Canonical Allele Identifier: CA2580062906
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 2088231
ClinVar RCV Id: RCV003000223

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45329362_45329523del , CM000663.2:g.45329362_45329523del GRCh38
NC_000001.10:g.45795034_45795195del , CM000663.1:g.45795034_45795195del GRCh37
NC_000001.9:g.45567621_45567782del NCBI36
NG_008189.1:g.15950_16111del , LRG_220:g.15950_16111del

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.1051-84_1128del
ENST00000435155.2:c.1468-84_1545del
ENST00000467459.6:c.*297-84_*374del
ENST00000483127.2:c.1453-84_1530del
ENST00000485271.6:c.*178-84_*255del
ENST00000529892.6:c.1288-84_1365del
ENST00000533178.6:c.*764-84_*841del
ENST00000672314.2:c.1435-84_1512del
ENST00000710952.2:c.1519-84_1596del
ENST00000672818.3:c.1510-84_1587del
ENST00000456914.7:c.1435-84_1512del
ENST00000671898.1:c.*178-84_*255del
ENST00000672011.1:c.*764-84_*841del
ENST00000672818.2:c.1510-84_1587del
ENST00000354383.10:c.1438-84_1515del
ENST00000355498.6:c.1435-84_1512del
ENST00000372098.7:c.1510-84_1587del
ENST00000372104.5:c.1435-84_1512del
ENST00000372110.7:c.1480-84_1557del
ENST00000372115.7:c.1477-84_1554del
ENST00000448481.5:c.1468-84_1545del
ENST00000450313.5:c.1519-84_1596del
ENST00000456914.6:c.1435-84_1512del
ENST00000467459.5:c.852-84_929del
ENST00000475516.5:c.*1248-84_*1325del
ENST00000481571.5:c.*1248-84_*1325del
ENST00000482094.5:n.756-84_833del
ENST00000485271.5:c.312-84_389del
ENST00000488731.6:c.520-84_597del
ENST00000528013.6:c.1477-84_1554del
ENST00000529892.5:c.510-84_587del
ENST00000529984.5:c.520-84_597del
ENST00000531105.5:c.116-84_*4del
ENST00000533178.5:c.1064-84_1141del
NM_001048171.1:c.1477-84_1554del
NM_001048172.1:c.1438-84_1515del
NM_001048173.1:c.1435-84_1512del
NM_001048174.1:c.1435-84_1512del
NM_001128425.1:c.1519-84_1596del , LRG_220t1:c.1519-84_1596del
NM_001293190.1:c.1480-84_1557del
NM_001293191.1:c.1468-84_1545del
NM_001293192.1:c.1159-84_1236del
NM_001293195.1:c.1435-84_1512del
NM_001293196.1:c.1159-84_1236del
NM_012222.2:c.1510-84_1587del
XM_011541497.1:c.1495-84_1572del
XM_011541498.1:c.1477-84_1554del
XM_011541499.1:c.1477-84_1554del
XM_011541500.1:c.1477-84_1554del
XM_011541501.1:c.1477-84_1554del
XM_011541502.1:c.1477-84_1554del
XM_011541503.1:c.1477-84_1554del
XM_011541504.1:c.1468-84_1545del
XM_011541505.1:c.1057-84_1134del
XM_011541506.1:c.1057-84_1134del
XM_011541507.1:c.1048-84_1125del
XM_011541508.1:c.1063-84_1140del
XR_946658.1:n.1746-84_1823del
NM_001350650.1:c.1090-84_1167del
NM_001350651.1:c.1090-84_1167del
NR_146882.1:n.1873-84_1950del
NR_146883.1:n.1687-84_1764del
XM_011541497.3:c.1495-84_1572del
XM_011541500.3:c.1477-84_1554del
XM_011541501.2:c.1477-84_1554del
XM_011541502.2:c.1477-84_1554del
XM_011541503.2:c.1477-84_1554del
XM_011541504.2:c.1468-84_1545del
XM_011541505.2:c.1057-84_1134del
XM_011541506.2:c.1057-84_1134del
XM_017001331.1:c.1477-84_1554del
XM_017001332.1:c.1477-84_1554del
XM_017001333.1:c.1477-84_1554del
XM_017001334.1:c.1438-84_1515del
XM_017001335.1:c.1159-84_1236del
XM_017001336.1:c.1090-84_1167del
XM_017001337.1:c.1090-84_1167del
XM_024447244.1:c.1090-84_1167del
XM_024447245.1:c.1090-84_1167del
XM_024447248.1:c.1048-84_1125del
XM_024447249.1:c.919-84_996del
XM_024447250.1:c.919-84_996del
XM_024447251.1:c.919-84_996del
XR_001737190.1:n.1660-84_1737del
XR_001737192.1:n.1472-84_1549del
XR_002956643.1:n.1652-84_1729del
XR_002956644.1:n.2187-84_2264del
XR_946658.2:n.1760-84_1837del
NM_001048171.2:c.1435-84_1512del
NM_001128425.2:c.1519-84_1596del
NM_001048172.2:c.1438-84_1515del
NM_001048173.2:c.1435-84_1512del
NM_001048174.2:c.1435-84_1512del
NM_001293190.2:c.1480-84_1557del
NM_001293191.2:c.1468-84_1545del
NM_001293192.2:c.1159-84_1236del
NM_001293195.2:c.1435-84_1512del
NM_001293196.2:c.1159-84_1236del
NM_001350650.2:c.1090-84_1167del
NM_001350651.2:c.1090-84_1167del
NM_012222.3:c.1510-84_1587del
NR_146882.2:n.1843-84_1920del
NR_146883.2:n.1692-84_1769del