Canonical Allele Identifier: CA2695197864
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674460
ClinVar RCV Id: RCV003452655

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050538_37050539del , CM000665.2:g.37050538_37050539del GRCh38
NC_000003.11:g.37092029_37092030del , CM000665.1:g.37092029_37092030del GRCh37
NC_000003.10:g.37067033_37067034del NCBI36
NG_007109.2:g.62189_62190del , LRG_216:g.62189_62190del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1720_1721del ENSP00000416476.2:p.Leu574ValfsTer?
ENST00000429117.6:c.1862_1863del ENSP00000407019.2:p.Ile621SerfsTer3
ENST00000456676.7:c.1949_1950del ENSP00000416687.3:p.Ile650SerfsTer3
ENST00000492474.6:c.1433_1434del ENSP00000518393.1:p.Ile478SerfsTer3
ENST00000616768.6:c.2063_2064del ENSP00000480669.3:p.Ile688SerfsTer3
ENST00000673673.2:c.1991_1992del ENSP00000500979.2:p.Ile664SerfsTer3
ENST00000231790.8:c.2156_2157del MANE Select ENSP00000231790.3:p.Ile719SerfsTer3
ENST00000413212.2:c.*1074_*1075del ENSP00000400844.2:n.*1074_*1075del
ENST00000432299.6:c.*1988_*1989del ENSP00000416783.1:n.*1988_*1989del
ENST00000447829.6:c.*1267_*1268del ENSP00000399329.2:n.*1267_*1268del
ENST00000539477.6:c.1433_1434del ENSP00000443665.1:p.Ile478SerfsTer3
ENST00000616768.5:c.1100_1101del ENSP00000480669.2:p.Ile367SerfsTer3
ENST00000673673.1:c.1944_1945del
ENST00000673741.1:n.1190_1191del
ENST00000673889.1:n.1538_1539del
ENST00000673897.1:c.*1948_*1949del ENSP00000501109.1:n.*1948_*1949del
ENST00000673899.1:c.1424_1425del ENSP00000501030.1:p.Ile475SerfsTer3
ENST00000673947.1:c.*2296_*2297del ENSP00000501304.1:n.*2296_*2297del
ENST00000673972.1:c.*2034_*2035del ENSP00000501281.1:n.*2034_*2035del
ENST00000674019.1:c.1433_1434del ENSP00000501081.1:p.Ile478SerfsTer3
ENST00000674111.1:c.*385_*386del ENSP00000501162.1:n.*385_*386del
ENST00000674125.1:n.867_868del
ENST00000231790.6:c.2156_2157del ENSP00000231790.2:p.Ile719SerfsTer3
ENST00000435176.5:c.1862_1863del ENSP00000402564.1:p.Ile621SerfsTer3
ENST00000455445.6:c.1433_1434del ENSP00000398272.2:p.Ile478SerfsTer3
ENST00000456676.6:c.1924_1925del
ENST00000458205.6:c.1433_1434del ENSP00000402667.2:p.Ile478SerfsTer3
ENST00000536378.5:c.1433_1434del ENSP00000444286.2:p.Ile478SerfsTer3
ENST00000539477.5:c.1433_1434del ENSP00000443665.1:p.Ile478SerfsTer3
NM_000249.3:c.2156_2157del , LRG_216t1:c.2156_2157del NP_000240.1:p.Ile719SerfsTer3
NM_001167617.1:c.1862_1863del NP_001161089.1:p.Ile621SerfsTer3
NM_001167618.1:c.1433_1434del NP_001161090.1:p.Ile478SerfsTer3
NM_001167619.1:c.1433_1434del NP_001161091.1:p.Ile478SerfsTer3
NM_001258271.1:c.1949_1950del NP_001245200.1:p.Ile650SerfsTer3
NM_001258273.1:c.1433_1434del NP_001245202.1:p.Ile478SerfsTer3
NM_001258274.1:c.1433_1434del NP_001245203.1:p.Ile478SerfsTer3
XM_005265161.1:c.1949_1950del XP_005265218.1:p.Ile650SerfsTer3
XM_005265163.1:c.1433_1434del XP_005265220.1:p.Ile478SerfsTer3
XM_005265164.1:c.1433_1434del XP_005265221.1:p.Ile478SerfsTer3
XM_005265166.1:c.1133_1134del XP_005265223.1:p.Ile378SerfsTer3
XM_011533727.1:c.1082_1083del XP_011532029.1:p.Ile361SerfsTer3
NM_001167617.2:c.1862_1863del NP_001161089.1:p.Ile621SerfsTer3
NM_001167618.2:c.1433_1434del NP_001161090.1:p.Ile478SerfsTer3
NM_001167619.2:c.1433_1434del NP_001161091.1:p.Ile478SerfsTer3
NM_001258274.2:c.1433_1434del NP_001245203.1:p.Ile478SerfsTer3
NM_001354615.1:c.1433_1434del NP_001341544.1:p.Ile478SerfsTer3
NM_001354616.1:c.1433_1434del NP_001341545.1:p.Ile478SerfsTer3
NM_001354617.1:c.1433_1434del NP_001341546.1:p.Ile478SerfsTer3
NM_001354618.1:c.1433_1434del NP_001341547.1:p.Ile478SerfsTer3
NM_001354619.1:c.1433_1434del NP_001341548.1:p.Ile478SerfsTer3
NM_001354620.1:c.1862_1863del NP_001341549.1:p.Ile621SerfsTer3
NM_001354621.1:c.1133_1134del NP_001341550.1:p.Ile378SerfsTer3
NM_001354622.1:c.1133_1134del NP_001341551.1:p.Ile378SerfsTer3
NM_001354623.1:c.1133_1134del NP_001341552.1:p.Ile378SerfsTer3
NM_001354624.1:c.1082_1083del NP_001341553.1:p.Ile361SerfsTer3
NM_001354625.1:c.1082_1083del NP_001341554.1:p.Ile361SerfsTer3
NM_001354626.1:c.1082_1083del NP_001341555.1:p.Ile361SerfsTer3
NM_001354627.1:c.1082_1083del NP_001341556.1:p.Ile361SerfsTer3
NM_001354628.1:c.2063_2064del NP_001341557.1:p.Ile688SerfsTer3
NM_001354629.1:c.2057_2058del NP_001341558.1:p.Ile686SerfsTer3
NM_001354630.1:c.1991_1992del NP_001341559.1:p.Ile664SerfsTer3
XM_005265161.2:c.1949_1950del XP_005265218.1:p.Ile650SerfsTer3
XM_017006450.2:c.1133_1134del XP_016861939.1:p.Ile378SerfsTer3
NM_000249.4:c.2156_2157del MANE Select NP_000240.1:p.Ile719SerfsTer3
NM_001167617.3:c.1862_1863del NP_001161089.1:p.Ile621SerfsTer3
NM_001167618.3:c.1433_1434del NP_001161090.1:p.Ile478SerfsTer3
NM_001167619.3:c.1433_1434del NP_001161091.1:p.Ile478SerfsTer3
NM_001258271.2:c.1949_1950del NP_001245200.1:p.Ile650SerfsTer3
NM_001258273.2:c.1433_1434del NP_001245202.1:p.Ile478SerfsTer3
NM_001258274.3:c.1433_1434del NP_001245203.1:p.Ile478SerfsTer3
NM_001354615.2:c.1433_1434del NP_001341544.1:p.Ile478SerfsTer3
NM_001354616.2:c.1433_1434del NP_001341545.1:p.Ile478SerfsTer3
NM_001354617.2:c.1433_1434del NP_001341546.1:p.Ile478SerfsTer3
NM_001354618.2:c.1433_1434del NP_001341547.1:p.Ile478SerfsTer3
NM_001354619.2:c.1433_1434del NP_001341548.1:p.Ile478SerfsTer3
NM_001354620.2:c.1862_1863del NP_001341549.1:p.Ile621SerfsTer3
NM_001354621.2:c.1133_1134del NP_001341550.1:p.Ile378SerfsTer3
NM_001354622.2:c.1133_1134del NP_001341551.1:p.Ile378SerfsTer3
NM_001354623.2:c.1133_1134del NP_001341552.1:p.Ile378SerfsTer3
NM_001354624.2:c.1082_1083del NP_001341553.1:p.Ile361SerfsTer3
NM_001354625.2:c.1082_1083del NP_001341554.1:p.Ile361SerfsTer3
NM_001354626.2:c.1082_1083del NP_001341555.1:p.Ile361SerfsTer3
NM_001354627.2:c.1082_1083del NP_001341556.1:p.Ile361SerfsTer3
NM_001354628.2:c.2063_2064del NP_001341557.1:p.Ile688SerfsTer3
NM_001354629.2:c.2057_2058del NP_001341558.1:p.Ile686SerfsTer3
NM_001354630.2:c.1991_1992del NP_001341559.1:p.Ile664SerfsTer3