Canonical Allele Identifier: CA2573132108

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 1465622
• ClinVar RCV Id: RCV001959305
• dbSNP Id: rs2149189490

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45334490_45334492dup , CM000663.2:g.45334490_45334492dup	GRCh38
NC_000001.10:g.45800162_45800164dup , CM000663.1:g.45800162_45800164dup	GRCh37
NC_000001.9:g.45572749_45572751dup	NCBI36
NG_008189.1:g.10979_10981dup , LRG_220:g.10979_10981dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-1658_37-1656dup	ENSP00000410263.2:n.37-1658_37-1656dup
ENST00000435155.2:c.14_16dup	ENSP00000403655.2:p.Arg5_Ala6insGly
ENST00000467459.6:c.14_16dup	ENSP00000435889.2:p.Arg5_Ala6insGly
ENST00000483127.2:c.32_34dup	ENSP00000436469.2:p.Arg11_Ala12insGly
ENST00000485271.6:c.14_16dup	ENSP00000431264.2:p.Arg5_Ala6insGly
ENST00000529892.6:c.56_58dup	ENSP00000432528.2:p.Arg19_Ala20insGly
ENST00000533178.6:c.14_16dup	ENSP00000436430.2:p.Arg5_Ala6insGly
ENST00000672314.2:c.14_16dup	ENSP00000500828.2:p.Arg5_Ala6insGly
ENST00000674679.2:c.14_16dup	ENSP00000501623.2:p.Arg5_Ala6insGly
ENST00000710952.2:c.56_58dup MANE Plus Clinical	ENSP00000518552.2:p.Arg19_Ala20insGly
ENST00000672818.3:c.56_58dup	ENSP00000500891.1:p.Arg19_Ala20insGly
ENST00000450313.6:c.56_58dup	ENSP00000408176.2:p.Arg19_Ala20insGly
ENST00000456914.7:c.14_16dup MANE Select	ENSP00000407590.2:p.Arg5_Ala6insGly
ENST00000461495.6:c.56_58dup	ENSP00000437166.1:p.Arg19_Ala20insGly
ENST00000671856.1:n.34_36dup
ENST00000671898.1:c.560_562dup	ENSP00000499896.1:p.Arg187_Ala188insGly
ENST00000672011.1:c.56_58dup	ENSP00000500418.1:p.Arg19_Ala20insGly
ENST00000672314.1:c.14_16dup	ENSP00000500828.1:p.Arg5_Ala6insGly
ENST00000672593.1:c.14_16dup	ENSP00000500455.1:p.Arg5_Ala6insGly
ENST00000672764.1:c.14_16dup	ENSP00000500886.1:p.Arg5_Ala6insGly
ENST00000672818.2:c.56_58dup	ENSP00000500891.1:p.Arg19_Ala20insGly
ENST00000673134.1:c.14_16dup	ENSP00000500526.1:p.Arg5_Ala6insGly
ENST00000354383.10:c.14_16dup	ENSP00000346354.6:p.Arg5_Ala6insGly
ENST00000355498.6:c.14_16dup	ENSP00000347685.2:p.Arg5_Ala6insGly
ENST00000372098.7:c.56_58dup	ENSP00000361170.3:p.Arg19_Ala20insGly
ENST00000372104.5:c.14_16dup	ENSP00000361176.1:p.Arg5_Ala6insGly
ENST00000372110.7:c.56_58dup	ENSP00000361182.3:p.Arg19_Ala20insGly
ENST00000372115.7:c.56_58dup	ENSP00000361187.3:p.Arg19_Ala20insGly
ENST00000412971.5:c.37-1658_37-1656dup	ENSP00000410263.1:n.37-1658_37-1656dup
ENST00000435155.1:c.14_16dup	ENSP00000403655.1:p.Arg5_Ala6insGly
ENST00000448481.5:c.14_16dup	ENSP00000409718.1:p.Arg5_Ala6insGly
ENST00000450313.5:c.56_58dup	ENSP00000408176.1:p.Arg19_Ala20insGly
ENST00000456914.6:c.14_16dup	ENSP00000407590.2:p.Arg5_Ala6insGly
ENST00000461495.5:c.56_58dup	ENSP00000437166.1:p.Arg19_Ala20insGly
ENST00000462387.5:n.234_236dup
ENST00000467940.5:c.72_74dup	ENSP00000436478.1:p.Thr24_Ser25insArg
ENST00000470256.5:c.14_16dup	ENSP00000434985.1:p.Arg5_Ala6insGly
ENST00000474703.1:n.136_138dup
ENST00000475516.5:c.14_16dup	ENSP00000433843.1:p.Arg5_Ala6insGly
ENST00000476789.5:n.234_236dup
ENST00000479746.6:n.77_79dup
ENST00000481139.5:n.217_219dup
ENST00000481571.5:c.56_58dup	ENSP00000436597.1:p.Arg19_Ala20insGly
ENST00000483127.1:c.32_34dup	ENSP00000436469.1:p.Arg11_Ala12insGly
ENST00000483642.5:n.195_197dup
ENST00000485484.5:n.64_66dup
ENST00000488731.6:c.14_16dup	ENSP00000432330.1:p.Arg5_Ala6insGly
ENST00000492494.5:n.77_79dup
ENST00000525160.5:c.56_58dup	ENSP00000431568.1:p.Arg19_Ala20insGly
ENST00000528013.6:c.14_16dup	ENSP00000433130.2:p.Arg5_Ala6insGly
ENST00000529984.5:c.14_16dup	ENSP00000437093.1:p.Arg5_Ala6insGly
ENST00000531105.5:c.14_16dup	ENSP00000431292.1:p.Arg5_Ala6insGly
ENST00000533178.5:c.20_22dup	ENSP00000436430.1:p.Arg7_Ala8insGly
ENST00000534453.1:n.280_282dup
NM_001048171.1:c.56_58dup	NP_001041636.1:p.Arg19_Ala20insGly
NM_001048172.1:c.14_16dup	NP_001041637.1:p.Arg5_Ala6insGly
NM_001048173.1:c.14_16dup	NP_001041638.1:p.Arg5_Ala6insGly
NM_001048174.1:c.14_16dup	NP_001041639.1:p.Arg5_Ala6insGly
NM_001128425.1:c.56_58dup , LRG_220t1:c.56_58dup	NP_001121897.1:p.Arg19_Ala20insGly
NM_001293190.1:c.56_58dup	NP_001280119.1:p.Arg19_Ala20insGly
NM_001293191.1:c.14_16dup	NP_001280120.1:p.Arg5_Ala6insGly
NM_001293192.1:c.-199_-197dup	NP_001280121.1:n.-199_-197dup
NM_001293195.1:c.14_16dup	NP_001280124.1:p.Arg5_Ala6insGly
NM_001293196.1:c.-199_-197dup	NP_001280125.1:n.-199_-197dup
NM_012222.2:c.56_58dup	NP_036354.1:p.Arg19_Ala20insGly
XM_011541497.1:c.32_34dup	XP_011539799.1:p.Arg11_Ala12insGly
XM_011541498.1:c.14_16dup	XP_011539800.1:p.Arg5_Ala6insGly
XM_011541499.1:c.14_16dup	XP_011539801.1:p.Arg5_Ala6insGly
XM_011541500.1:c.14_16dup	XP_011539802.1:p.Arg5_Ala6insGly
XM_011541501.1:c.14_16dup	XP_011539803.1:p.Arg5_Ala6insGly
XM_011541502.1:c.14_16dup	XP_011539804.1:p.Arg5_Ala6insGly
XM_011541503.1:c.56_58dup	XP_011539805.1:p.Arg19_Ala20insGly
XM_011541504.1:c.14_16dup	XP_011539806.1:p.Arg5_Ala6insGly
XM_011541505.1:c.-60_-58dup	XP_011539807.1:n.-60_-58dup
XM_011541506.1:c.-60_-58dup	XP_011539808.1:n.-60_-58dup
XR_946658.1:n.103_105dup
NM_001350650.1:c.-258_-256dup	NP_001337579.1:n.-258_-256dup
NM_001350651.1:c.-194_-192dup	NP_001337580.1:n.-194_-192dup
NR_146882.1:n.272_274dup
NR_146883.1:n.160_162dup
XM_011541497.3:c.32_34dup	XP_011539799.1:p.Arg11_Ala12insGly
XM_011541500.3:c.14_16dup	XP_011539802.1:p.Arg5_Ala6insGly
XM_011541501.2:c.14_16dup	XP_011539803.1:p.Arg5_Ala6insGly
XM_011541502.2:c.14_16dup	XP_011539804.1:p.Arg5_Ala6insGly
XM_011541503.2:c.56_58dup	XP_011539805.1:p.Arg19_Ala20insGly
XM_011541504.2:c.14_16dup	XP_011539806.1:p.Arg5_Ala6insGly
XM_011541505.2:c.-60_-58dup	XP_011539807.1:n.-60_-58dup
XM_011541506.2:c.-60_-58dup	XP_011539808.1:n.-60_-58dup
XM_017001331.1:c.14_16dup	XP_016856820.1:p.Arg5_Ala6insGly
XM_017001332.1:c.14_16dup	XP_016856821.1:p.Arg5_Ala6insGly
XM_017001333.1:c.14_16dup	XP_016856822.1:p.Arg5_Ala6insGly
XM_017001334.1:c.14_16dup	XP_016856823.1:p.Arg5_Ala6insGly
XM_017001335.1:c.-199_-197dup	XP_016856824.1:n.-199_-197dup
XM_017001336.1:c.-291_-289dup	XP_016856825.1:n.-291_-289dup
XM_017001337.1:c.-291_-289dup	XP_016856826.1:n.-291_-289dup
XM_024447244.1:c.-300_-298dup	XP_024303012.1:n.-300_-298dup
XM_024447245.1:c.-261_-259dup	XP_024303013.1:n.-261_-259dup
XM_024447248.1:c.-258_-256dup	XP_024303016.1:n.-258_-256dup
XM_024447249.1:c.-754_-752dup	XP_024303017.1:n.-754_-752dup
XM_024447250.1:c.-757_-755dup	XP_024303018.1:n.-757_-755dup
XM_024447251.1:c.-448_-446dup	XP_024303019.1:n.-448_-446dup
XR_001737190.1:n.123_125dup
XR_001737192.1:n.51_53dup
XR_002956643.1:n.231_233dup
XR_002956644.1:n.249_251dup
XR_946658.2:n.117_119dup
NM_001048171.2:c.14_16dup	NP_001041636.2:p.Arg5_Ala6insGly
NM_001128425.2:c.56_58dup MANE Plus Clinical	NP_001121897.1:p.Arg19_Ala20insGly
NM_001048172.2:c.14_16dup	NP_001041637.1:p.Arg5_Ala6insGly
NM_001048173.2:c.14_16dup	NP_001041638.1:p.Arg5_Ala6insGly
NM_001048174.2:c.14_16dup MANE Select	NP_001041639.1:p.Arg5_Ala6insGly
NM_001293190.2:c.56_58dup	NP_001280119.1:p.Arg19_Ala20insGly
NM_001293191.2:c.14_16dup	NP_001280120.1:p.Arg5_Ala6insGly
NM_001293192.2:c.-199_-197dup	NP_001280121.1:n.-199_-197dup
NM_001293195.2:c.14_16dup	NP_001280124.1:p.Arg5_Ala6insGly
NM_001293196.2:c.-199_-197dup	NP_001280125.1:n.-199_-197dup
NM_001350650.2:c.-258_-256dup	NP_001337579.1:n.-258_-256dup
NM_001350651.2:c.-194_-192dup	NP_001337580.1:n.-194_-192dup
NM_012222.3:c.56_58dup	NP_036354.1:p.Arg19_Ala20insGly
NR_146882.2:n.242_244dup
NR_146883.2:n.165_167dup