Canonical Allele Identifier: CA1357890177
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047582_37047601delinsGAGGAAGATGGTCCCAAAGA , CM000665.2:g.37047582_37047601delinsGAGGAAGATGGTCCCAAAGA GRCh38
NC_000003.11:g.37089073_37089092delinsGAGGAAGATGGTCCCAAAGA , CM000665.1:g.37089073_37089092delinsGAGGAAGATGGTCCCAAAGA GRCh37
NC_000003.10:g.37064077_37064096delinsGAGGAAGATGGTCCCAAAGA NCBI36
NG_007109.2:g.59233_59252delinsGAGGAAGATGGTCCCAAAGA , LRG_216:g.59233_59252delinsGAGGAAGATGGTCCCAAAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-2904_1668-2885delinsGAGGAAGATGGTCCCAAAGA ENSP00000416476.2:n.1668-2904_1668-2885delinsGAGGAAGATGGTCCCA...
ENST00000429117.6:c.1501_1520delinsGAGGAAGATGGTCCCAAAGA ENSP00000407019.2:p.Glu501=
ENST00000450420.6:c.1559-2904_1559-2885delinsGAGGAAGATGGTCCCAAAGA ENSP00000393006.2:n.1559-2904_1559-2885delinsGAGGAAGATGGTCCCA...
ENST00000456676.7:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA ENSP00000416687.3:p.Glu599=
ENST00000492474.6:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA ENSP00000518393.1:p.Glu358=
ENST00000616768.6:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA ENSP00000480669.3:p.Glu599=
ENST00000673673.2:c.1732-935_1732-916delinsGAGGAAGATGGTCCCAAAGA ENSP00000500979.2:n.1732-935_1732-916delinsGAGGAAGATGGTCCCAAA...
ENST00000231790.8:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA MANE Select ENSP00000231790.3:p.Glu599=
ENST00000413212.2:c.*713_*732delinsGAGGAAGATGGTCCCAAAGA ENSP00000400844.2:n.*713_*732delinsGAGGAAGATGGTCCCAAAGA
ENST00000432299.6:c.*1627_*1646delinsGAGGAAGATGGTCCCAAAGA ENSP00000416783.1:n.*1627_*1646delinsGAGGAAGATGGTCCCAAAGA
ENST00000441265.6:c.*24_*43delinsGAGGAAGATGGTCCCAAAGA ENSP00000398392.2:n.*24_*43delinsGAGGAAGATGGTCCCAAAGA
ENST00000447829.6:c.*906_*925delinsGAGGAAGATGGTCCCAAAGA ENSP00000399329.2:n.*906_*925delinsGAGGAAGATGGTCCCAAAGA
ENST00000539477.6:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA ENSP00000443665.1:p.Glu358=
ENST00000616768.5:c.832_851delinsGAGGAAGATGGTCCCAAAGA ENSP00000480669.2:p.Glu278=
ENST00000673673.1:c.1685-935_1685-916delinsGAGGAAGATGGTCCCAAAGA
ENST00000673715.1:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA ENSP00000501301.1:p.Glu599=
ENST00000673741.1:n.829_848delinsGAGGAAGATGGTCCCAAAGA
ENST00000673889.1:n.1177_1196delinsGAGGAAGATGGTCCCAAAGA
ENST00000673897.1:c.*1587_*1606delinsGAGGAAGATGGTCCCAAAGA ENSP00000501109.1:n.*1587_*1606delinsGAGGAAGATGGTCCCAAAGA
ENST00000673899.1:c.1063_1082delinsGAGGAAGATGGTCCCAAAGA ENSP00000501030.1:p.Glu355=
ENST00000673947.1:c.*1935_*1954delinsGAGGAAGATGGTCCCAAAGA ENSP00000501304.1:n.*1935_*1954delinsGAGGAAGATGGTCCCAAAGA
ENST00000673972.1:c.*1673_*1692delinsGAGGAAGATGGTCCCAAAGA ENSP00000501281.1:n.*1673_*1692delinsGAGGAAGATGGTCCCAAAGA
ENST00000673990.1:n.1686_1705delinsGAGGAAGATGGTCCCAAAGA
ENST00000674019.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA ENSP00000501081.1:p.Glu358=
ENST00000674111.1:c.*24_*43delinsGAGGAAGATGGTCCCAAAGA ENSP00000501162.1:n.*24_*43delinsGAGGAAGATGGTCCCAAAGA
ENST00000674125.1:n.506_525delinsGAGGAAGATGGTCCCAAAGA
ENST00000231790.6:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA ENSP00000231790.2:p.Glu599=
ENST00000413740.1:c.291-2904_291-2885delinsGAGGAAGATGGTCCCAAAGA ENSP00000416476.1:n.291-2904_291-2885delinsGAGGAAGATGGTCCCAAA...
ENST00000435176.5:c.1501_1520delinsGAGGAAGATGGTCCCAAAGA ENSP00000402564.1:p.Glu501=
ENST00000450420.5:c.182-2904_182-2885delinsGAGGAAGATGGTCCCAAAGA ENSP00000393006.1:n.182-2904_182-2885delinsGAGGAAGATGGTCCCAAA...
ENST00000455445.6:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA ENSP00000398272.2:p.Glu358=
ENST00000456676.6:c.1770_1789delinsGAGGAAGATGGTCCCAAAGA
ENST00000458205.6:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA ENSP00000402667.2:p.Glu358=
ENST00000536378.5:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA ENSP00000444286.2:p.Glu358=
ENST00000539477.5:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA ENSP00000443665.1:p.Glu358=
ENST00000616768.4:c.563_582delinsGAGGAAGATGGTCCCAAAGA
NM_000249.3:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA , LRG_216t1:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA NP_000240.1:p.Glu599=
NM_001167617.1:c.1501_1520delinsGAGGAAGATGGTCCCAAAGA NP_001161089.1:p.Glu501=
NM_001167618.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001161090.1:p.Glu358=
NM_001167619.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001161091.1:p.Glu358=
NM_001258271.1:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA NP_001245200.1:p.Glu599=
NM_001258273.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001245202.1:p.Glu358=
NM_001258274.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001245203.1:p.Glu358=
XM_005265161.1:c.1588_1607delinsGAGGAAGATGGTCCCAAAGA XP_005265218.1:p.Glu530=
XM_005265163.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA XP_005265220.1:p.Glu358=
XM_005265164.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA XP_005265221.1:p.Glu358=
XM_005265166.1:c.772_791delinsGAGGAAGATGGTCCCAAAGA XP_005265223.1:p.Glu258=
XM_011533727.1:c.721_740delinsGAGGAAGATGGTCCCAAAGA XP_011532029.1:p.Glu241=
NM_001167617.2:c.1501_1520delinsGAGGAAGATGGTCCCAAAGA NP_001161089.1:p.Glu501=
NM_001167618.2:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001161090.1:p.Glu358=
NM_001167619.2:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001161091.1:p.Glu358=
NM_001258274.2:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001245203.1:p.Glu358=
NM_001354615.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341544.1:p.Glu358=
NM_001354616.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341545.1:p.Glu358=
NM_001354617.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341546.1:p.Glu358=
NM_001354618.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341547.1:p.Glu358=
NM_001354619.1:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341548.1:p.Glu358=
NM_001354620.1:c.1501_1520delinsGAGGAAGATGGTCCCAAAGA NP_001341549.1:p.Glu501=
NM_001354621.1:c.772_791delinsGAGGAAGATGGTCCCAAAGA NP_001341550.1:p.Glu258=
NM_001354622.1:c.772_791delinsGAGGAAGATGGTCCCAAAGA NP_001341551.1:p.Glu258=
NM_001354623.1:c.772_791delinsGAGGAAGATGGTCCCAAAGA NP_001341552.1:p.Glu258=
NM_001354624.1:c.721_740delinsGAGGAAGATGGTCCCAAAGA NP_001341553.1:p.Glu241=
NM_001354625.1:c.721_740delinsGAGGAAGATGGTCCCAAAGA NP_001341554.1:p.Glu241=
NM_001354626.1:c.721_740delinsGAGGAAGATGGTCCCAAAGA NP_001341555.1:p.Glu241=
NM_001354627.1:c.721_740delinsGAGGAAGATGGTCCCAAAGA NP_001341556.1:p.Glu241=
NM_001354628.1:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA NP_001341557.1:p.Glu599=
NM_001354629.1:c.1696_1715delinsGAGGAAGATGGTCCCAAAGA NP_001341558.1:p.Glu566=
NM_001354630.1:c.1732-935_1732-916delinsGAGGAAGATGGTCCCAAAGA NP_001341559.1:n.1732-935_1732-916delinsGAGGAAGATGGTCCCAAAGA
XM_005265161.2:c.1588_1607delinsGAGGAAGATGGTCCCAAAGA XP_005265218.1:p.Glu530=
XM_017006450.2:c.772_791delinsGAGGAAGATGGTCCCAAAGA XP_016861939.1:p.Glu258=
NM_000249.4:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA MANE Select NP_000240.1:p.Glu599=
NM_001167617.3:c.1501_1520delinsGAGGAAGATGGTCCCAAAGA NP_001161089.1:p.Glu501=
NM_001167618.3:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001161090.1:p.Glu358=
NM_001167619.3:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001161091.1:p.Glu358=
NM_001258271.2:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA NP_001245200.1:p.Glu599=
NM_001258273.2:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001245202.1:p.Glu358=
NM_001258274.3:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001245203.1:p.Glu358=
NM_001354615.2:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341544.1:p.Glu358=
NM_001354616.2:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341545.1:p.Glu358=
NM_001354617.2:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341546.1:p.Glu358=
NM_001354618.2:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341547.1:p.Glu358=
NM_001354619.2:c.1072_1091delinsGAGGAAGATGGTCCCAAAGA NP_001341548.1:p.Glu358=
NM_001354620.2:c.1501_1520delinsGAGGAAGATGGTCCCAAAGA NP_001341549.1:p.Glu501=
NM_001354621.2:c.772_791delinsGAGGAAGATGGTCCCAAAGA NP_001341550.1:p.Glu258=
NM_001354622.2:c.772_791delinsGAGGAAGATGGTCCCAAAGA NP_001341551.1:p.Glu258=
NM_001354623.2:c.772_791delinsGAGGAAGATGGTCCCAAAGA NP_001341552.1:p.Glu258=
NM_001354624.2:c.721_740delinsGAGGAAGATGGTCCCAAAGA NP_001341553.1:p.Glu241=
NM_001354625.2:c.721_740delinsGAGGAAGATGGTCCCAAAGA NP_001341554.1:p.Glu241=
NM_001354626.2:c.721_740delinsGAGGAAGATGGTCCCAAAGA NP_001341555.1:p.Glu241=
NM_001354627.2:c.721_740delinsGAGGAAGATGGTCCCAAAGA NP_001341556.1:p.Glu241=
NM_001354628.2:c.1795_1814delinsGAGGAAGATGGTCCCAAAGA NP_001341557.1:p.Glu599=
NM_001354629.2:c.1696_1715delinsGAGGAAGATGGTCCCAAAGA NP_001341558.1:p.Glu566=
NM_001354630.2:c.1732-935_1732-916delinsGAGGAAGATGGTCCCAAAGA NP_001341559.1:n.1732-935_1732-916delinsGAGGAAGATGGTCCCAAAGA