Canonical Allele Identifier: CA2473712734
Gene: MUTYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332454_45332455delinsAC , CM000663.2:g.45332454_45332455delinsAC GRCh38
NC_000001.10:g.45798126_45798127delinsAC , CM000663.1:g.45798126_45798127delinsAC GRCh37
NC_000001.9:g.45570713_45570714delinsAC NCBI36
NG_008189.1:g.13016_13017delinsGT , LRG_220:g.13016_13017delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.256_257delinsGT ENSP00000410263.2:p.Val86=
ENST00000435155.2:c.673_674delinsGT ENSP00000403655.2:p.Val225=
ENST00000467459.6:c.640_641delinsGT ENSP00000435889.2:p.Val214=
ENST00000483127.2:c.658_659delinsGT ENSP00000436469.2:p.Val220=
ENST00000485271.6:c.640_641delinsGT ENSP00000431264.2:p.Val214=
ENST00000529892.6:c.682_683delinsGT ENSP00000432528.2:p.Val228=
ENST00000533178.6:c.263_264delinsGT ENSP00000436430.2:p.Gly88=
ENST00000672314.2:c.640_641delinsGT ENSP00000500828.2:p.Val214=
ENST00000674679.2:c.*552_*553delinsGT ENSP00000501623.2:n.*552_*553delinsGT
ENST00000710952.2:c.724_725delinsGT MANE Plus Clinical ENSP00000518552.2:p.Val242=
ENST00000672818.3:c.715_716delinsGT ENSP00000500891.1:p.Val239=
ENST00000450313.6:c.650_651delinsGT ENSP00000408176.2:p.Gly217=
ENST00000456914.7:c.640_641delinsGT MANE Select ENSP00000407590.2:p.Val214=
ENST00000461495.6:c.*379_*380delinsGT ENSP00000437166.1:n.*379_*380delinsGT
ENST00000671898.1:c.1228_1229delinsGT ENSP00000499896.1:p.Val410=
ENST00000672011.1:c.608_609delinsGT ENSP00000500418.1:p.Gly203=
ENST00000672314.1:c.640_641delinsGT ENSP00000500828.1:p.Val214=
ENST00000672593.1:c.*613_*614delinsGT ENSP00000500455.1:n.*613_*614delinsGT
ENST00000672764.1:c.599_600delinsGT ENSP00000500886.1:p.Gly200=
ENST00000672818.2:c.715_716delinsGT ENSP00000500891.1:p.Val239=
ENST00000673134.1:c.*337_*338delinsGT ENSP00000500526.1:n.*337_*338delinsGT
ENST00000674679.1:c.668_669delinsGT ENSP00000501623.1:n.668_669delinsGT
ENST00000354383.10:c.643_644delinsGT ENSP00000346354.6:p.Val215=
ENST00000355498.6:c.640_641delinsGT ENSP00000347685.2:p.Val214=
ENST00000372098.7:c.715_716delinsGT ENSP00000361170.3:p.Val239=
ENST00000372104.5:c.640_641delinsGT ENSP00000361176.1:p.Val214=
ENST00000372110.7:c.685_686delinsGT ENSP00000361182.3:p.Val229=
ENST00000372115.7:c.682_683delinsGT ENSP00000361187.3:p.Val228=
ENST00000412971.5:c.256_257delinsGT ENSP00000410263.1:p.Val86=
ENST00000435155.1:c.673_674delinsGT ENSP00000403655.1:p.Val225=
ENST00000448481.5:c.673_674delinsGT ENSP00000409718.1:p.Val225=
ENST00000450313.5:c.724_725delinsGT ENSP00000408176.1:p.Val242=
ENST00000456914.6:c.640_641delinsGT ENSP00000407590.2:p.Val214=
ENST00000461495.5:c.*379_*380delinsGT ENSP00000437166.1:n.*379_*380delinsGT
ENST00000462388.5:n.331_332delinsGT
ENST00000467459.5:c.34_35delinsGT ENSP00000435889.1:p.Val12=
ENST00000467940.5:c.*563_*564delinsGT ENSP00000436478.1:n.*563_*564delinsGT
ENST00000470256.5:c.527_528delinsGT ENSP00000434985.1:p.Gly176=
ENST00000475516.5:c.*453_*454delinsGT ENSP00000433843.1:n.*453_*454delinsGT
ENST00000478796.5:n.627_628delinsGT
ENST00000481571.5:c.*453_*454delinsGT ENSP00000436597.1:n.*453_*454delinsGT
ENST00000488731.6:c.187+308_187+309delinsGT ENSP00000432330.1:n.187+308_187+309delinsGT
ENST00000525160.5:c.*291_*292delinsGT ENSP00000431568.1:n.*291_*292delinsGT
ENST00000528013.6:c.682_683delinsGT ENSP00000433130.2:p.Val228=
ENST00000529984.5:c.187+308_187+309delinsGT ENSP00000437093.1:n.187+308_187+309delinsGT
ENST00000531105.5:c.115+1936_115+1937delinsGT ENSP00000431292.1:n.115+1936_115+1937delinsGT
ENST00000533178.5:c.269_270delinsGT ENSP00000436430.1:p.Gly90=
NM_001048171.1:c.682_683delinsGT NP_001041636.1:p.Val228=
NM_001048172.1:c.643_644delinsGT NP_001041637.1:p.Val215=
NM_001048173.1:c.640_641delinsGT NP_001041638.1:p.Val214=
NM_001048174.1:c.640_641delinsGT NP_001041639.1:p.Val214=
NM_001128425.1:c.724_725delinsGT , LRG_220t1:c.724_725delinsGT NP_001121897.1:p.Val242=
NM_001293190.1:c.685_686delinsGT NP_001280119.1:p.Val229=
NM_001293191.1:c.673_674delinsGT NP_001280120.1:p.Val225=
NM_001293192.1:c.364_365delinsGT NP_001280121.1:p.Val122=
NM_001293195.1:c.640_641delinsGT NP_001280124.1:p.Val214=
NM_001293196.1:c.364_365delinsGT NP_001280125.1:p.Val122=
NM_012222.2:c.715_716delinsGT NP_036354.1:p.Val239=
XM_011541497.1:c.700_701delinsGT XP_011539799.1:p.Val234=
XM_011541498.1:c.682_683delinsGT XP_011539800.1:p.Val228=
XM_011541499.1:c.682_683delinsGT XP_011539801.1:p.Val228=
XM_011541500.1:c.682_683delinsGT XP_011539802.1:p.Val228=
XM_011541501.1:c.682_683delinsGT XP_011539803.1:p.Val228=
XM_011541502.1:c.682_683delinsGT XP_011539804.1:p.Val228=
XM_011541503.1:c.682_683delinsGT XP_011539805.1:p.Val228=
XM_011541504.1:c.673_674delinsGT XP_011539806.1:p.Val225=
XM_011541505.1:c.262_263delinsGT XP_011539807.1:p.Val88=
XM_011541506.1:c.262_263delinsGT XP_011539808.1:p.Val88=
XM_011541507.1:c.253_254delinsGT XP_011539809.1:p.Val85=
XM_011541508.1:c.268_269delinsGT XP_011539810.1:p.Val90=
XR_946658.1:n.771_772delinsGT
NM_001350650.1:c.295_296delinsGT NP_001337579.1:p.Val99=
NM_001350651.1:c.295_296delinsGT NP_001337580.1:p.Val99=
NR_146882.1:n.898_899delinsGT
NR_146883.1:n.712_713delinsGT
XM_011541497.3:c.700_701delinsGT XP_011539799.1:p.Val234=
XM_011541500.3:c.682_683delinsGT XP_011539802.1:p.Val228=
XM_011541501.2:c.682_683delinsGT XP_011539803.1:p.Val228=
XM_011541502.2:c.682_683delinsGT XP_011539804.1:p.Val228=
XM_011541503.2:c.682_683delinsGT XP_011539805.1:p.Val228=
XM_011541504.2:c.673_674delinsGT XP_011539806.1:p.Val225=
XM_011541505.2:c.262_263delinsGT XP_011539807.1:p.Val88=
XM_011541506.2:c.262_263delinsGT XP_011539808.1:p.Val88=
XM_017001331.1:c.682_683delinsGT XP_016856820.1:p.Val228=
XM_017001332.1:c.682_683delinsGT XP_016856821.1:p.Val228=
XM_017001333.1:c.682_683delinsGT XP_016856822.1:p.Val228=
XM_017001334.1:c.643_644delinsGT XP_016856823.1:p.Val215=
XM_017001335.1:c.364_365delinsGT XP_016856824.1:p.Val122=
XM_017001336.1:c.295_296delinsGT XP_016856825.1:p.Val99=
XM_017001337.1:c.295_296delinsGT XP_016856826.1:p.Val99=
XM_024447244.1:c.295_296delinsGT XP_024303012.1:p.Val99=
XM_024447245.1:c.295_296delinsGT XP_024303013.1:p.Val99=
XM_024447248.1:c.253_254delinsGT XP_024303016.1:p.Val85=
XM_024447249.1:c.124_125delinsGT XP_024303017.1:p.Val42=
XM_024447250.1:c.124_125delinsGT XP_024303018.1:p.Val42=
XM_024447251.1:c.124_125delinsGT XP_024303019.1:p.Val42=
XR_001737190.1:n.685_686delinsGT
XR_001737192.1:n.497_498delinsGT
XR_002956643.1:n.677_678delinsGT
XR_002956644.1:n.1212_1213delinsGT
XR_946658.2:n.785_786delinsGT
NM_001048171.2:c.640_641delinsGT NP_001041636.2:p.Val214=
NM_001128425.2:c.724_725delinsGT MANE Plus Clinical NP_001121897.1:p.Val242=
NM_001048172.2:c.643_644delinsGT NP_001041637.1:p.Val215=
NM_001048173.2:c.640_641delinsGT NP_001041638.1:p.Val214=
NM_001048174.2:c.640_641delinsGT MANE Select NP_001041639.1:p.Val214=
NM_001293190.2:c.685_686delinsGT NP_001280119.1:p.Val229=
NM_001293191.2:c.673_674delinsGT NP_001280120.1:p.Val225=
NM_001293192.2:c.364_365delinsGT NP_001280121.1:p.Val122=
NM_001293195.2:c.640_641delinsGT NP_001280124.1:p.Val214=
NM_001293196.2:c.364_365delinsGT NP_001280125.1:p.Val122=
NM_001350650.2:c.295_296delinsGT NP_001337579.1:p.Val99=
NM_001350651.2:c.295_296delinsGT NP_001337580.1:p.Val99=
NM_012222.3:c.715_716delinsGT NP_036354.1:p.Val239=
NR_146882.2:n.868_869delinsGT
NR_146883.2:n.717_718delinsGT