Canonical Allele Identifier: CA2573132035

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 1364709
• ClinVar RCV Id: RCV001907649
• dbSNP Id: rs2149129901

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331838_45331839del , CM000663.2:g.45331838_45331839del	GRCh38
NC_000001.10:g.45797510_45797511del , CM000663.1:g.45797510_45797511del	GRCh37
NC_000001.9:g.45570097_45570098del	NCBI36
NG_008189.1:g.13632_13633del , LRG_220:g.13632_13633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.540_541del	ENSP00000410263.2:p.Gly181ThrfsTer?
ENST00000435155.2:c.957_958del	ENSP00000403655.2:p.Gly320ThrfsTer?
ENST00000467459.6:c.947_948del	ENSP00000435889.2:p.Leu316ArgfsTer?
ENST00000483127.2:c.942_943del	ENSP00000436469.2:p.Gly315ThrfsTer?
ENST00000485271.6:c.924_925del	ENSP00000431264.2:p.Gly309ThrfsTer?
ENST00000529892.6:c.955+184_955+185del	ENSP00000432528.2:n.955+184_955+185del
ENST00000533178.6:c.*253_*254del	ENSP00000436430.2:n.*253_*254del
ENST00000672314.2:c.924_925del	ENSP00000500828.2:p.Gly309ThrfsTer?
ENST00000710952.2:c.1008_1009del MANE Plus Clinical	ENSP00000518552.2:p.Gly337ThrfsTer?
ENST00000672818.3:c.999_1000del	ENSP00000500891.1:p.Gly334ThrfsTer?
ENST00000456914.7:c.924_925del MANE Select	ENSP00000407590.2:p.Gly309ThrfsTer?
ENST00000671898.1:c.1512_1513del	ENSP00000499896.1:p.Gly505ThrfsTer?
ENST00000672011.1:c.*253_*254del	ENSP00000500418.1:n.*253_*254del
ENST00000672314.1:c.924_925del	ENSP00000500828.1:p.Gly309ThrfsTer?
ENST00000672593.1:c.*1150_*1151del	ENSP00000500455.1:n.*1150_*1151del
ENST00000672764.1:c.*253_*254del	ENSP00000500886.1:n.*253_*254del
ENST00000672818.2:c.999_1000del	ENSP00000500891.1:p.Gly334ThrfsTer?
ENST00000673134.1:c.*621_*622del	ENSP00000500526.1:n.*621_*622del
ENST00000354383.10:c.927_928del	ENSP00000346354.6:p.Gly310ThrfsTer?
ENST00000355498.6:c.924_925del	ENSP00000347685.2:p.Gly309ThrfsTer?
ENST00000372098.7:c.999_1000del	ENSP00000361170.3:p.Gly334ThrfsTer?
ENST00000372104.5:c.924_925del	ENSP00000361176.1:p.Gly309ThrfsTer?
ENST00000372110.7:c.969_970del	ENSP00000361182.3:p.Gly324ThrfsTer?
ENST00000372115.7:c.966_967del	ENSP00000361187.3:p.Gly323ThrfsTer?
ENST00000412971.5:c.540_541del	ENSP00000410263.1:p.Gly181ThrfsTer?
ENST00000448481.5:c.957_958del	ENSP00000409718.1:p.Gly320ThrfsTer?
ENST00000450313.5:c.1008_1009del	ENSP00000408176.1:p.Gly337ThrfsTer?
ENST00000456914.6:c.924_925del	ENSP00000407590.2:p.Gly309ThrfsTer?
ENST00000462388.5:n.788_789del
ENST00000466231.1:n.289_290del
ENST00000467459.5:c.341_342del	ENSP00000435889.1:p.Leu114ArgfsTer?
ENST00000475516.5:c.*737_*738del	ENSP00000433843.1:n.*737_*738del
ENST00000481571.5:c.*737_*738del	ENSP00000436597.1:n.*737_*738del
ENST00000482094.5:n.245_246del
ENST00000488731.6:c.188-283_188-282del	ENSP00000432330.1:n.188-283_188-282del
ENST00000528013.6:c.966_967del	ENSP00000433130.2:p.Gly323ThrfsTer?
ENST00000529892.5:c.177+184_177+185del
ENST00000529984.5:c.188-283_188-282del	ENSP00000437093.1:n.188-283_188-282del
ENST00000531105.5:c.116-2402_116-2401del	ENSP00000431292.1:n.116-2402_116-2401del
ENST00000533178.5:c.553_554del	ENSP00000436430.1:n.553_554del
NM_001048171.1:c.966_967del	NP_001041636.1:p.Gly323ThrfsTer?
NM_001048172.1:c.927_928del	NP_001041637.1:p.Gly310ThrfsTer?
NM_001048173.1:c.924_925del	NP_001041638.1:p.Gly309ThrfsTer?
NM_001048174.1:c.924_925del	NP_001041639.1:p.Gly309ThrfsTer?
NM_001128425.1:c.1008_1009del , LRG_220t1:c.1008_1009del	NP_001121897.1:p.Gly337ThrfsTer?
NM_001293190.1:c.969_970del	NP_001280119.1:p.Gly324ThrfsTer?
NM_001293191.1:c.957_958del	NP_001280120.1:p.Gly320ThrfsTer?
NM_001293192.1:c.648_649del	NP_001280121.1:p.Gly217ThrfsTer?
NM_001293195.1:c.924_925del	NP_001280124.1:p.Gly309ThrfsTer?
NM_001293196.1:c.648_649del	NP_001280125.1:p.Gly217ThrfsTer?
NM_012222.2:c.999_1000del	NP_036354.1:p.Gly334ThrfsTer?
XM_011541497.1:c.984_985del	XP_011539799.1:p.Gly329ThrfsTer?
XM_011541498.1:c.966_967del	XP_011539800.1:p.Gly323ThrfsTer?
XM_011541499.1:c.966_967del	XP_011539801.1:p.Gly323ThrfsTer?
XM_011541500.1:c.966_967del	XP_011539802.1:p.Gly323ThrfsTer?
XM_011541501.1:c.966_967del	XP_011539803.1:p.Gly323ThrfsTer?
XM_011541502.1:c.966_967del	XP_011539804.1:p.Gly323ThrfsTer?
XM_011541503.1:c.966_967del	XP_011539805.1:p.Gly323ThrfsTer?
XM_011541504.1:c.957_958del	XP_011539806.1:p.Gly320ThrfsTer?
XM_011541505.1:c.546_547del	XP_011539807.1:p.Gly183ThrfsTer?
XM_011541506.1:c.546_547del	XP_011539808.1:p.Gly183ThrfsTer?
XM_011541507.1:c.537_538del	XP_011539809.1:p.Gly180ThrfsTer?
XM_011541508.1:c.552_553del	XP_011539810.1:p.Gly185ThrfsTer?
XR_946658.1:n.1055_1056del
NM_001350650.1:c.579_580del	NP_001337579.1:p.Gly194ThrfsTer?
NM_001350651.1:c.579_580del	NP_001337580.1:p.Gly194ThrfsTer?
NR_146882.1:n.1182_1183del
NR_146883.1:n.996_997del
XM_011541497.3:c.984_985del	XP_011539799.1:p.Gly329ThrfsTer?
XM_011541500.3:c.966_967del	XP_011539802.1:p.Gly323ThrfsTer?
XM_011541501.2:c.966_967del	XP_011539803.1:p.Gly323ThrfsTer?
XM_011541502.2:c.966_967del	XP_011539804.1:p.Gly323ThrfsTer?
XM_011541503.2:c.966_967del	XP_011539805.1:p.Gly323ThrfsTer?
XM_011541504.2:c.957_958del	XP_011539806.1:p.Gly320ThrfsTer?
XM_011541505.2:c.546_547del	XP_011539807.1:p.Gly183ThrfsTer?
XM_011541506.2:c.546_547del	XP_011539808.1:p.Gly183ThrfsTer?
XM_017001331.1:c.966_967del	XP_016856820.1:p.Gly323ThrfsTer?
XM_017001332.1:c.966_967del	XP_016856821.1:p.Gly323ThrfsTer?
XM_017001333.1:c.966_967del	XP_016856822.1:p.Gly323ThrfsTer?
XM_017001334.1:c.927_928del	XP_016856823.1:p.Gly310ThrfsTer?
XM_017001335.1:c.648_649del	XP_016856824.1:p.Gly217ThrfsTer?
XM_017001336.1:c.579_580del	XP_016856825.1:p.Gly194ThrfsTer?
XM_017001337.1:c.579_580del	XP_016856826.1:p.Gly194ThrfsTer?
XM_024447244.1:c.579_580del	XP_024303012.1:p.Gly194ThrfsTer?
XM_024447245.1:c.579_580del	XP_024303013.1:p.Gly194ThrfsTer?
XM_024447248.1:c.537_538del	XP_024303016.1:p.Gly180ThrfsTer?
XM_024447249.1:c.408_409del	XP_024303017.1:p.Gly137ThrfsTer?
XM_024447250.1:c.408_409del	XP_024303018.1:p.Gly137ThrfsTer?
XM_024447251.1:c.408_409del	XP_024303019.1:p.Gly137ThrfsTer?
XR_001737190.1:n.969_970del
XR_001737192.1:n.781_782del
XR_002956643.1:n.961_962del
XR_002956644.1:n.1496_1497del
XR_946658.2:n.1069_1070del
NM_001048171.2:c.924_925del	NP_001041636.2:p.Gly309ThrfsTer?
NM_001128425.2:c.1008_1009del MANE Plus Clinical	NP_001121897.1:p.Gly337ThrfsTer?
NM_001048172.2:c.927_928del	NP_001041637.1:p.Gly310ThrfsTer?
NM_001048173.2:c.924_925del	NP_001041638.1:p.Gly309ThrfsTer?
NM_001048174.2:c.924_925del MANE Select	NP_001041639.1:p.Gly309ThrfsTer?
NM_001293190.2:c.969_970del	NP_001280119.1:p.Gly324ThrfsTer?
NM_001293191.2:c.957_958del	NP_001280120.1:p.Gly320ThrfsTer?
NM_001293192.2:c.648_649del	NP_001280121.1:p.Gly217ThrfsTer?
NM_001293195.2:c.924_925del	NP_001280124.1:p.Gly309ThrfsTer?
NM_001293196.2:c.648_649del	NP_001280125.1:p.Gly217ThrfsTer?
NM_001350650.2:c.579_580del	NP_001337579.1:p.Gly194ThrfsTer?
NM_001350651.2:c.579_580del	NP_001337580.1:p.Gly194ThrfsTer?
NM_012222.3:c.999_1000del	NP_036354.1:p.Gly334ThrfsTer?
NR_146882.2:n.1152_1153del
NR_146883.2:n.1001_1002del