Canonical Allele Identifier: CA058679

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 419912
• ClinVar RCV Id: RCV000480242 ; RCV000580554 ; RCV000708795
• dbSNP Id: rs765157527
• ExAC: 1:45798176 CAA / C
• gnomAD v2: 1-45798176-CAA-C
• gnomAD v4: 1-45332504-CAA-C
• MyVariant Identifiers: chr1:g.45798177_45798178del (hg19) ; chr1:g.45332505_45332506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45332506_45332507del , CM000663.2:g.45332506_45332507del	GRCh38
NC_000001.10:g.45798178_45798179del , CM000663.1:g.45798178_45798179del	GRCh37
NC_000001.9:g.45570765_45570766del	NCBI36
NG_008189.1:g.12965_12966del , LRG_220:g.12965_12966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.223-18_223-17del	ENSP00000410263.2:n.223-18_223-17del
ENST00000435155.2:c.640-18_640-17del	ENSP00000403655.2:n.640-18_640-17del
ENST00000467459.6:c.607-18_607-17del	ENSP00000435889.2:n.607-18_607-17del
ENST00000483127.2:c.625-18_625-17del	ENSP00000436469.2:n.625-18_625-17del
ENST00000485271.6:c.607-18_607-17del	ENSP00000431264.2:n.607-18_607-17del
ENST00000529892.6:c.649-18_649-17del	ENSP00000432528.2:n.649-18_649-17del
ENST00000533178.6:c.230-18_230-17del	ENSP00000436430.2:n.230-18_230-17del
ENST00000672314.2:c.607-18_607-17del	ENSP00000500828.2:n.607-18_607-17del
ENST00000674679.2:c.*519-18_*519-17del	ENSP00000501623.2:n.*519-18_*519-17del
ENST00000710952.2:c.691-18_691-17del MANE Plus Clinical	ENSP00000518552.2:n.691-18_691-17del
ENST00000672818.3:c.682-18_682-17del	ENSP00000500891.1:n.682-18_682-17del
ENST00000450313.6:c.617-18_617-17del	ENSP00000408176.2:n.617-18_617-17del
ENST00000456914.7:c.607-18_607-17del MANE Select	ENSP00000407590.2:n.607-18_607-17del
ENST00000461495.6:c.*346-18_*346-17del	ENSP00000437166.1:n.*346-18_*346-17del
ENST00000671898.1:c.1195-18_1195-17del	ENSP00000499896.1:n.1195-18_1195-17del
ENST00000672011.1:c.575-18_575-17del	ENSP00000500418.1:n.575-18_575-17del
ENST00000672314.1:c.607-18_607-17del	ENSP00000500828.1:n.607-18_607-17del
ENST00000672593.1:c.*562_*563del	ENSP00000500455.1:n.*562_*563del
ENST00000672764.1:c.566-18_566-17del	ENSP00000500886.1:n.566-18_566-17del
ENST00000672818.2:c.682-18_682-17del	ENSP00000500891.1:n.682-18_682-17del
ENST00000673134.1:c.*304-18_*304-17del	ENSP00000500526.1:n.*304-18_*304-17del
ENST00000674679.1:c.635-18_635-17del	ENSP00000501623.1:n.635-18_635-17del
ENST00000354383.10:c.610-18_610-17del	ENSP00000346354.6:n.610-18_610-17del
ENST00000355498.6:c.607-18_607-17del	ENSP00000347685.2:n.607-18_607-17del
ENST00000372098.7:c.682-18_682-17del	ENSP00000361170.3:n.682-18_682-17del
ENST00000372104.5:c.607-18_607-17del	ENSP00000361176.1:n.607-18_607-17del
ENST00000372110.7:c.652-18_652-17del	ENSP00000361182.3:n.652-18_652-17del
ENST00000372115.7:c.649-18_649-17del	ENSP00000361187.3:n.649-18_649-17del
ENST00000412971.5:c.223-18_223-17del	ENSP00000410263.1:n.223-18_223-17del
ENST00000435155.1:c.640-18_640-17del	ENSP00000403655.1:n.640-18_640-17del
ENST00000448481.5:c.640-18_640-17del	ENSP00000409718.1:n.640-18_640-17del
ENST00000450313.5:c.691-18_691-17del	ENSP00000408176.1:n.691-18_691-17del
ENST00000456914.6:c.607-18_607-17del	ENSP00000407590.2:n.607-18_607-17del
ENST00000461495.5:c.*346-18_*346-17del	ENSP00000437166.1:n.*346-18_*346-17del
ENST00000462388.5:n.298-18_298-17del
ENST00000467940.5:c.*530-18_*530-17del	ENSP00000436478.1:n.*530-18_*530-17del
ENST00000470256.5:c.494-18_494-17del	ENSP00000434985.1:n.494-18_494-17del
ENST00000475516.5:c.*420-18_*420-17del	ENSP00000433843.1:n.*420-18_*420-17del
ENST00000478796.5:n.594-18_594-17del
ENST00000481571.5:c.*420-18_*420-17del	ENSP00000436597.1:n.*420-18_*420-17del
ENST00000488731.6:c.187+257_187+258del	ENSP00000432330.1:n.187+257_187+258del
ENST00000525160.5:c.*258-18_*258-17del	ENSP00000431568.1:n.*258-18_*258-17del
ENST00000528013.6:c.649-18_649-17del	ENSP00000433130.2:n.649-18_649-17del
ENST00000529984.5:c.187+257_187+258del	ENSP00000437093.1:n.187+257_187+258del
ENST00000531105.5:c.115+1885_115+1886del	ENSP00000431292.1:n.115+1885_115+1886del
ENST00000533178.5:c.236-18_236-17del	ENSP00000436430.1:n.236-18_236-17del
NM_001048171.1:c.649-18_649-17del	NP_001041636.1:n.649-18_649-17del
NM_001048172.1:c.610-18_610-17del	NP_001041637.1:n.610-18_610-17del
NM_001048173.1:c.607-18_607-17del	NP_001041638.1:n.607-18_607-17del
NM_001048174.1:c.607-18_607-17del	NP_001041639.1:n.607-18_607-17del
NM_001128425.1:c.691-18_691-17del , LRG_220t1:c.691-18_691-17del	NP_001121897.1:n.691-18_691-17del
NM_001293190.1:c.652-18_652-17del	NP_001280119.1:n.652-18_652-17del
NM_001293191.1:c.640-18_640-17del	NP_001280120.1:n.640-18_640-17del
NM_001293192.1:c.331-18_331-17del	NP_001280121.1:n.331-18_331-17del
NM_001293195.1:c.607-18_607-17del	NP_001280124.1:n.607-18_607-17del
NM_001293196.1:c.331-18_331-17del	NP_001280125.1:n.331-18_331-17del
NM_012222.2:c.682-18_682-17del	NP_036354.1:n.682-18_682-17del
XM_011541497.1:c.667-18_667-17del	XP_011539799.1:n.667-18_667-17del
XM_011541498.1:c.649-18_649-17del	XP_011539800.1:n.649-18_649-17del
XM_011541499.1:c.649-18_649-17del	XP_011539801.1:n.649-18_649-17del
XM_011541500.1:c.649-18_649-17del	XP_011539802.1:n.649-18_649-17del
XM_011541501.1:c.649-18_649-17del	XP_011539803.1:n.649-18_649-17del
XM_011541502.1:c.649-18_649-17del	XP_011539804.1:n.649-18_649-17del
XM_011541503.1:c.649-18_649-17del	XP_011539805.1:n.649-18_649-17del
XM_011541504.1:c.640-18_640-17del	XP_011539806.1:n.640-18_640-17del
XM_011541505.1:c.229-18_229-17del	XP_011539807.1:n.229-18_229-17del
XM_011541506.1:c.229-18_229-17del	XP_011539808.1:n.229-18_229-17del
XM_011541507.1:c.220-18_220-17del	XP_011539809.1:n.220-18_220-17del
XM_011541508.1:c.235-18_235-17del	XP_011539810.1:n.235-18_235-17del
XR_946658.1:n.738-18_738-17del
NM_001350650.1:c.262-18_262-17del	NP_001337579.1:n.262-18_262-17del
NM_001350651.1:c.262-18_262-17del	NP_001337580.1:n.262-18_262-17del
NR_146882.1:n.865-18_865-17del
NR_146883.1:n.679-18_679-17del
XM_011541497.3:c.667-18_667-17del	XP_011539799.1:n.667-18_667-17del
XM_011541500.3:c.649-18_649-17del	XP_011539802.1:n.649-18_649-17del
XM_011541501.2:c.649-18_649-17del	XP_011539803.1:n.649-18_649-17del
XM_011541502.2:c.649-18_649-17del	XP_011539804.1:n.649-18_649-17del
XM_011541503.2:c.649-18_649-17del	XP_011539805.1:n.649-18_649-17del
XM_011541504.2:c.640-18_640-17del	XP_011539806.1:n.640-18_640-17del
XM_011541505.2:c.229-18_229-17del	XP_011539807.1:n.229-18_229-17del
XM_011541506.2:c.229-18_229-17del	XP_011539808.1:n.229-18_229-17del
XM_017001331.1:c.649-18_649-17del	XP_016856820.1:n.649-18_649-17del
XM_017001332.1:c.649-18_649-17del	XP_016856821.1:n.649-18_649-17del
XM_017001333.1:c.649-18_649-17del	XP_016856822.1:n.649-18_649-17del
XM_017001334.1:c.610-18_610-17del	XP_016856823.1:n.610-18_610-17del
XM_017001335.1:c.331-18_331-17del	XP_016856824.1:n.331-18_331-17del
XM_017001336.1:c.262-18_262-17del	XP_016856825.1:n.262-18_262-17del
XM_017001337.1:c.262-18_262-17del	XP_016856826.1:n.262-18_262-17del
XM_024447244.1:c.262-18_262-17del	XP_024303012.1:n.262-18_262-17del
XM_024447245.1:c.262-18_262-17del	XP_024303013.1:n.262-18_262-17del
XM_024447248.1:c.220-18_220-17del	XP_024303016.1:n.220-18_220-17del
XM_024447249.1:c.91-18_91-17del	XP_024303017.1:n.91-18_91-17del
XM_024447250.1:c.91-18_91-17del	XP_024303018.1:n.91-18_91-17del
XM_024447251.1:c.91-18_91-17del	XP_024303019.1:n.91-18_91-17del
XR_001737190.1:n.652-18_652-17del
XR_001737192.1:n.464-18_464-17del
XR_002956643.1:n.644-18_644-17del
XR_002956644.1:n.1179-18_1179-17del
XR_946658.2:n.752-18_752-17del
NM_001048171.2:c.607-18_607-17del	NP_001041636.2:n.607-18_607-17del
NM_001128425.2:c.691-18_691-17del MANE Plus Clinical	NP_001121897.1:n.691-18_691-17del
NM_001048172.2:c.610-18_610-17del	NP_001041637.1:n.610-18_610-17del
NM_001048173.2:c.607-18_607-17del	NP_001041638.1:n.607-18_607-17del
NM_001048174.2:c.607-18_607-17del MANE Select	NP_001041639.1:n.607-18_607-17del
NM_001293190.2:c.652-18_652-17del	NP_001280119.1:n.652-18_652-17del
NM_001293191.2:c.640-18_640-17del	NP_001280120.1:n.640-18_640-17del
NM_001293192.2:c.331-18_331-17del	NP_001280121.1:n.331-18_331-17del
NM_001293195.2:c.607-18_607-17del	NP_001280124.1:n.607-18_607-17del
NM_001293196.2:c.331-18_331-17del	NP_001280125.1:n.331-18_331-17del
NM_001350650.2:c.262-18_262-17del	NP_001337579.1:n.262-18_262-17del
NM_001350651.2:c.262-18_262-17del	NP_001337580.1:n.262-18_262-17del
NM_012222.3:c.682-18_682-17del	NP_036354.1:n.682-18_682-17del
NR_146882.2:n.835-18_835-17del
NR_146883.2:n.684-18_684-17del