Canonical Allele Identifier: CA012329
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90379
ClinVar RCV Id: RCV000075870
dbSNP Id: rs267607799

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37017506_37017509del , CM000665.2:g.37017506_37017509del GRCh38
NC_000003.11:g.37058997_37059000del , CM000665.1:g.37058997_37059000del GRCh37
NC_000003.10:g.37034001_37034004del NCBI36
NG_007109.2:g.29157_29160del , LRG_216:g.29157_29160del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.791_794del
ENST00000429117.6:c.497_500del
ENST00000450420.6:c.791_794del
ENST00000456676.7:c.791_794del
ENST00000458009.6:c.791_794del
ENST00000492474.6:c.68_71del
ENST00000616768.6:c.791_794del
ENST00000673673.2:c.791_794del
ENST00000231790.8:c.791_794del
ENST00000413212.2:c.67+2962_67+2965del ENSP00000400844.2:n.67+2962_67+2965del
ENST00000432299.6:c.*870+2962_*870+2965del ENSP00000416783.1:n.*870+2962_*870+2965de...
ENST00000441265.6:c.68_71del
ENST00000442249.6:n.693-2804_693-2801del
ENST00000447829.6:c.428-2804_428-2801del ENSP00000399329.2:n.428-2804_428-2801del
ENST00000539477.6:c.68_71del
ENST00000673673.1:c.744_747del
ENST00000673713.1:n.822_825del
ENST00000673715.1:c.791_794del
ENST00000673889.1:n.173_176del
ENST00000673897.1:c.*583_*586del
ENST00000673899.1:c.677+5407_677+5410del ENSP00000501030.1:n.677+5407_677+5410del
ENST00000673947.1:c.*931_*934del
ENST00000673972.1:c.*669_*672del
ENST00000673990.1:n.776-2804_776-2801del
ENST00000674019.1:c.68_71del
ENST00000674107.1:n.733-2804_733-2801del
ENST00000674111.1:c.791_794del
ENST00000231790.6:c.791_794del
ENST00000413212.1:c.113+2962_113+2965del
ENST00000435176.5:c.497_500del
ENST00000441265.5:c.68_71del
ENST00000447829.5:c.172-2804_172-2801del
ENST00000455445.6:c.68_71del
ENST00000456676.6:c.766_769del
ENST00000458009.5:c.132_135del
ENST00000458205.6:c.68_71del
ENST00000536378.5:c.68_71del
ENST00000539477.5:c.68_71del
NM_000249.3:c.791_794del , LRG_216t1:c.791_794del
NM_001167617.1:c.497_500del
NM_001167618.1:c.68_71del
NM_001167619.1:c.68_71del
NM_001258271.1:c.791_794del
NM_001258273.1:c.68_71del
NM_001258274.1:c.68_71del
XM_005265161.1:c.678-2804_678-2801del XP_005265218.1:n.678-2804_678-2801del
XM_005265163.1:c.68_71del
XM_005265164.1:c.68_71del
XM_005265166.1:c.-139-2804_-139-2801del XP_005265223.1:n.-139-2804_-139-2801del
XM_011533727.1:c.-37+2962_-37+2965del XP_011532029.1:n.-37+2962_-37+2965del
NM_001167617.2:c.497_500del
NM_001167618.2:c.68_71del
NM_001167619.2:c.68_71del
NM_001258274.2:c.68_71del
NM_001354615.1:c.68_71del
NM_001354616.1:c.68_71del
NM_001354617.1:c.68_71del
NM_001354618.1:c.68_71del
NM_001354619.1:c.68_71del
NM_001354620.1:c.497_500del
NM_001354621.1:c.-139-2804_-139-2801del NP_001341550.1:n.-139-2804_-139-2801del
NM_001354622.1:c.-139-2804_-139-2801del NP_001341551.1:n.-139-2804_-139-2801del
NM_001354623.1:c.-139-2804_-139-2801del NP_001341552.1:n.-139-2804_-139-2801del
NM_001354624.1:c.-37+2962_-37+2965del NP_001341553.1:n.-37+2962_-37+2965del
NM_001354625.1:c.-37+2962_-37+2965del NP_001341554.1:n.-37+2962_-37+2965del
NM_001354626.1:c.-37+2962_-37+2965del NP_001341555.1:n.-37+2962_-37+2965del
NM_001354627.1:c.-37+2962_-37+2965del NP_001341556.1:n.-37+2962_-37+2965del
NM_001354628.1:c.791_794del
NM_001354629.1:c.692_695del
NM_001354630.1:c.791_794del
XM_005265161.2:c.678-2804_678-2801del XP_005265218.1:n.678-2804_678-2801del
XM_017006450.2:c.-139-2804_-139-2801del XP_016861939.1:n.-139-2804_-139-2801del
NM_000249.4:c.791_794del
NM_001167617.3:c.497_500del
NM_001167618.3:c.68_71del
NM_001167619.3:c.68_71del
NM_001258271.2:c.791_794del
NM_001258273.2:c.68_71del
NM_001258274.3:c.68_71del
NM_001354615.2:c.68_71del
NM_001354616.2:c.68_71del
NM_001354617.2:c.68_71del
NM_001354618.2:c.68_71del
NM_001354619.2:c.68_71del
NM_001354620.2:c.497_500del
NM_001354621.2:c.-139-2804_-139-2801del NP_001341550.1:n.-139-2804_-139-2801del
NM_001354622.2:c.-139-2804_-139-2801del NP_001341551.1:n.-139-2804_-139-2801del
NM_001354623.2:c.-139-2804_-139-2801del NP_001341552.1:n.-139-2804_-139-2801del
NM_001354624.2:c.-37+2962_-37+2965del NP_001341553.1:n.-37+2962_-37+2965del
NM_001354625.2:c.-37+2962_-37+2965del NP_001341554.1:n.-37+2962_-37+2965del
NM_001354626.2:c.-37+2962_-37+2965del NP_001341555.1:n.-37+2962_-37+2965del
NM_001354627.2:c.-37+2962_-37+2965del NP_001341556.1:n.-37+2962_-37+2965del
NM_001354628.2:c.791_794del
NM_001354629.2:c.692_695del
NM_001354630.2:c.791_794del