Canonical Allele Identifier: CA2586971869
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993612_36993614delinsTA , CM000665.2:g.36993612_36993614delinsTA GRCh38
NC_000003.11:g.37035103_37035105delinsTA , CM000665.1:g.37035103_37035105delinsTA GRCh37
NC_000003.10:g.37010107_37010109delinsTA NCBI36
NG_007109.2:g.5263_5265delinsTA , LRG_216:g.5263_5265delinsTA
NG_008418.1:g.4691_4693delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.65_67delinsTA ENSP00000416476.2:p.Gly22ValfsTer14
ENST00000450420.6:c.65_67delinsTA ENSP00000393006.2:p.Gly22ValfsTer14
ENST00000456676.7:c.65_67delinsTA ENSP00000416687.3:p.Gly22ValfsTer14
ENST00000458009.6:c.65_67delinsTA ENSP00000411066.2:p.Gly22ValfsTer14
ENST00000616768.6:c.65_67delinsTA ENSP00000480669.3:p.Gly22ValfsTer14
ENST00000673673.2:c.65_67delinsTA ENSP00000500979.2:p.Gly22ValfsTer14
ENST00000231790.8:c.65_67delinsTA MANE Select ENSP00000231790.3:p.Gly22ValfsTer14
ENST00000432299.6:c.65_67delinsTA ENSP00000416783.1:p.Gly22ValfsTer14
ENST00000442249.6:n.80_82delinsTA
ENST00000673673.1:c.18_20delinsTA
ENST00000673713.1:n.96_98delinsTA
ENST00000673715.1:c.65_67delinsTA ENSP00000501301.1:p.Gly22ValfsTer14
ENST00000673897.1:c.65_67delinsTA ENSP00000501109.1:p.Gly22ValfsTer14
ENST00000673899.1:c.65_67delinsTA ENSP00000501030.1:p.Gly22ValfsTer14
ENST00000673947.1:c.65_67delinsTA ENSP00000501304.1:p.Gly22ValfsTer14
ENST00000673972.1:c.65_67delinsTA ENSP00000501281.1:p.Gly22ValfsTer14
ENST00000674111.1:c.65_67delinsTA ENSP00000501162.1:p.Gly22ValfsTer14
ENST00000231790.6:c.65_67delinsTA ENSP00000231790.2:p.Gly22ValfsTer14
ENST00000432299.5:c.65_67delinsTA ENSP00000416783.1:p.Gly22ValfsTer14
ENST00000442249.5:c.65_67delinsTA ENSP00000387511.1:p.Gly22ValfsTer14
ENST00000454028.5:c.65_67delinsTA ENSP00000392649.1:p.Gly22ValfsTer14
ENST00000456676.6:c.40_42delinsTA
ENST00000457004.5:c.65_67delinsTA ENSP00000407773.1:p.Gly22ValfsTer14
ENST00000536378.5:c.-568_-566delinsTA ENSP00000444286.2:n.-568_-566delinsTA
NM_000249.3:c.65_67delinsTA , LRG_216t1:c.65_67delinsTA NP_000240.1:p.Gly22ValfsTer14
NM_001258271.1:c.65_67delinsTA NP_001245200.1:p.Gly22ValfsTer14
NM_001258273.1:c.-568_-566delinsTA NP_001245202.1:n.-568_-566delinsTA
XM_005265161.1:c.65_67delinsTA XP_005265218.1:p.Gly22ValfsTer14
XM_005265164.1:c.-654_-652delinsTA XP_005265221.1:n.-654_-652delinsTA
NM_001167617.2:c.-452_-450delinsTA NP_001161089.1:n.-452_-450delinsTA
NM_001167618.2:c.-881_-879delinsTA NP_001161090.1:n.-881_-879delinsTA
NM_001167619.2:c.-794_-792delinsTA NP_001161091.1:n.-794_-792delinsTA
NM_001258274.2:c.-1031_-1029delinsTA NP_001245203.1:n.-1031_-1029delinsTA
NM_001354615.1:c.-562_-560delinsTA NP_001341544.1:n.-562_-560delinsTA
NM_001354616.1:c.-562_-560delinsTA NP_001341545.1:n.-562_-560delinsTA
NM_001354617.1:c.-654_-652delinsTA NP_001341546.1:n.-654_-652delinsTA
NM_001354618.1:c.-886_-884delinsTA NP_001341547.1:n.-886_-884delinsTA
NM_001354619.1:c.-1010_-1008delinsTA NP_001341548.1:n.-1010_-1008delinsTA
NM_001354620.1:c.-220_-218delinsTA NP_001341549.1:n.-220_-218delinsTA
NM_001354621.1:c.-979_-977delinsTA NP_001341550.1:n.-979_-977delinsTA
NM_001354622.1:c.-1092_-1090delinsTA NP_001341551.1:n.-1092_-1090delinsTA
NM_001354623.1:c.-1001_-999delinsTA NP_001341552.1:n.-1001_-999delinsTA
NM_001354624.1:c.-762_-760delinsTA NP_001341553.1:n.-762_-760delinsTA
NM_001354625.1:c.-660_-658delinsTA NP_001341554.1:n.-660_-658delinsTA
NM_001354626.1:c.-757_-755delinsTA NP_001341555.1:n.-757_-755delinsTA
NM_001354627.1:c.-989_-987delinsTA NP_001341556.1:n.-989_-987delinsTA
NM_001354628.1:c.65_67delinsTA NP_001341557.1:p.Gly22ValfsTer14
NM_001354629.1:c.65_67delinsTA NP_001341558.1:p.Gly22ValfsTer14
NM_001354630.1:c.65_67delinsTA NP_001341559.1:p.Gly22ValfsTer14
XM_005265161.2:c.65_67delinsTA XP_005265218.1:p.Gly22ValfsTer14
XM_017006450.2:c.-747_-745delinsTA XP_016861939.1:n.-747_-745delinsTA
NM_000249.4:c.65_67delinsTA MANE Select NP_000240.1:p.Gly22ValfsTer14
NM_001167617.3:c.-452_-450delinsTA NP_001161089.1:n.-452_-450delinsTA
NM_001167618.3:c.-881_-879delinsTA NP_001161090.1:n.-881_-879delinsTA
NM_001167619.3:c.-794_-792delinsTA NP_001161091.1:n.-794_-792delinsTA
NM_001258271.2:c.65_67delinsTA NP_001245200.1:p.Gly22ValfsTer14
NM_001258273.2:c.-568_-566delinsTA NP_001245202.1:n.-568_-566delinsTA
NM_001258274.3:c.-1031_-1029delinsTA NP_001245203.1:n.-1031_-1029delinsTA
NM_001354615.2:c.-562_-560delinsTA NP_001341544.1:n.-562_-560delinsTA
NM_001354616.2:c.-562_-560delinsTA NP_001341545.1:n.-562_-560delinsTA
NM_001354617.2:c.-654_-652delinsTA NP_001341546.1:n.-654_-652delinsTA
NM_001354618.2:c.-886_-884delinsTA NP_001341547.1:n.-886_-884delinsTA
NM_001354619.2:c.-1010_-1008delinsTA NP_001341548.1:n.-1010_-1008delinsTA
NM_001354620.2:c.-220_-218delinsTA NP_001341549.1:n.-220_-218delinsTA
NM_001354621.2:c.-979_-977delinsTA NP_001341550.1:n.-979_-977delinsTA
NM_001354622.2:c.-1092_-1090delinsTA NP_001341551.1:n.-1092_-1090delinsTA
NM_001354623.2:c.-1001_-999delinsTA NP_001341552.1:n.-1001_-999delinsTA
NM_001354624.2:c.-762_-760delinsTA NP_001341553.1:n.-762_-760delinsTA
NM_001354625.2:c.-660_-658delinsTA NP_001341554.1:n.-660_-658delinsTA
NM_001354626.2:c.-757_-755delinsTA NP_001341555.1:n.-757_-755delinsTA
NM_001354627.2:c.-989_-987delinsTA NP_001341556.1:n.-989_-987delinsTA
NM_001354628.2:c.65_67delinsTA NP_001341557.1:p.Gly22ValfsTer14
NM_001354629.2:c.65_67delinsTA NP_001341558.1:p.Gly22ValfsTer14
NM_001354630.2:c.65_67delinsTA NP_001341559.1:p.Gly22ValfsTer14