Val8Ile
XM_017001334.1:c.22_24delinsATA XP_016856823.1:p.Val8Ile
XM_017001335.1:c.-191_-189delinsATA XP_016856824.1:n.-191_-189delinsATA
XM_017001336.1:c.-283_-281delinsATA XP_016856825.1:n.-283_-281delinsATA
XM_017001337.1:c.-283_-281delinsATA XP_016856826.1:n.-283_-281delinsATA
XM_024447244.1:c.-292_-290delinsATA XP_024303012.1:n.-292_-290delinsATA
XM_024447245.1:c.-253_-251delinsATA XP_024303013.1:n.-253_-251delinsATA
XM_024447248.1:c.-250_-248delinsATA XP_024303016.1:n.-250_-248delinsATA
XM_024447249.1:c.-746_-744delinsATA XP_024303017.1:n.-746_-744delinsATA
XM_024447250.1:c.-749_-747delinsATA XP_024303018.1:n.-749_-747delinsATA
XM_024447251.1:c.-440_-438delinsATA XP_024303019.1:n.-440_-438delinsATA
XR_001737190.1:n.131_133delinsATA
XR_001737192.1:n.59_61delinsATA
XR_002956643.1:n.239_241delinsATA
XR_002956644.1:n.257_259delinsATA
XR_946658.2:n.125_127delinsATA
NM_001048171.2:c.22_24delinsATA NP_001041636.2:p.Val8Ile
NM_001128425.2:c.64_66delinsATA MANE Plus Clinical NP_001121897.1:p.Val22Ile
NM_001048172.2:c.22_24delinsATA NP_001041637.1:p.Val8Ile
NM_001048173.2:c.22_24delinsATA NP_001041638.1:p.Val8Ile
NM_001048174.2:c.22_24delinsATA MANE Select NP_001041639.1:p.Val8Ile
NM_001293190.2:c.64_66delinsATA NP_001280119.1:p.Val22Ile
NM_001293191.2:c.22_24delinsATA NP_001280120.1:p.Val8Ile
NM_001293192.2:c.-191_-189delinsATA NP_001280121.1:n.-191_-189delinsATA
NM_001293195.2:c.22_24delinsATA NP_001280124.1:p.Val8Ile
NM_001293196.2:c.-191_-189delinsATA NP_001280125.1:n.-191_-189delinsATA
NM_001350650.2:c.-250_-248delinsATA NP_001337579.1:n.-250_-248delinsATA
NM_001350651.2:c.-186_-184delinsATA NP_001337580.1:n.-186_-184delinsATA
NM_012222.3:c.64_66delinsATA NP_036354.1:p.Val22Ile
NR_146882.2:n.250_252delinsATA
NR_146883.2:n.173_175delinsATA
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