Canonical Allele Identifier: CA72795971
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37025669_37025676delinsTGGGGAGA , CM000665.2:g.37025669_37025676delinsTGGGGAGA GRCh38
NC_000003.11:g.37067160_37067167delinsTGGGGAGA , CM000665.1:g.37067160_37067167delinsTGGGGAGA GRCh37
NC_000003.10:g.37042164_37042171delinsTGGGGAGA NCBI36
NG_007109.2:g.37320_37327delinsTGGGGAGA , LRG_216:g.37320_37327delinsTGGGGAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1071_1078delinsTGGGGAGA ENSP00000416476.2:p.Glu358_Val360delinsGl...
ENST00000429117.6:c.777_784delinsTGGGGAGA ENSP00000407019.2:p.Glu260_Val262delinsGl...
ENST00000450420.6:c.1071_1078delinsTGGGGAGA ENSP00000393006.2:p.Glu358_Val360delinsGl...
ENST00000456676.7:c.1071_1078delinsTGGGGAGA ENSP00000416687.3:p.Glu358_Val360delinsGl...
ENST00000458009.6:c.917_924delinsTGGGGAGA ENSP00000411066.2:p.Gly306_Trp308delinsVa...
ENST00000492474.6:c.348_355delinsTGGGGAGA ENSP00000518393.1:p.Glu117_Val119delinsGl...
ENST00000616768.6:c.1071_1078delinsTGGGGAGA ENSP00000480669.3:p.Glu358_Val360delinsGl...
ENST00000673673.2:c.1071_1078delinsTGGGGAGA ENSP00000500979.2:p.Glu358_Val360delinsGl...
ENST00000231790.8:c.1071_1078delinsTGGGGAGA MANE Select ENSP00000231790.3:p.Glu358_Val360delinsGl...
ENST00000413212.2:c.100_107delinsTGGGGAGA ENSP00000400844.2:p.Gly34_Gly36delinsTrpG...
ENST00000432299.6:c.*903_*910delinsTGGGGAGA ENSP00000416783.1:n.*903_*910delinsTGGGGA...
ENST00000441265.6:c.348_355delinsTGGGGAGA ENSP00000398392.2:p.Glu117_Val119delinsGl...
ENST00000442249.6:n.879_886delinsTGGGGAGA
ENST00000447829.6:c.*182_*189delinsTGGGGAGA ENSP00000399329.2:n.*182_*189delinsTGGGGA...
ENST00000539477.6:c.348_355delinsTGGGGAGA ENSP00000443665.1:p.Glu117_Val119delinsGl...
ENST00000616768.5:c.108_115delinsTGGGGAGA ENSP00000480669.2:p.Glu37_Val39delinsGlyG...
ENST00000673673.1:c.1024_1031delinsTGGGGAGA
ENST00000673713.1:n.1195_1202delinsTGGGGAGA
ENST00000673715.1:c.1071_1078delinsTGGGGAGA ENSP00000501301.1:p.Glu358_Val360delinsGl...
ENST00000673889.1:n.453_460delinsTGGGGAGA
ENST00000673897.1:c.*863_*870delinsTGGGGAGA ENSP00000501109.1:n.*863_*870delinsTGGGGA...
ENST00000673899.1:c.678-3115_678-3108delinsTGGGGAGA ENSP00000501030.1:n.678-3115_678-3108deli...
ENST00000673947.1:c.*1211_*1218delinsTGGGGAGA ENSP00000501304.1:n.*1211_*1218delinsTGGG...
ENST00000673972.1:c.*949_*956delinsTGGGGAGA ENSP00000501281.1:n.*949_*956delinsTGGGGA...
ENST00000673990.1:n.962_969delinsTGGGGAGA
ENST00000674019.1:c.348_355delinsTGGGGAGA ENSP00000501081.1:p.Glu117_Val119delinsGl...
ENST00000674107.1:n.919_926delinsTGGGGAGA
ENST00000674111.1:c.1071_1078delinsTGGGGAGA ENSP00000501162.1:p.Glu358_Val360delinsGl...
ENST00000231790.6:c.1071_1078delinsTGGGGAGA ENSP00000231790.2:p.Glu358_Val360delinsGl...
ENST00000413212.1:c.146_153delinsTGGGGAGA
ENST00000435176.5:c.777_784delinsTGGGGAGA ENSP00000402564.1:p.Glu260_Val262delinsGl...
ENST00000447829.5:c.358_365delinsTGGGGAGA
ENST00000455445.6:c.348_355delinsTGGGGAGA ENSP00000398272.2:p.Glu117_Val119delinsGl...
ENST00000456676.6:c.1046_1053delinsTGGGGAGA
ENST00000458009.5:c.258_265delinsTGGGGAGA
ENST00000458205.6:c.348_355delinsTGGGGAGA ENSP00000402667.2:p.Glu117_Val119delinsGl...
ENST00000536378.5:c.348_355delinsTGGGGAGA ENSP00000444286.2:p.Glu117_Val119delinsGl...
ENST00000539477.5:c.348_355delinsTGGGGAGA ENSP00000443665.1:p.Glu117_Val119delinsGl...
NM_000249.3:c.1071_1078delinsTGGGGAGA , LRG_216t1:c.1071_1078delinsTGGGGAGA NP_000240.1:p.Glu358_Val360delinsGlyGluIl...
NM_001167617.1:c.777_784delinsTGGGGAGA NP_001161089.1:p.Glu260_Val262delinsGlyGl...
NM_001167618.1:c.348_355delinsTGGGGAGA NP_001161090.1:p.Glu117_Val119delinsGlyGl...
NM_001167619.1:c.348_355delinsTGGGGAGA NP_001161091.1:p.Glu117_Val119delinsGlyGl...
NM_001258271.1:c.1071_1078delinsTGGGGAGA NP_001245200.1:p.Glu358_Val360delinsGlyGl...
NM_001258273.1:c.348_355delinsTGGGGAGA NP_001245202.1:p.Glu117_Val119delinsGlyGl...
NM_001258274.1:c.348_355delinsTGGGGAGA NP_001245203.1:p.Glu117_Val119delinsGlyGl...
XM_005265161.1:c.864_871delinsTGGGGAGA XP_005265218.1:p.Glu289_Val291delinsGlyGl...
XM_005265163.1:c.348_355delinsTGGGGAGA XP_005265220.1:p.Glu117_Val119delinsGlyGl...
XM_005265164.1:c.348_355delinsTGGGGAGA XP_005265221.1:p.Glu117_Val119delinsGlyGl...
XM_005265166.1:c.48_55delinsTGGGGAGA XP_005265223.1:p.Glu17_Val19delinsGlyGluI...
XM_011533727.1:c.-4_4delinsTGGGGAGA
NM_001167617.2:c.777_784delinsTGGGGAGA NP_001161089.1:p.Glu260_Val262delinsGlyGl...
NM_001167618.2:c.348_355delinsTGGGGAGA NP_001161090.1:p.Glu117_Val119delinsGlyGl...
NM_001167619.2:c.348_355delinsTGGGGAGA NP_001161091.1:p.Glu117_Val119delinsGlyGl...
NM_001258274.2:c.348_355delinsTGGGGAGA NP_001245203.1:p.Glu117_Val119delinsGlyGl...
NM_001354615.1:c.348_355delinsTGGGGAGA NP_001341544.1:p.Glu117_Val119delinsGlyGl...
NM_001354616.1:c.348_355delinsTGGGGAGA NP_001341545.1:p.Glu117_Val119delinsGlyGl...
NM_001354617.1:c.348_355delinsTGGGGAGA NP_001341546.1:p.Glu117_Val119delinsGlyGl...
NM_001354618.1:c.348_355delinsTGGGGAGA NP_001341547.1:p.Glu117_Val119delinsGlyGl...
NM_001354619.1:c.348_355delinsTGGGGAGA NP_001341548.1:p.Glu117_Val119delinsGlyGl...
NM_001354620.1:c.777_784delinsTGGGGAGA NP_001341549.1:p.Glu260_Val262delinsGlyGl...
NM_001354621.1:c.48_55delinsTGGGGAGA NP_001341550.1:p.Glu17_Val19delinsGlyGluI...
NM_001354622.1:c.48_55delinsTGGGGAGA NP_001341551.1:p.Glu17_Val19delinsGlyGluI...
NM_001354623.1:c.48_55delinsTGGGGAGA NP_001341552.1:p.Glu17_Val19delinsGlyGluI...
NM_001354624.1:c.-4_4delinsTGGGGAGA
NM_001354625.1:c.-4_4delinsTGGGGAGA
NM_001354626.1:c.-4_4delinsTGGGGAGA
NM_001354627.1:c.-4_4delinsTGGGGAGA
NM_001354628.1:c.1071_1078delinsTGGGGAGA NP_001341557.1:p.Glu358_Val360delinsGlyGl...
NM_001354629.1:c.972_979delinsTGGGGAGA NP_001341558.1:p.Glu325_Val327delinsGlyGl...
NM_001354630.1:c.1071_1078delinsTGGGGAGA NP_001341559.1:p.Glu358_Val360delinsGlyGl...
XM_005265161.2:c.864_871delinsTGGGGAGA XP_005265218.1:p.Glu289_Val291delinsGlyGl...
XM_017006450.2:c.48_55delinsTGGGGAGA XP_016861939.1:p.Glu17_Val19delinsGlyGluI...
NM_000249.4:c.1071_1078delinsTGGGGAGA MANE Select NP_000240.1:p.Glu358_Val360delinsGlyGluIl...
NM_001167617.3:c.777_784delinsTGGGGAGA NP_001161089.1:p.Glu260_Val262delinsGlyGl...
NM_001167618.3:c.348_355delinsTGGGGAGA NP_001161090.1:p.Glu117_Val119delinsGlyGl...
NM_001167619.3:c.348_355delinsTGGGGAGA NP_001161091.1:p.Glu117_Val119delinsGlyGl...
NM_001258271.2:c.1071_1078delinsTGGGGAGA NP_001245200.1:p.Glu358_Val360delinsGlyGl...
NM_001258273.2:c.348_355delinsTGGGGAGA NP_001245202.1:p.Glu117_Val119delinsGlyGl...
NM_001258274.3:c.348_355delinsTGGGGAGA NP_001245203.1:p.Glu117_Val119delinsGlyGl...
NM_001354615.2:c.348_355delinsTGGGGAGA NP_001341544.1:p.Glu117_Val119delinsGlyGl...
NM_001354616.2:c.348_355delinsTGGGGAGA NP_001341545.1:p.Glu117_Val119delinsGlyGl...
NM_001354617.2:c.348_355delinsTGGGGAGA NP_001341546.1:p.Glu117_Val119delinsGlyGl...
NM_001354618.2:c.348_355delinsTGGGGAGA NP_001341547.1:p.Glu117_Val119delinsGlyGl...
NM_001354619.2:c.348_355delinsTGGGGAGA NP_001341548.1:p.Glu117_Val119delinsGlyGl...
NM_001354620.2:c.777_784delinsTGGGGAGA NP_001341549.1:p.Glu260_Val262delinsGlyGl...
NM_001354621.2:c.48_55delinsTGGGGAGA NP_001341550.1:p.Glu17_Val19delinsGlyGluI...
NM_001354622.2:c.48_55delinsTGGGGAGA NP_001341551.1:p.Glu17_Val19delinsGlyGluI...
NM_001354623.2:c.48_55delinsTGGGGAGA NP_001341552.1:p.Glu17_Val19delinsGlyGluI...
NM_001354624.2:c.-4_4delinsTGGGGAGA
NM_001354625.2:c.-4_4delinsTGGGGAGA
NM_001354626.2:c.-4_4delinsTGGGGAGA
NM_001354627.2:c.-4_4delinsTGGGGAGA
NM_001354628.2:c.1071_1078delinsTGGGGAGA NP_001341557.1:p.Glu358_Val360delinsGlyGl...
NM_001354629.2:c.972_979delinsTGGGGAGA NP_001341558.1:p.Glu325_Val327delinsGlyGl...
NM_001354630.2:c.1071_1078delinsTGGGGAGA NP_001341559.1:p.Glu358_Val360delinsGlyGl...