Canonical Allele Identifier: CA1357880375
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37025815_37025816delinsGT , CM000665.2:g.37025815_37025816delinsGT GRCh38
NC_000003.11:g.37067306_37067307delinsGT , CM000665.1:g.37067306_37067307delinsGT GRCh37
NC_000003.10:g.37042310_37042311delinsGT NCBI36
NG_007109.2:g.37466_37467delinsGT , LRG_216:g.37466_37467delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1217_1218delinsGT ENSP00000416476.2:p.Ser406=
ENST00000429117.6:c.923_924delinsGT ENSP00000407019.2:p.Ser308=
ENST00000450420.6:c.1217_1218delinsGT ENSP00000393006.2:p.Ser406=
ENST00000456676.7:c.1217_1218delinsGT ENSP00000416687.3:p.Ser406=
ENST00000458009.6:c.*118_*119delinsGT ENSP00000411066.2:n.*118_*119delinsGT
ENST00000492474.6:c.494_495delinsGT ENSP00000518393.1:p.Ser165=
ENST00000616768.6:c.1217_1218delinsGT ENSP00000480669.3:p.Ser406=
ENST00000673673.2:c.1217_1218delinsGT ENSP00000500979.2:p.Ser406=
ENST00000231790.8:c.1217_1218delinsGT MANE Select ENSP00000231790.3:p.Ser406=
ENST00000413212.2:c.*135_*136delinsGT ENSP00000400844.2:n.*135_*136delinsGT
ENST00000432299.6:c.*1049_*1050delinsGT ENSP00000416783.1:n.*1049_*1050delinsGT
ENST00000441265.6:c.494_495delinsGT ENSP00000398392.2:p.Ser165=
ENST00000442249.6:n.1025_1026delinsGT
ENST00000447829.6:c.*328_*329delinsGT ENSP00000399329.2:n.*328_*329delinsGT
ENST00000539477.6:c.494_495delinsGT ENSP00000443665.1:p.Ser165=
ENST00000616768.5:c.254_255delinsGT ENSP00000480669.2:p.Ser85=
ENST00000673673.1:c.1170_1171delinsGT
ENST00000673713.1:n.1341_1342delinsGT
ENST00000673715.1:c.1217_1218delinsGT ENSP00000501301.1:p.Ser406=
ENST00000673889.1:n.599_600delinsGT
ENST00000673897.1:c.*1009_*1010delinsGT ENSP00000501109.1:n.*1009_*1010delinsGT
ENST00000673899.1:c.678-2969_678-2968delinsGT ENSP00000501030.1:n.678-2969_678-2968delinsGT
ENST00000673947.1:c.*1357_*1358delinsGT ENSP00000501304.1:n.*1357_*1358delinsGT
ENST00000673972.1:c.*1095_*1096delinsGT ENSP00000501281.1:n.*1095_*1096delinsGT
ENST00000673990.1:n.1108_1109delinsGT
ENST00000674019.1:c.494_495delinsGT ENSP00000501081.1:p.Ser165=
ENST00000674107.1:n.1065_1066delinsGT
ENST00000674111.1:c.1217_1218delinsGT ENSP00000501162.1:p.Ser406=
ENST00000231790.6:c.1217_1218delinsGT ENSP00000231790.2:p.Ser406=
ENST00000413212.1:c.292_293delinsGT
ENST00000435176.5:c.923_924delinsGT ENSP00000402564.1:p.Ser308=
ENST00000447829.5:c.504_505delinsGT
ENST00000455445.6:c.494_495delinsGT ENSP00000398272.2:p.Ser165=
ENST00000456676.6:c.1192_1193delinsGT
ENST00000458009.5:c.404_405delinsGT
ENST00000458205.6:c.494_495delinsGT ENSP00000402667.2:p.Ser165=
ENST00000536378.5:c.494_495delinsGT ENSP00000444286.2:p.Ser165=
ENST00000539477.5:c.494_495delinsGT ENSP00000443665.1:p.Ser165=
NM_000249.3:c.1217_1218delinsGT , LRG_216t1:c.1217_1218delinsGT NP_000240.1:p.Ser406=
NM_001167617.1:c.923_924delinsGT NP_001161089.1:p.Ser308=
NM_001167618.1:c.494_495delinsGT NP_001161090.1:p.Ser165=
NM_001167619.1:c.494_495delinsGT NP_001161091.1:p.Ser165=
NM_001258271.1:c.1217_1218delinsGT NP_001245200.1:p.Ser406=
NM_001258273.1:c.494_495delinsGT NP_001245202.1:p.Ser165=
NM_001258274.1:c.494_495delinsGT NP_001245203.1:p.Ser165=
XM_005265161.1:c.1010_1011delinsGT XP_005265218.1:p.Ser337=
XM_005265163.1:c.494_495delinsGT XP_005265220.1:p.Ser165=
XM_005265164.1:c.494_495delinsGT XP_005265221.1:p.Ser165=
XM_005265166.1:c.194_195delinsGT XP_005265223.1:p.Ser65=
XM_011533727.1:c.143_144delinsGT XP_011532029.1:p.Ser48=
NM_001167617.2:c.923_924delinsGT NP_001161089.1:p.Ser308=
NM_001167618.2:c.494_495delinsGT NP_001161090.1:p.Ser165=
NM_001167619.2:c.494_495delinsGT NP_001161091.1:p.Ser165=
NM_001258274.2:c.494_495delinsGT NP_001245203.1:p.Ser165=
NM_001354615.1:c.494_495delinsGT NP_001341544.1:p.Ser165=
NM_001354616.1:c.494_495delinsGT NP_001341545.1:p.Ser165=
NM_001354617.1:c.494_495delinsGT NP_001341546.1:p.Ser165=
NM_001354618.1:c.494_495delinsGT NP_001341547.1:p.Ser165=
NM_001354619.1:c.494_495delinsGT NP_001341548.1:p.Ser165=
NM_001354620.1:c.923_924delinsGT NP_001341549.1:p.Ser308=
NM_001354621.1:c.194_195delinsGT NP_001341550.1:p.Ser65=
NM_001354622.1:c.194_195delinsGT NP_001341551.1:p.Ser65=
NM_001354623.1:c.194_195delinsGT NP_001341552.1:p.Ser65=
NM_001354624.1:c.143_144delinsGT NP_001341553.1:p.Ser48=
NM_001354625.1:c.143_144delinsGT NP_001341554.1:p.Ser48=
NM_001354626.1:c.143_144delinsGT NP_001341555.1:p.Ser48=
NM_001354627.1:c.143_144delinsGT NP_001341556.1:p.Ser48=
NM_001354628.1:c.1217_1218delinsGT NP_001341557.1:p.Ser406=
NM_001354629.1:c.1118_1119delinsGT NP_001341558.1:p.Ser373=
NM_001354630.1:c.1217_1218delinsGT NP_001341559.1:p.Ser406=
XM_005265161.2:c.1010_1011delinsGT XP_005265218.1:p.Ser337=
XM_017006450.2:c.194_195delinsGT XP_016861939.1:p.Ser65=
NM_000249.4:c.1217_1218delinsGT MANE Select NP_000240.1:p.Ser406=
NM_001167617.3:c.923_924delinsGT NP_001161089.1:p.Ser308=
NM_001167618.3:c.494_495delinsGT NP_001161090.1:p.Ser165=
NM_001167619.3:c.494_495delinsGT NP_001161091.1:p.Ser165=
NM_001258271.2:c.1217_1218delinsGT NP_001245200.1:p.Ser406=
NM_001258273.2:c.494_495delinsGT NP_001245202.1:p.Ser165=
NM_001258274.3:c.494_495delinsGT NP_001245203.1:p.Ser165=
NM_001354615.2:c.494_495delinsGT NP_001341544.1:p.Ser165=
NM_001354616.2:c.494_495delinsGT NP_001341545.1:p.Ser165=
NM_001354617.2:c.494_495delinsGT NP_001341546.1:p.Ser165=
NM_001354618.2:c.494_495delinsGT NP_001341547.1:p.Ser165=
NM_001354619.2:c.494_495delinsGT NP_001341548.1:p.Ser165=
NM_001354620.2:c.923_924delinsGT NP_001341549.1:p.Ser308=
NM_001354621.2:c.194_195delinsGT NP_001341550.1:p.Ser65=
NM_001354622.2:c.194_195delinsGT NP_001341551.1:p.Ser65=
NM_001354623.2:c.194_195delinsGT NP_001341552.1:p.Ser65=
NM_001354624.2:c.143_144delinsGT NP_001341553.1:p.Ser48=
NM_001354625.2:c.143_144delinsGT NP_001341554.1:p.Ser48=
NM_001354626.2:c.143_144delinsGT NP_001341555.1:p.Ser48=
NM_001354627.2:c.143_144delinsGT NP_001341556.1:p.Ser48=
NM_001354628.2:c.1217_1218delinsGT NP_001341557.1:p.Ser406=
NM_001354629.2:c.1118_1119delinsGT NP_001341558.1:p.Ser373=
NM_001354630.2:c.1217_1218delinsGT NP_001341559.1:p.Ser406=