Canonical Allele Identifier: CA056134

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 665447
• ClinVar RCV Id: RCV000823734 ; RCV001188696
• dbSNP Id: rs781479684
• ExAC: 1:45797010 GAGGA / G
• gnomAD v2: 1-45797010-GAGGA-G
• gnomAD v3: 1-45331338-GAGGA-G
• gnomAD v4: 1-45331338-GAGGA-G
• MyVariant Identifiers: chr1:g.45797011_45797014del (hg19) ; chr1:g.45331339_45331342del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331342_45331345del , CM000663.2:g.45331342_45331345del	GRCh38
NC_000001.10:g.45797014_45797017del , CM000663.1:g.45797014_45797017del	GRCh37
NC_000001.9:g.45569601_45569604del	NCBI36
NG_008189.1:g.14129_14132del , LRG_220:g.14129_14132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412971.6:c.856-8_856-5del	ENSP00000410263.2:n.856-8_856-5del
ENST00000435155.2:c.1273-8_1273-5del	ENSP00000403655.2:n.1273-8_1273-5del
ENST00000467459.6:c.*102-8_*102-5del	ENSP00000435889.2:n.*102-8_*102-5del
ENST00000483127.2:c.1258-8_1258-5del	ENSP00000436469.2:n.1258-8_1258-5del
ENST00000485271.6:c.1240-8_1240-5del	ENSP00000431264.2:n.1240-8_1240-5del
ENST00000529892.6:c.1093-8_1093-5del	ENSP00000432528.2:n.1093-8_1093-5del
ENST00000533178.6:c.*569-8_*569-5del	ENSP00000436430.2:n.*569-8_*569-5del
ENST00000672314.2:c.1240-8_1240-5del	ENSP00000500828.2:n.1240-8_1240-5del
ENST00000710952.2:c.1324-8_1324-5del MANE Plus Clinical	ENSP00000518552.2:n.1324-8_1324-5del
ENST00000672818.3:c.1315-8_1315-5del	ENSP00000500891.1:n.1315-8_1315-5del
ENST00000456914.7:c.1240-8_1240-5del MANE Select	ENSP00000407590.2:n.1240-8_1240-5del
ENST00000671898.1:c.1828-8_1828-5del	ENSP00000499896.1:n.1828-8_1828-5del
ENST00000672011.1:c.*569-8_*569-5del	ENSP00000500418.1:n.*569-8_*569-5del
ENST00000672314.1:c.1240-8_1240-5del	ENSP00000500828.1:n.1240-8_1240-5del
ENST00000672593.1:c.*1466-8_*1466-5del	ENSP00000500455.1:n.*1466-8_*1466-5del
ENST00000672818.2:c.1315-8_1315-5del	ENSP00000500891.1:n.1315-8_1315-5del
ENST00000673134.1:c.*937-8_*937-5del	ENSP00000500526.1:n.*937-8_*937-5del
ENST00000354383.10:c.1243-8_1243-5del	ENSP00000346354.6:n.1243-8_1243-5del
ENST00000355498.6:c.1240-8_1240-5del	ENSP00000347685.2:n.1240-8_1240-5del
ENST00000372098.7:c.1315-8_1315-5del	ENSP00000361170.3:n.1315-8_1315-5del
ENST00000372104.5:c.1240-8_1240-5del	ENSP00000361176.1:n.1240-8_1240-5del
ENST00000372110.7:c.1285-8_1285-5del	ENSP00000361182.3:n.1285-8_1285-5del
ENST00000372115.7:c.1282-8_1282-5del	ENSP00000361187.3:n.1282-8_1282-5del
ENST00000448481.5:c.1273-8_1273-5del	ENSP00000409718.1:n.1273-8_1273-5del
ENST00000450313.5:c.1324-8_1324-5del	ENSP00000408176.1:n.1324-8_1324-5del
ENST00000456914.6:c.1240-8_1240-5del	ENSP00000407590.2:n.1240-8_1240-5del
ENST00000467459.5:c.657-8_657-5del	ENSP00000435889.1:n.657-8_657-5del
ENST00000475516.5:c.*1053-8_*1053-5del	ENSP00000433843.1:n.*1053-8_*1053-5del
ENST00000481571.5:c.*1053-8_*1053-5del	ENSP00000436597.1:n.*1053-8_*1053-5del
ENST00000482094.5:n.561-8_561-5del
ENST00000488731.6:c.325-8_325-5del	ENSP00000432330.1:n.325-8_325-5del
ENST00000528013.6:c.1282-8_1282-5del	ENSP00000433130.2:n.1282-8_1282-5del
ENST00000529892.5:c.315-8_315-5del
ENST00000529984.5:c.325-8_325-5del	ENSP00000437093.1:n.325-8_325-5del
ENST00000531105.5:c.116-1905_116-1902del	ENSP00000431292.1:n.116-1905_116-1902del
ENST00000533178.5:c.869-8_869-5del	ENSP00000436430.1:n.869-8_869-5del
NM_001048171.1:c.1282-8_1282-5del	NP_001041636.1:n.1282-8_1282-5del
NM_001048172.1:c.1243-8_1243-5del	NP_001041637.1:n.1243-8_1243-5del
NM_001048173.1:c.1240-8_1240-5del	NP_001041638.1:n.1240-8_1240-5del
NM_001048174.1:c.1240-8_1240-5del	NP_001041639.1:n.1240-8_1240-5del
NM_001128425.1:c.1324-8_1324-5del , LRG_220t1:c.1324-8_1324-5del	NP_001121897.1:n.1324-8_1324-5del
NM_001293190.1:c.1285-8_1285-5del	NP_001280119.1:n.1285-8_1285-5del
NM_001293191.1:c.1273-8_1273-5del	NP_001280120.1:n.1273-8_1273-5del
NM_001293192.1:c.964-8_964-5del	NP_001280121.1:n.964-8_964-5del
NM_001293195.1:c.1240-8_1240-5del	NP_001280124.1:n.1240-8_1240-5del
NM_001293196.1:c.964-8_964-5del	NP_001280125.1:n.964-8_964-5del
NM_012222.2:c.1315-8_1315-5del	NP_036354.1:n.1315-8_1315-5del
XM_011541497.1:c.1300-8_1300-5del	XP_011539799.1:n.1300-8_1300-5del
XM_011541498.1:c.1282-8_1282-5del	XP_011539800.1:n.1282-8_1282-5del
XM_011541499.1:c.1282-8_1282-5del	XP_011539801.1:n.1282-8_1282-5del
XM_011541500.1:c.1282-8_1282-5del	XP_011539802.1:n.1282-8_1282-5del
XM_011541501.1:c.1282-8_1282-5del	XP_011539803.1:n.1282-8_1282-5del
XM_011541502.1:c.1282-8_1282-5del	XP_011539804.1:n.1282-8_1282-5del
XM_011541503.1:c.1282-8_1282-5del	XP_011539805.1:n.1282-8_1282-5del
XM_011541504.1:c.1273-8_1273-5del	XP_011539806.1:n.1273-8_1273-5del
XM_011541505.1:c.862-8_862-5del	XP_011539807.1:n.862-8_862-5del
XM_011541506.1:c.862-8_862-5del	XP_011539808.1:n.862-8_862-5del
XM_011541507.1:c.853-8_853-5del	XP_011539809.1:n.853-8_853-5del
XM_011541508.1:c.868-8_868-5del	XP_011539810.1:n.868-8_868-5del
XR_946658.1:n.1371-8_1371-5del
NM_001350650.1:c.895-8_895-5del	NP_001337579.1:n.895-8_895-5del
NM_001350651.1:c.895-8_895-5del	NP_001337580.1:n.895-8_895-5del
NR_146882.1:n.1498-8_1498-5del
NR_146883.1:n.1312-8_1312-5del
XM_011541497.3:c.1300-8_1300-5del	XP_011539799.1:n.1300-8_1300-5del
XM_011541500.3:c.1282-8_1282-5del	XP_011539802.1:n.1282-8_1282-5del
XM_011541501.2:c.1282-8_1282-5del	XP_011539803.1:n.1282-8_1282-5del
XM_011541502.2:c.1282-8_1282-5del	XP_011539804.1:n.1282-8_1282-5del
XM_011541503.2:c.1282-8_1282-5del	XP_011539805.1:n.1282-8_1282-5del
XM_011541504.2:c.1273-8_1273-5del	XP_011539806.1:n.1273-8_1273-5del
XM_011541505.2:c.862-8_862-5del	XP_011539807.1:n.862-8_862-5del
XM_011541506.2:c.862-8_862-5del	XP_011539808.1:n.862-8_862-5del
XM_017001331.1:c.1282-8_1282-5del	XP_016856820.1:n.1282-8_1282-5del
XM_017001332.1:c.1282-8_1282-5del	XP_016856821.1:n.1282-8_1282-5del
XM_017001333.1:c.1282-8_1282-5del	XP_016856822.1:n.1282-8_1282-5del
XM_017001334.1:c.1243-8_1243-5del	XP_016856823.1:n.1243-8_1243-5del
XM_017001335.1:c.964-8_964-5del	XP_016856824.1:n.964-8_964-5del
XM_017001336.1:c.895-8_895-5del	XP_016856825.1:n.895-8_895-5del
XM_017001337.1:c.895-8_895-5del	XP_016856826.1:n.895-8_895-5del
XM_024447244.1:c.895-8_895-5del	XP_024303012.1:n.895-8_895-5del
XM_024447245.1:c.895-8_895-5del	XP_024303013.1:n.895-8_895-5del
XM_024447248.1:c.853-8_853-5del	XP_024303016.1:n.853-8_853-5del
XM_024447249.1:c.724-8_724-5del	XP_024303017.1:n.724-8_724-5del
XM_024447250.1:c.724-8_724-5del	XP_024303018.1:n.724-8_724-5del
XM_024447251.1:c.724-8_724-5del	XP_024303019.1:n.724-8_724-5del
XR_001737190.1:n.1285-8_1285-5del
XR_001737192.1:n.1097-8_1097-5del
XR_002956643.1:n.1277-8_1277-5del
XR_002956644.1:n.1812-8_1812-5del
XR_946658.2:n.1385-8_1385-5del
NM_001048171.2:c.1240-8_1240-5del	NP_001041636.2:n.1240-8_1240-5del
NM_001128425.2:c.1324-8_1324-5del MANE Plus Clinical	NP_001121897.1:n.1324-8_1324-5del
NM_001048172.2:c.1243-8_1243-5del	NP_001041637.1:n.1243-8_1243-5del
NM_001048173.2:c.1240-8_1240-5del	NP_001041638.1:n.1240-8_1240-5del
NM_001048174.2:c.1240-8_1240-5del MANE Select	NP_001041639.1:n.1240-8_1240-5del
NM_001293190.2:c.1285-8_1285-5del	NP_001280119.1:n.1285-8_1285-5del
NM_001293191.2:c.1273-8_1273-5del	NP_001280120.1:n.1273-8_1273-5del
NM_001293192.2:c.964-8_964-5del	NP_001280121.1:n.964-8_964-5del
NM_001293195.2:c.1240-8_1240-5del	NP_001280124.1:n.1240-8_1240-5del
NM_001293196.2:c.964-8_964-5del	NP_001280125.1:n.964-8_964-5del
NM_001350650.2:c.895-8_895-5del	NP_001337579.1:n.895-8_895-5del
NM_001350651.2:c.895-8_895-5del	NP_001337580.1:n.895-8_895-5del
NM_012222.3:c.1315-8_1315-5del	NP_036354.1:n.1315-8_1315-5del
NR_146882.2:n.1468-8_1468-5del
NR_146883.2:n.1317-8_1317-5del