Canonical Allele Identifier: CA1357891807
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050600_37050601delinsAT , CM000665.2:g.37050600_37050601delinsAT GRCh38
NC_000003.11:g.37092091_37092092delinsAT , CM000665.1:g.37092091_37092092delinsAT GRCh37
NC_000003.10:g.37067095_37067096delinsAT NCBI36
NG_007109.2:g.62251_62252delinsAT , LRG_216:g.62251_62252delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1782_1783delinsAT ENSP00000416476.2:p.Ile594=
ENST00000429117.6:c.1924_1925delinsAT ENSP00000407019.2:p.Ile642=
ENST00000456676.7:c.2011_2012delinsAT ENSP00000416687.3:p.Ile671=
ENST00000492474.6:c.1495_1496delinsAT ENSP00000518393.1:p.Ile499=
ENST00000616768.6:c.2125_2126delinsAT ENSP00000480669.3:p.Ile709=
ENST00000673673.2:c.2053_2054delinsAT ENSP00000500979.2:p.Ile685=
ENST00000231790.8:c.2218_2219delinsAT MANE Select ENSP00000231790.3:p.Ile740=
ENST00000413212.2:c.*1136_*1137delinsAT ENSP00000400844.2:n.*1136_*1137delinsAT
ENST00000432299.6:c.*2050_*2051delinsAT ENSP00000416783.1:n.*2050_*2051delinsAT
ENST00000447829.6:c.*1329_*1330delinsAT ENSP00000399329.2:n.*1329_*1330delinsAT
ENST00000539477.6:c.1495_1496delinsAT ENSP00000443665.1:p.Ile499=
ENST00000616768.5:c.1162_1163delinsAT ENSP00000480669.2:p.Ile388=
ENST00000673673.1:c.2006_2007delinsAT
ENST00000673741.1:n.1252_1253delinsAT
ENST00000673889.1:n.1600_1601delinsAT
ENST00000673897.1:c.*2010_*2011delinsAT ENSP00000501109.1:n.*2010_*2011delinsAT
ENST00000673899.1:c.1486_1487delinsAT ENSP00000501030.1:p.Ile496=
ENST00000673947.1:c.*2358_*2359delinsAT ENSP00000501304.1:n.*2358_*2359delinsAT
ENST00000673972.1:c.*2096_*2097delinsAT ENSP00000501281.1:n.*2096_*2097delinsAT
ENST00000674019.1:c.1495_1496delinsAT ENSP00000501081.1:p.Ile499=
ENST00000674111.1:c.*447_*448delinsAT ENSP00000501162.1:n.*447_*448delinsAT
ENST00000674125.1:n.929_930delinsAT
ENST00000231790.6:c.2218_2219delinsAT ENSP00000231790.2:p.Ile740=
ENST00000435176.5:c.1924_1925delinsAT ENSP00000402564.1:p.Ile642=
ENST00000455445.6:c.1495_1496delinsAT ENSP00000398272.2:p.Ile499=
ENST00000456676.6:c.1986_1987delinsAT
ENST00000458205.6:c.1495_1496delinsAT ENSP00000402667.2:p.Ile499=
ENST00000536378.5:c.1495_1496delinsAT ENSP00000444286.2:p.Ile499=
ENST00000539477.5:c.1495_1496delinsAT ENSP00000443665.1:p.Ile499=
NM_000249.3:c.2218_2219delinsAT , LRG_216t1:c.2218_2219delinsAT NP_000240.1:p.Ile740=
NM_001167617.1:c.1924_1925delinsAT NP_001161089.1:p.Ile642=
NM_001167618.1:c.1495_1496delinsAT NP_001161090.1:p.Ile499=
NM_001167619.1:c.1495_1496delinsAT NP_001161091.1:p.Ile499=
NM_001258271.1:c.2011_2012delinsAT NP_001245200.1:p.Ile671=
NM_001258273.1:c.1495_1496delinsAT NP_001245202.1:p.Ile499=
NM_001258274.1:c.1495_1496delinsAT NP_001245203.1:p.Ile499=
XM_005265161.1:c.2011_2012delinsAT XP_005265218.1:p.Ile671=
XM_005265163.1:c.1495_1496delinsAT XP_005265220.1:p.Ile499=
XM_005265164.1:c.1495_1496delinsAT XP_005265221.1:p.Ile499=
XM_005265166.1:c.1195_1196delinsAT XP_005265223.1:p.Ile399=
XM_011533727.1:c.1144_1145delinsAT XP_011532029.1:p.Ile382=
NM_001167617.2:c.1924_1925delinsAT NP_001161089.1:p.Ile642=
NM_001167618.2:c.1495_1496delinsAT NP_001161090.1:p.Ile499=
NM_001167619.2:c.1495_1496delinsAT NP_001161091.1:p.Ile499=
NM_001258274.2:c.1495_1496delinsAT NP_001245203.1:p.Ile499=
NM_001354615.1:c.1495_1496delinsAT NP_001341544.1:p.Ile499=
NM_001354616.1:c.1495_1496delinsAT NP_001341545.1:p.Ile499=
NM_001354617.1:c.1495_1496delinsAT NP_001341546.1:p.Ile499=
NM_001354618.1:c.1495_1496delinsAT NP_001341547.1:p.Ile499=
NM_001354619.1:c.1495_1496delinsAT NP_001341548.1:p.Ile499=
NM_001354620.1:c.1924_1925delinsAT NP_001341549.1:p.Ile642=
NM_001354621.1:c.1195_1196delinsAT NP_001341550.1:p.Ile399=
NM_001354622.1:c.1195_1196delinsAT NP_001341551.1:p.Ile399=
NM_001354623.1:c.1195_1196delinsAT NP_001341552.1:p.Ile399=
NM_001354624.1:c.1144_1145delinsAT NP_001341553.1:p.Ile382=
NM_001354625.1:c.1144_1145delinsAT NP_001341554.1:p.Ile382=
NM_001354626.1:c.1144_1145delinsAT NP_001341555.1:p.Ile382=
NM_001354627.1:c.1144_1145delinsAT NP_001341556.1:p.Ile382=
NM_001354628.1:c.2125_2126delinsAT NP_001341557.1:p.Ile709=
NM_001354629.1:c.2119_2120delinsAT NP_001341558.1:p.Ile707=
NM_001354630.1:c.2053_2054delinsAT NP_001341559.1:p.Ile685=
XM_005265161.2:c.2011_2012delinsAT XP_005265218.1:p.Ile671=
XM_017006450.2:c.1195_1196delinsAT XP_016861939.1:p.Ile399=
NM_000249.4:c.2218_2219delinsAT MANE Select NP_000240.1:p.Ile740=
NM_001167617.3:c.1924_1925delinsAT NP_001161089.1:p.Ile642=
NM_001167618.3:c.1495_1496delinsAT NP_001161090.1:p.Ile499=
NM_001167619.3:c.1495_1496delinsAT NP_001161091.1:p.Ile499=
NM_001258271.2:c.2011_2012delinsAT NP_001245200.1:p.Ile671=
NM_001258273.2:c.1495_1496delinsAT NP_001245202.1:p.Ile499=
NM_001258274.3:c.1495_1496delinsAT NP_001245203.1:p.Ile499=
NM_001354615.2:c.1495_1496delinsAT NP_001341544.1:p.Ile499=
NM_001354616.2:c.1495_1496delinsAT NP_001341545.1:p.Ile499=
NM_001354617.2:c.1495_1496delinsAT NP_001341546.1:p.Ile499=
NM_001354618.2:c.1495_1496delinsAT NP_001341547.1:p.Ile499=
NM_001354619.2:c.1495_1496delinsAT NP_001341548.1:p.Ile499=
NM_001354620.2:c.1924_1925delinsAT NP_001341549.1:p.Ile642=
NM_001354621.2:c.1195_1196delinsAT NP_001341550.1:p.Ile399=
NM_001354622.2:c.1195_1196delinsAT NP_001341551.1:p.Ile399=
NM_001354623.2:c.1195_1196delinsAT NP_001341552.1:p.Ile399=
NM_001354624.2:c.1144_1145delinsAT NP_001341553.1:p.Ile382=
NM_001354625.2:c.1144_1145delinsAT NP_001341554.1:p.Ile382=
NM_001354626.2:c.1144_1145delinsAT NP_001341555.1:p.Ile382=
NM_001354627.2:c.1144_1145delinsAT NP_001341556.1:p.Ile382=
NM_001354628.2:c.2125_2126delinsAT NP_001341557.1:p.Ile709=
NM_001354629.2:c.2119_2120delinsAT NP_001341558.1:p.Ile707=
NM_001354630.2:c.2053_2054delinsAT NP_001341559.1:p.Ile685=