Canonical Allele Identifier: CA057431

Gene: MUTYH

Linked Data

• dbSNP Id: rs779483297
• ExAC: 1:45799057 CCACT / C
• gnomAD v2: 1-45799057-CCACT-C
• gnomAD v4: 1-45333385-CCACT-C
• MyVariant Identifiers: chr1:g.45799058_45799061del (hg19) ; chr1:g.45333386_45333389del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45333386_45333389del , CM000663.2:g.45333386_45333389del	GRCh38
NC_000001.10:g.45799058_45799061del , CM000663.1:g.45799058_45799061del	GRCh37
NC_000001.9:g.45571645_45571648del	NCBI36
NG_008189.1:g.12082_12085del , LRG_220:g.12082_12085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.37-555_37-552del	ENSP00000410263.2:n.37-555_37-552del
ENST00000435155.2:c.297+24_297+27del	ENSP00000403655.2:n.297+24_297+27del
ENST00000467459.6:c.264+24_264+27del	ENSP00000435889.2:n.264+24_264+27del
ENST00000483127.2:c.282+24_282+27del	ENSP00000436469.2:n.282+24_282+27del
ENST00000485271.6:c.264+24_264+27del	ENSP00000431264.2:n.264+24_264+27del
ENST00000529892.6:c.306+24_306+27del	ENSP00000432528.2:n.306+24_306+27del
ENST00000533178.6:c.116-702_116-699del	ENSP00000436430.2:n.116-702_116-699del
ENST00000672314.2:c.264+24_264+27del	ENSP00000500828.2:n.264+24_264+27del
ENST00000674679.2:c.*176+24_*176+27del	ENSP00000501623.2:n.*176+24_*176+27del
ENST00000710952.2:c.348+24_348+27del MANE Plus Clinical	ENSP00000518552.2:n.348+24_348+27del
ENST00000672818.3:c.339+24_339+27del	ENSP00000500891.1:n.339+24_339+27del
ENST00000450313.6:c.348+24_348+27del	ENSP00000408176.2:n.348+24_348+27del
ENST00000456914.7:c.264+24_264+27del MANE Select	ENSP00000407590.2:n.264+24_264+27del
ENST00000461495.6:c.*77+24_*77+27del	ENSP00000437166.1:n.*77+24_*77+27del
ENST00000671856.1:n.284+24_284+27del
ENST00000671898.1:c.852+24_852+27del	ENSP00000499896.1:n.852+24_852+27del
ENST00000672011.1:c.306+24_306+27del	ENSP00000500418.1:n.306+24_306+27del
ENST00000672314.1:c.264+24_264+27del	ENSP00000500828.1:n.264+24_264+27del
ENST00000672593.1:c.*77+24_*77+27del	ENSP00000500455.1:n.*77+24_*77+27del
ENST00000672764.1:c.297+24_297+27del	ENSP00000500886.1:n.297+24_297+27del
ENST00000672818.2:c.339+24_339+27del	ENSP00000500891.1:n.339+24_339+27del
ENST00000673134.1:c.*77+24_*77+27del	ENSP00000500526.1:n.*77+24_*77+27del
ENST00000674679.1:c.292+24_292+27del	ENSP00000501623.1:n.292+24_292+27del
ENST00000354383.10:c.267+24_267+27del	ENSP00000346354.6:n.267+24_267+27del
ENST00000355498.6:c.264+24_264+27del	ENSP00000347685.2:n.264+24_264+27del
ENST00000372098.7:c.339+24_339+27del	ENSP00000361170.3:n.339+24_339+27del
ENST00000372104.5:c.264+24_264+27del	ENSP00000361176.1:n.264+24_264+27del
ENST00000372110.7:c.309+24_309+27del	ENSP00000361182.3:n.309+24_309+27del
ENST00000372115.7:c.306+24_306+27del	ENSP00000361187.3:n.306+24_306+27del
ENST00000412971.5:c.37-555_37-552del	ENSP00000410263.1:n.37-555_37-552del
ENST00000435155.1:c.297+24_297+27del	ENSP00000403655.1:n.297+24_297+27del
ENST00000448481.5:c.297+24_297+27del	ENSP00000409718.1:n.297+24_297+27del
ENST00000450313.5:c.348+24_348+27del	ENSP00000408176.1:n.348+24_348+27del
ENST00000456914.6:c.264+24_264+27del	ENSP00000407590.2:n.264+24_264+27del
ENST00000461495.5:c.*77+24_*77+27del	ENSP00000437166.1:n.*77+24_*77+27del
ENST00000462387.5:n.336-65_336-62del
ENST00000467940.5:c.*187+24_*187+27del	ENSP00000436478.1:n.*187+24_*187+27del
ENST00000470256.5:c.267+24_267+27del	ENSP00000434985.1:n.267+24_267+27del
ENST00000474703.1:n.419+24_419+27del
ENST00000475516.5:c.*77+24_*77+27del	ENSP00000433843.1:n.*77+24_*77+27del
ENST00000476789.5:n.484+24_484+27del
ENST00000479746.6:n.327+24_327+27del
ENST00000481139.5:n.403+24_403+27del
ENST00000481571.5:c.*77+24_*77+27del	ENSP00000436597.1:n.*77+24_*77+27del
ENST00000483642.5:n.445+24_445+27del
ENST00000485484.5:n.314+24_314+27del
ENST00000488731.6:c.116-555_116-552del	ENSP00000432330.1:n.116-555_116-552del
ENST00000492494.5:n.327+24_327+27del
ENST00000525160.5:c.158-65_158-62del	ENSP00000431568.1:n.158-65_158-62del
ENST00000528013.6:c.306+24_306+27del	ENSP00000433130.2:n.306+24_306+27del
ENST00000529984.5:c.116-555_116-552del	ENSP00000437093.1:n.116-555_116-552del
ENST00000531105.5:c.115+1002_115+1005del	ENSP00000431292.1:n.115+1002_115+1005del
ENST00000533178.5:c.122-702_122-699del	ENSP00000436430.1:n.122-702_122-699del
NM_001048171.1:c.306+24_306+27del	NP_001041636.1:n.306+24_306+27del
NM_001048172.1:c.267+24_267+27del	NP_001041637.1:n.267+24_267+27del
NM_001048173.1:c.264+24_264+27del	NP_001041638.1:n.264+24_264+27del
NM_001048174.1:c.264+24_264+27del	NP_001041639.1:n.264+24_264+27del
NM_001128425.1:c.348+24_348+27del , LRG_220t1:c.348+24_348+27del	NP_001121897.1:n.348+24_348+27del
NM_001293190.1:c.309+24_309+27del	NP_001280119.1:n.309+24_309+27del
NM_001293191.1:c.297+24_297+27del	NP_001280120.1:n.297+24_297+27del
NM_001293192.1:c.-13+24_-13+27del	NP_001280121.1:n.-13+24_-13+27del
NM_001293195.1:c.264+24_264+27del	NP_001280124.1:n.264+24_264+27del
NM_001293196.1:c.-13+24_-13+27del	NP_001280125.1:n.-13+24_-13+27del
NM_012222.2:c.339+24_339+27del	NP_036354.1:n.339+24_339+27del
XM_011541497.1:c.324+24_324+27del	XP_011539799.1:n.324+24_324+27del
XM_011541498.1:c.306+24_306+27del	XP_011539800.1:n.306+24_306+27del
XM_011541499.1:c.306+24_306+27del	XP_011539801.1:n.306+24_306+27del
XM_011541500.1:c.306+24_306+27del	XP_011539802.1:n.306+24_306+27del
XM_011541501.1:c.306+24_306+27del	XP_011539803.1:n.306+24_306+27del
XM_011541502.1:c.306+24_306+27del	XP_011539804.1:n.306+24_306+27del
XM_011541503.1:c.348+24_348+27del	XP_011539805.1:n.348+24_348+27del
XM_011541504.1:c.297+24_297+27del	XP_011539806.1:n.297+24_297+27del
XM_011541505.1:c.43-555_43-552del	XP_011539807.1:n.43-555_43-552del
XM_011541506.1:c.43-555_43-552del	XP_011539808.1:n.43-555_43-552del
XR_946658.1:n.395+24_395+27del
NM_001350650.1:c.-8+24_-8+27del	NP_001337579.1:n.-8+24_-8+27del
NM_001350651.1:c.-8+24_-8+27del	NP_001337580.1:n.-8+24_-8+27del
NR_146882.1:n.522+24_522+27del
NR_146883.1:n.410+24_410+27del
XM_011541497.3:c.324+24_324+27del	XP_011539799.1:n.324+24_324+27del
XM_011541500.3:c.306+24_306+27del	XP_011539802.1:n.306+24_306+27del
XM_011541501.2:c.306+24_306+27del	XP_011539803.1:n.306+24_306+27del
XM_011541502.2:c.306+24_306+27del	XP_011539804.1:n.306+24_306+27del
XM_011541503.2:c.348+24_348+27del	XP_011539805.1:n.348+24_348+27del
XM_011541504.2:c.297+24_297+27del	XP_011539806.1:n.297+24_297+27del
XM_011541505.2:c.43-555_43-552del	XP_011539807.1:n.43-555_43-552del
XM_011541506.2:c.43-555_43-552del	XP_011539808.1:n.43-555_43-552del
XM_017001331.1:c.306+24_306+27del	XP_016856820.1:n.306+24_306+27del
XM_017001332.1:c.306+24_306+27del	XP_016856821.1:n.306+24_306+27del
XM_017001333.1:c.306+24_306+27del	XP_016856822.1:n.306+24_306+27del
XM_017001334.1:c.267+24_267+27del	XP_016856823.1:n.267+24_267+27del
XM_017001335.1:c.-13+24_-13+27del	XP_016856824.1:n.-13+24_-13+27del
XM_017001336.1:c.-8+24_-8+27del	XP_016856825.1:n.-8+24_-8+27del
XM_017001337.1:c.-8+24_-8+27del	XP_016856826.1:n.-8+24_-8+27del
XM_024447244.1:c.-8+24_-8+27del	XP_024303012.1:n.-8+24_-8+27del
XM_024447245.1:c.-8+24_-8+27del	XP_024303013.1:n.-8+24_-8+27del
XM_024447248.1:c.-8+24_-8+27del	XP_024303016.1:n.-8+24_-8+27del
XM_024447249.1:c.-504+24_-504+27del	XP_024303017.1:n.-504+24_-504+27del
XM_024447250.1:c.-504+24_-504+27del	XP_024303018.1:n.-504+24_-504+27del
XM_024447251.1:c.-262+24_-262+27del	XP_024303019.1:n.-262+24_-262+27del
XR_001737190.1:n.309+24_309+27del
XR_001737192.1:n.237+24_237+27del
XR_002956643.1:n.417+24_417+27del
XR_002956644.1:n.502+24_502+27del
XR_946658.2:n.409+24_409+27del
NM_001048171.2:c.264+24_264+27del	NP_001041636.2:n.264+24_264+27del
NM_001128425.2:c.348+24_348+27del MANE Plus Clinical	NP_001121897.1:n.348+24_348+27del
NM_001048172.2:c.267+24_267+27del	NP_001041637.1:n.267+24_267+27del
NM_001048173.2:c.264+24_264+27del	NP_001041638.1:n.264+24_264+27del
NM_001048174.2:c.264+24_264+27del MANE Select	NP_001041639.1:n.264+24_264+27del
NM_001293190.2:c.309+24_309+27del	NP_001280119.1:n.309+24_309+27del
NM_001293191.2:c.297+24_297+27del	NP_001280120.1:n.297+24_297+27del
NM_001293192.2:c.-13+24_-13+27del	NP_001280121.1:n.-13+24_-13+27del
NM_001293195.2:c.264+24_264+27del	NP_001280124.1:n.264+24_264+27del
NM_001293196.2:c.-13+24_-13+27del	NP_001280125.1:n.-13+24_-13+27del
NM_001350650.2:c.-8+24_-8+27del	NP_001337579.1:n.-8+24_-8+27del
NM_001350651.2:c.-8+24_-8+27del	NP_001337580.1:n.-8+24_-8+27del
NM_012222.3:c.339+24_339+27del	NP_036354.1:n.339+24_339+27del
NR_146882.2:n.492+24_492+27del
NR_146883.2:n.415+24_415+27del