Canonical Allele Identifier: CA1357891776
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050554_37050555delinsGC , CM000665.2:g.37050554_37050555delinsGC GRCh38
NC_000003.11:g.37092045_37092046delinsGC , CM000665.1:g.37092045_37092046delinsGC GRCh37
NC_000003.10:g.37067049_37067050delinsGC NCBI36
NG_007109.2:g.62205_62206delinsGC , LRG_216:g.62205_62206delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1736_1737delinsGC ENSP00000416476.2:p.Cys579=
ENST00000429117.6:c.1878_1879delinsGC ENSP00000407019.2:p.Leu626=
ENST00000456676.7:c.1965_1966delinsGC ENSP00000416687.3:p.Leu655=
ENST00000492474.6:c.1449_1450delinsGC ENSP00000518393.1:p.Leu483=
ENST00000616768.6:c.2079_2080delinsGC ENSP00000480669.3:p.Leu693=
ENST00000673673.2:c.2007_2008delinsGC ENSP00000500979.2:p.Leu669=
ENST00000231790.8:c.2172_2173delinsGC MANE Select ENSP00000231790.3:p.Leu724=
ENST00000413212.2:c.*1090_*1091delinsGC ENSP00000400844.2:n.*1090_*1091delinsGC
ENST00000432299.6:c.*2004_*2005delinsGC ENSP00000416783.1:n.*2004_*2005delinsGC
ENST00000447829.6:c.*1283_*1284delinsGC ENSP00000399329.2:n.*1283_*1284delinsGC
ENST00000539477.6:c.1449_1450delinsGC ENSP00000443665.1:p.Leu483=
ENST00000616768.5:c.1116_1117delinsGC ENSP00000480669.2:p.Leu372=
ENST00000673673.1:c.1960_1961delinsGC
ENST00000673741.1:n.1206_1207delinsGC
ENST00000673889.1:n.1554_1555delinsGC
ENST00000673897.1:c.*1964_*1965delinsGC ENSP00000501109.1:n.*1964_*1965delinsGC
ENST00000673899.1:c.1440_1441delinsGC ENSP00000501030.1:p.Leu480=
ENST00000673947.1:c.*2312_*2313delinsGC ENSP00000501304.1:n.*2312_*2313delinsGC
ENST00000673972.1:c.*2050_*2051delinsGC ENSP00000501281.1:n.*2050_*2051delinsGC
ENST00000674019.1:c.1449_1450delinsGC ENSP00000501081.1:p.Leu483=
ENST00000674111.1:c.*401_*402delinsGC ENSP00000501162.1:n.*401_*402delinsGC
ENST00000674125.1:n.883_884delinsGC
ENST00000231790.6:c.2172_2173delinsGC ENSP00000231790.2:p.Leu724=
ENST00000435176.5:c.1878_1879delinsGC ENSP00000402564.1:p.Leu626=
ENST00000455445.6:c.1449_1450delinsGC ENSP00000398272.2:p.Leu483=
ENST00000456676.6:c.1940_1941delinsGC
ENST00000458205.6:c.1449_1450delinsGC ENSP00000402667.2:p.Leu483=
ENST00000536378.5:c.1449_1450delinsGC ENSP00000444286.2:p.Leu483=
ENST00000539477.5:c.1449_1450delinsGC ENSP00000443665.1:p.Leu483=
NM_000249.3:c.2172_2173delinsGC , LRG_216t1:c.2172_2173delinsGC NP_000240.1:p.Leu724=
NM_001167617.1:c.1878_1879delinsGC NP_001161089.1:p.Leu626=
NM_001167618.1:c.1449_1450delinsGC NP_001161090.1:p.Leu483=
NM_001167619.1:c.1449_1450delinsGC NP_001161091.1:p.Leu483=
NM_001258271.1:c.1965_1966delinsGC NP_001245200.1:p.Leu655=
NM_001258273.1:c.1449_1450delinsGC NP_001245202.1:p.Leu483=
NM_001258274.1:c.1449_1450delinsGC NP_001245203.1:p.Leu483=
XM_005265161.1:c.1965_1966delinsGC XP_005265218.1:p.Leu655=
XM_005265163.1:c.1449_1450delinsGC XP_005265220.1:p.Leu483=
XM_005265164.1:c.1449_1450delinsGC XP_005265221.1:p.Leu483=
XM_005265166.1:c.1149_1150delinsGC XP_005265223.1:p.Leu383=
XM_011533727.1:c.1098_1099delinsGC XP_011532029.1:p.Leu366=
NM_001167617.2:c.1878_1879delinsGC NP_001161089.1:p.Leu626=
NM_001167618.2:c.1449_1450delinsGC NP_001161090.1:p.Leu483=
NM_001167619.2:c.1449_1450delinsGC NP_001161091.1:p.Leu483=
NM_001258274.2:c.1449_1450delinsGC NP_001245203.1:p.Leu483=
NM_001354615.1:c.1449_1450delinsGC NP_001341544.1:p.Leu483=
NM_001354616.1:c.1449_1450delinsGC NP_001341545.1:p.Leu483=
NM_001354617.1:c.1449_1450delinsGC NP_001341546.1:p.Leu483=
NM_001354618.1:c.1449_1450delinsGC NP_001341547.1:p.Leu483=
NM_001354619.1:c.1449_1450delinsGC NP_001341548.1:p.Leu483=
NM_001354620.1:c.1878_1879delinsGC NP_001341549.1:p.Leu626=
NM_001354621.1:c.1149_1150delinsGC NP_001341550.1:p.Leu383=
NM_001354622.1:c.1149_1150delinsGC NP_001341551.1:p.Leu383=
NM_001354623.1:c.1149_1150delinsGC NP_001341552.1:p.Leu383=
NM_001354624.1:c.1098_1099delinsGC NP_001341553.1:p.Leu366=
NM_001354625.1:c.1098_1099delinsGC NP_001341554.1:p.Leu366=
NM_001354626.1:c.1098_1099delinsGC NP_001341555.1:p.Leu366=
NM_001354627.1:c.1098_1099delinsGC NP_001341556.1:p.Leu366=
NM_001354628.1:c.2079_2080delinsGC NP_001341557.1:p.Leu693=
NM_001354629.1:c.2073_2074delinsGC NP_001341558.1:p.Leu691=
NM_001354630.1:c.2007_2008delinsGC NP_001341559.1:p.Leu669=
XM_005265161.2:c.1965_1966delinsGC XP_005265218.1:p.Leu655=
XM_017006450.2:c.1149_1150delinsGC XP_016861939.1:p.Leu383=
NM_000249.4:c.2172_2173delinsGC MANE Select NP_000240.1:p.Leu724=
NM_001167617.3:c.1878_1879delinsGC NP_001161089.1:p.Leu626=
NM_001167618.3:c.1449_1450delinsGC NP_001161090.1:p.Leu483=
NM_001167619.3:c.1449_1450delinsGC NP_001161091.1:p.Leu483=
NM_001258271.2:c.1965_1966delinsGC NP_001245200.1:p.Leu655=
NM_001258273.2:c.1449_1450delinsGC NP_001245202.1:p.Leu483=
NM_001258274.3:c.1449_1450delinsGC NP_001245203.1:p.Leu483=
NM_001354615.2:c.1449_1450delinsGC NP_001341544.1:p.Leu483=
NM_001354616.2:c.1449_1450delinsGC NP_001341545.1:p.Leu483=
NM_001354617.2:c.1449_1450delinsGC NP_001341546.1:p.Leu483=
NM_001354618.2:c.1449_1450delinsGC NP_001341547.1:p.Leu483=
NM_001354619.2:c.1449_1450delinsGC NP_001341548.1:p.Leu483=
NM_001354620.2:c.1878_1879delinsGC NP_001341549.1:p.Leu626=
NM_001354621.2:c.1149_1150delinsGC NP_001341550.1:p.Leu383=
NM_001354622.2:c.1149_1150delinsGC NP_001341551.1:p.Leu383=
NM_001354623.2:c.1149_1150delinsGC NP_001341552.1:p.Leu383=
NM_001354624.2:c.1098_1099delinsGC NP_001341553.1:p.Leu366=
NM_001354625.2:c.1098_1099delinsGC NP_001341554.1:p.Leu366=
NM_001354626.2:c.1098_1099delinsGC NP_001341555.1:p.Leu366=
NM_001354627.2:c.1098_1099delinsGC NP_001341556.1:p.Leu366=
NM_001354628.2:c.2079_2080delinsGC NP_001341557.1:p.Leu693=
NM_001354629.2:c.2073_2074delinsGC NP_001341558.1:p.Leu691=
NM_001354630.2:c.2007_2008delinsGC NP_001341559.1:p.Leu669=