Canonical Allele Identifier: CA008483
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90026
ClinVar RCV Id: RCV000075511

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37048992_37050554del , CM000665.2:g.37048992_37050554del GRCh38
NC_000003.11:g.37090483_37092045del , CM000665.1:g.37090483_37092045del GRCh37
NC_000003.10:g.37065487_37067049del NCBI36
NG_007109.2:g.60643_62205del , LRG_216:g.60643_62205del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1668-1494_1736del
ENST00000429117.6:c.1784_1878del
ENST00000456676.7:c.1896+1309_1965del
ENST00000492474.6:c.1355_1449del
ENST00000616768.6:c.1985_2079del
ENST00000673673.2:c.1913_2007del
ENST00000231790.8:c.2078_2172del
ENST00000413212.2:c.*996_*1090del
ENST00000432299.6:c.*1910_*2004del
ENST00000447829.6:c.*1189_*1283del
ENST00000539477.6:c.1355_1449del
ENST00000616768.5:c.1022_1116del
ENST00000673673.1:c.1866_1960del
ENST00000673741.1:n.1112_1206del
ENST00000673889.1:n.1460_1554del
ENST00000673897.1:c.*1870_*1964del
ENST00000673899.1:c.1346_1440del
ENST00000673947.1:c.*2218_*2312del
ENST00000673972.1:c.*1956_*2050del
ENST00000674019.1:c.1355_1449del
ENST00000674111.1:c.*307_*401del
ENST00000674125.1:n.789_883del
ENST00000231790.6:c.2078_2172del
ENST00000435176.5:c.1784_1878del
ENST00000455445.6:c.1355_1449del
ENST00000456676.6:c.1871+1309_1940del
ENST00000458205.6:c.1355_1449del
ENST00000536378.5:c.1355_1449del
ENST00000539477.5:c.1355_1449del
NM_000249.3:c.2078_2172del , LRG_216t1:c.2078_2172del
NM_001167617.1:c.1784_1878del
NM_001167618.1:c.1355_1449del
NM_001167619.1:c.1355_1449del
NM_001258271.1:c.1896+1309_1965del
NM_001258273.1:c.1355_1449del
NM_001258274.1:c.1355_1449del
XM_005265161.1:c.1871_1965del
XM_005265163.1:c.1355_1449del
XM_005265164.1:c.1355_1449del
XM_005265166.1:c.1055_1149del
XM_011533727.1:c.1004_1098del
NM_001167617.2:c.1784_1878del
NM_001167618.2:c.1355_1449del
NM_001167619.2:c.1355_1449del
NM_001258274.2:c.1355_1449del
NM_001354615.1:c.1355_1449del
NM_001354616.1:c.1355_1449del
NM_001354617.1:c.1355_1449del
NM_001354618.1:c.1355_1449del
NM_001354619.1:c.1355_1449del
NM_001354620.1:c.1784_1878del
NM_001354621.1:c.1055_1149del
NM_001354622.1:c.1055_1149del
NM_001354623.1:c.1055_1149del
NM_001354624.1:c.1004_1098del
NM_001354625.1:c.1004_1098del
NM_001354626.1:c.1004_1098del
NM_001354627.1:c.1004_1098del
NM_001354628.1:c.1985_2079del
NM_001354629.1:c.1979_2073del
NM_001354630.1:c.1913_2007del
XM_005265161.2:c.1871_1965del
XM_017006450.2:c.1055_1149del
NM_000249.4:c.2078_2172del
NM_001167617.3:c.1784_1878del
NM_001167618.3:c.1355_1449del
NM_001167619.3:c.1355_1449del
NM_001258271.2:c.1896+1309_1965del
NM_001258273.2:c.1355_1449del
NM_001258274.3:c.1355_1449del
NM_001354615.2:c.1355_1449del
NM_001354616.2:c.1355_1449del
NM_001354617.2:c.1355_1449del
NM_001354618.2:c.1355_1449del
NM_001354619.2:c.1355_1449del
NM_001354620.2:c.1784_1878del
NM_001354621.2:c.1055_1149del
NM_001354622.2:c.1055_1149del
NM_001354623.2:c.1055_1149del
NM_001354624.2:c.1004_1098del
NM_001354625.2:c.1004_1098del
NM_001354626.2:c.1004_1098del
NM_001354627.2:c.1004_1098del
NM_001354628.2:c.1985_2079del
NM_001354629.2:c.1979_2073del
NM_001354630.2:c.1913_2007del