Canonical Allele Identifier: CA2586965816
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37007050_37007051insT , CM000665.2:g.37007050_37007051insT GRCh38
NC_000003.11:g.37048541_37048542insT , CM000665.1:g.37048541_37048542insT GRCh37
NC_000003.10:g.37023545_37023546insT NCBI36
NG_007109.2:g.18701_18702insT , LRG_216:g.18701_18702insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.440_441insT ENSP00000416476.2:p.Thr148AspfsTer24
ENST00000429117.6:c.146_147insT ENSP00000407019.2:p.Thr50AspfsTer24
ENST00000450420.6:c.440_441insT ENSP00000393006.2:p.Thr148AspfsTer24
ENST00000456676.7:c.440_441insT ENSP00000416687.3:p.Thr148AspfsTer24
ENST00000458009.6:c.440_441insT ENSP00000411066.2:p.Thr148AspfsTer24
ENST00000492474.6:c.-284_-283insT ENSP00000518393.1:n.-284_-283insT
ENST00000616768.6:c.440_441insT ENSP00000480669.3:p.Thr148AspfsTer24
ENST00000673673.2:c.440_441insT ENSP00000500979.2:p.Thr148AspfsTer24
ENST00000231790.8:c.440_441insT MANE Select ENSP00000231790.3:p.Thr148AspfsTer24
ENST00000413212.2:c.-284_-283insT ENSP00000400844.2:n.-284_-283insT
ENST00000432299.6:c.*520_*521insT ENSP00000416783.1:n.*520_*521insT
ENST00000441265.6:c.-284_-283insT ENSP00000398392.2:n.-284_-283insT
ENST00000442249.6:n.455_456insT
ENST00000447829.6:c.77_78insT ENSP00000399329.2:p.Thr27AspfsTer24
ENST00000539477.6:c.-192_-191insT ENSP00000443665.1:n.-192_-191insT
ENST00000673673.1:c.393_394insT
ENST00000673713.1:n.471_472insT
ENST00000673715.1:c.440_441insT ENSP00000501301.1:p.Thr148AspfsTer24
ENST00000673897.1:c.*232_*233insT ENSP00000501109.1:n.*232_*233insT
ENST00000673899.1:c.440_441insT ENSP00000501030.1:p.Thr148AspfsTer24
ENST00000673947.1:c.*580_*581insT ENSP00000501304.1:n.*580_*581insT
ENST00000673972.1:c.*318_*319insT ENSP00000501281.1:n.*318_*319insT
ENST00000673990.1:n.425_426insT
ENST00000674019.1:c.-284_-283insT ENSP00000501081.1:n.-284_-283insT
ENST00000674107.1:n.382_383insT
ENST00000674111.1:c.440_441insT ENSP00000501162.1:p.Thr148AspfsTer24
ENST00000231790.6:c.440_441insT ENSP00000231790.2:p.Thr148AspfsTer24
ENST00000429117.5:c.146_147insT ENSP00000407019.1:p.Thr50AspfsTer24
ENST00000432299.5:c.*520_*521insT ENSP00000416783.1:n.*520_*521insT
ENST00000435176.5:c.146_147insT ENSP00000402564.1:p.Thr50AspfsTer24
ENST00000441265.5:c.-192_-191insT ENSP00000398392.1:n.-192_-191insT
ENST00000442249.5:c.*232_*233insT ENSP00000387511.1:n.*232_*233insT
ENST00000454028.5:c.*313_*314insT ENSP00000392649.1:n.*313_*314insT
ENST00000455445.6:c.-284_-283insT ENSP00000398272.2:n.-284_-283insT
ENST00000456676.6:c.415_416insT
ENST00000457004.5:c.*219_*220insT ENSP00000407773.1:n.*219_*220insT
ENST00000458205.6:c.-284_-283insT ENSP00000402667.2:n.-284_-283insT
ENST00000466900.5:n.473_474insT
ENST00000485889.1:n.444_445insT
ENST00000492474.5:n.463_464insT
ENST00000536378.5:c.-284_-283insT ENSP00000444286.2:n.-284_-283insT
ENST00000539477.5:c.-192_-191insT ENSP00000443665.1:n.-192_-191insT
NM_000249.3:c.440_441insT , LRG_216t1:c.440_441insT NP_000240.1:p.Thr148AspfsTer24
NM_001167617.1:c.146_147insT NP_001161089.1:p.Thr50AspfsTer24
NM_001167618.1:c.-284_-283insT NP_001161090.1:n.-284_-283insT
NM_001167619.1:c.-192_-191insT NP_001161091.1:n.-192_-191insT
NM_001258271.1:c.440_441insT NP_001245200.1:p.Thr148AspfsTer24
NM_001258273.1:c.-284_-283insT NP_001245202.1:n.-284_-283insT
NM_001258274.1:c.-284_-283insT NP_001245203.1:n.-284_-283insT
XM_005265161.1:c.440_441insT XP_005265218.1:p.Thr148AspfsTer24
XM_005265163.1:c.-284_-283insT XP_005265220.1:n.-284_-283insT
XM_005265164.1:c.-284_-283insT XP_005265221.1:n.-284_-283insT
XM_005265166.1:c.-490_-489insT XP_005265223.1:n.-490_-489insT
XM_011533727.1:c.-387_-386insT XP_011532029.1:n.-387_-386insT
NM_001167617.2:c.146_147insT NP_001161089.1:p.Thr50AspfsTer24
NM_001167618.2:c.-284_-283insT NP_001161090.1:n.-284_-283insT
NM_001167619.2:c.-192_-191insT NP_001161091.1:n.-192_-191insT
NM_001258274.2:c.-284_-283insT NP_001245203.1:n.-284_-283insT
NM_001354615.1:c.-192_-191insT NP_001341544.1:n.-192_-191insT
NM_001354616.1:c.-192_-191insT NP_001341545.1:n.-192_-191insT
NM_001354617.1:c.-284_-283insT NP_001341546.1:n.-284_-283insT
NM_001354618.1:c.-284_-283insT NP_001341547.1:n.-284_-283insT
NM_001354619.1:c.-284_-283insT NP_001341548.1:n.-284_-283insT
NM_001354620.1:c.146_147insT NP_001341549.1:p.Thr50AspfsTer24
NM_001354621.1:c.-377_-376insT NP_001341550.1:n.-377_-376insT
NM_001354622.1:c.-490_-489insT NP_001341551.1:n.-490_-489insT
NM_001354623.1:c.-490_-489insT NP_001341552.1:n.-490_-489insT
NM_001354624.1:c.-387_-386insT NP_001341553.1:n.-387_-386insT
NM_001354625.1:c.-295_-294insT NP_001341554.1:n.-295_-294insT
NM_001354626.1:c.-387_-386insT NP_001341555.1:n.-387_-386insT
NM_001354627.1:c.-387_-386insT NP_001341556.1:n.-387_-386insT
NM_001354628.1:c.440_441insT NP_001341557.1:p.Thr148AspfsTer24
NM_001354629.1:c.341_342insT NP_001341558.1:p.Thr115AspfsTer24
NM_001354630.1:c.440_441insT NP_001341559.1:p.Thr148AspfsTer24
XM_005265161.2:c.440_441insT XP_005265218.1:p.Thr148AspfsTer24
XM_017006450.2:c.-377_-376insT XP_016861939.1:n.-377_-376insT
NM_000249.4:c.440_441insT MANE Select NP_000240.1:p.Thr148AspfsTer24
NM_001167617.3:c.146_147insT NP_001161089.1:p.Thr50AspfsTer24
NM_001167618.3:c.-284_-283insT NP_001161090.1:n.-284_-283insT
NM_001167619.3:c.-192_-191insT NP_001161091.1:n.-192_-191insT
NM_001258271.2:c.440_441insT NP_001245200.1:p.Thr148AspfsTer24
NM_001258273.2:c.-284_-283insT NP_001245202.1:n.-284_-283insT
NM_001258274.3:c.-284_-283insT NP_001245203.1:n.-284_-283insT
NM_001354615.2:c.-192_-191insT NP_001341544.1:n.-192_-191insT
NM_001354616.2:c.-192_-191insT NP_001341545.1:n.-192_-191insT
NM_001354617.2:c.-284_-283insT NP_001341546.1:n.-284_-283insT
NM_001354618.2:c.-284_-283insT NP_001341547.1:n.-284_-283insT
NM_001354619.2:c.-284_-283insT NP_001341548.1:n.-284_-283insT
NM_001354620.2:c.146_147insT NP_001341549.1:p.Thr50AspfsTer24
NM_001354621.2:c.-377_-376insT NP_001341550.1:n.-377_-376insT
NM_001354622.2:c.-490_-489insT NP_001341551.1:n.-490_-489insT
NM_001354623.2:c.-490_-489insT NP_001341552.1:n.-490_-489insT
NM_001354624.2:c.-387_-386insT NP_001341553.1:n.-387_-386insT
NM_001354625.2:c.-295_-294insT NP_001341554.1:n.-295_-294insT
NM_001354626.2:c.-387_-386insT NP_001341555.1:n.-387_-386insT
NM_001354627.2:c.-387_-386insT NP_001341556.1:n.-387_-386insT
NM_001354628.2:c.440_441insT NP_001341557.1:p.Thr148AspfsTer24
NM_001354629.2:c.341_342insT NP_001341558.1:p.Thr115AspfsTer24
NM_001354630.2:c.440_441insT NP_001341559.1:p.Thr148AspfsTer24