Canonical Allele Identifier: CA1357890266
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047679_37047680delinsAT , CM000665.2:g.37047679_37047680delinsAT GRCh38
NC_000003.11:g.37089170_37089171delinsAT , CM000665.1:g.37089170_37089171delinsAT GRCh37
NC_000003.10:g.37064174_37064175delinsAT NCBI36
NG_007109.2:g.59330_59331delinsAT , LRG_216:g.59330_59331delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-2807_1668-2806delinsAT ENSP00000416476.2:n.1668-2807_1668-2806delinsAT
ENST00000429117.6:c.1598_1599delinsAT ENSP00000407019.2:p.Asp533=
ENST00000450420.6:c.1559-2807_1559-2806delinsAT ENSP00000393006.2:n.1559-2807_1559-2806delinsAT
ENST00000456676.7:c.1892_1893delinsAT ENSP00000416687.3:p.Asp631=
ENST00000492474.6:c.1169_1170delinsAT ENSP00000518393.1:p.Asp390=
ENST00000616768.6:c.1892_1893delinsAT ENSP00000480669.3:p.Asp631=
ENST00000673673.2:c.1732-838_1732-837delinsAT ENSP00000500979.2:n.1732-838_1732-837delinsAT
ENST00000231790.8:c.1892_1893delinsAT MANE Select ENSP00000231790.3:p.Asp631=
ENST00000413212.2:c.*810_*811delinsAT ENSP00000400844.2:n.*810_*811delinsAT
ENST00000432299.6:c.*1724_*1725delinsAT ENSP00000416783.1:n.*1724_*1725delinsAT
ENST00000441265.6:c.*121_*122delinsAT ENSP00000398392.2:n.*121_*122delinsAT
ENST00000447829.6:c.*1003_*1004delinsAT ENSP00000399329.2:n.*1003_*1004delinsAT
ENST00000539477.6:c.1169_1170delinsAT ENSP00000443665.1:p.Asp390=
ENST00000616768.5:c.929_930delinsAT ENSP00000480669.2:p.Asp310=
ENST00000673673.1:c.1685-838_1685-837delinsAT
ENST00000673715.1:c.1892_1893delinsAT ENSP00000501301.1:p.Asp631=
ENST00000673741.1:n.926_927delinsAT
ENST00000673889.1:n.1274_1275delinsAT
ENST00000673897.1:c.*1684_*1685delinsAT ENSP00000501109.1:n.*1684_*1685delinsAT
ENST00000673899.1:c.1160_1161delinsAT ENSP00000501030.1:p.Asp387=
ENST00000673947.1:c.*2032_*2033delinsAT ENSP00000501304.1:n.*2032_*2033delinsAT
ENST00000673972.1:c.*1770_*1771delinsAT ENSP00000501281.1:n.*1770_*1771delinsAT
ENST00000674019.1:c.1169_1170delinsAT ENSP00000501081.1:p.Asp390=
ENST00000674111.1:c.*121_*122delinsAT ENSP00000501162.1:n.*121_*122delinsAT
ENST00000674125.1:n.603_604delinsAT
ENST00000231790.6:c.1892_1893delinsAT ENSP00000231790.2:p.Asp631=
ENST00000413740.1:c.291-2807_291-2806delinsAT ENSP00000416476.1:n.291-2807_291-2806delinsAT
ENST00000435176.5:c.1598_1599delinsAT ENSP00000402564.1:p.Asp533=
ENST00000450420.5:c.182-2807_182-2806delinsAT ENSP00000393006.1:n.182-2807_182-2806delinsAT
ENST00000455445.6:c.1169_1170delinsAT ENSP00000398272.2:p.Asp390=
ENST00000456676.6:c.1867_1868delinsAT
ENST00000458205.6:c.1169_1170delinsAT ENSP00000402667.2:p.Asp390=
ENST00000536378.5:c.1169_1170delinsAT ENSP00000444286.2:p.Asp390=
ENST00000539477.5:c.1169_1170delinsAT ENSP00000443665.1:p.Asp390=
ENST00000616768.4:c.660_661delinsAT
NM_000249.3:c.1892_1893delinsAT , LRG_216t1:c.1892_1893delinsAT NP_000240.1:p.Asp631=
NM_001167617.1:c.1598_1599delinsAT NP_001161089.1:p.Asp533=
NM_001167618.1:c.1169_1170delinsAT NP_001161090.1:p.Asp390=
NM_001167619.1:c.1169_1170delinsAT NP_001161091.1:p.Asp390=
NM_001258271.1:c.1892_1893delinsAT NP_001245200.1:p.Asp631=
NM_001258273.1:c.1169_1170delinsAT NP_001245202.1:p.Asp390=
NM_001258274.1:c.1169_1170delinsAT NP_001245203.1:p.Asp390=
XM_005265161.1:c.1685_1686delinsAT XP_005265218.1:p.Asp562=
XM_005265163.1:c.1169_1170delinsAT XP_005265220.1:p.Asp390=
XM_005265164.1:c.1169_1170delinsAT XP_005265221.1:p.Asp390=
XM_005265166.1:c.869_870delinsAT XP_005265223.1:p.Asp290=
XM_011533727.1:c.818_819delinsAT XP_011532029.1:p.Asp273=
NM_001167617.2:c.1598_1599delinsAT NP_001161089.1:p.Asp533=
NM_001167618.2:c.1169_1170delinsAT NP_001161090.1:p.Asp390=
NM_001167619.2:c.1169_1170delinsAT NP_001161091.1:p.Asp390=
NM_001258274.2:c.1169_1170delinsAT NP_001245203.1:p.Asp390=
NM_001354615.1:c.1169_1170delinsAT NP_001341544.1:p.Asp390=
NM_001354616.1:c.1169_1170delinsAT NP_001341545.1:p.Asp390=
NM_001354617.1:c.1169_1170delinsAT NP_001341546.1:p.Asp390=
NM_001354618.1:c.1169_1170delinsAT NP_001341547.1:p.Asp390=
NM_001354619.1:c.1169_1170delinsAT NP_001341548.1:p.Asp390=
NM_001354620.1:c.1598_1599delinsAT NP_001341549.1:p.Asp533=
NM_001354621.1:c.869_870delinsAT NP_001341550.1:p.Asp290=
NM_001354622.1:c.869_870delinsAT NP_001341551.1:p.Asp290=
NM_001354623.1:c.869_870delinsAT NP_001341552.1:p.Asp290=
NM_001354624.1:c.818_819delinsAT NP_001341553.1:p.Asp273=
NM_001354625.1:c.818_819delinsAT NP_001341554.1:p.Asp273=
NM_001354626.1:c.818_819delinsAT NP_001341555.1:p.Asp273=
NM_001354627.1:c.818_819delinsAT NP_001341556.1:p.Asp273=
NM_001354628.1:c.1892_1893delinsAT NP_001341557.1:p.Asp631=
NM_001354629.1:c.1793_1794delinsAT NP_001341558.1:p.Asp598=
NM_001354630.1:c.1732-838_1732-837delinsAT NP_001341559.1:n.1732-838_1732-837delinsAT
XM_005265161.2:c.1685_1686delinsAT XP_005265218.1:p.Asp562=
XM_017006450.2:c.869_870delinsAT XP_016861939.1:p.Asp290=
NM_000249.4:c.1892_1893delinsAT MANE Select NP_000240.1:p.Asp631=
NM_001167617.3:c.1598_1599delinsAT NP_001161089.1:p.Asp533=
NM_001167618.3:c.1169_1170delinsAT NP_001161090.1:p.Asp390=
NM_001167619.3:c.1169_1170delinsAT NP_001161091.1:p.Asp390=
NM_001258271.2:c.1892_1893delinsAT NP_001245200.1:p.Asp631=
NM_001258273.2:c.1169_1170delinsAT NP_001245202.1:p.Asp390=
NM_001258274.3:c.1169_1170delinsAT NP_001245203.1:p.Asp390=
NM_001354615.2:c.1169_1170delinsAT NP_001341544.1:p.Asp390=
NM_001354616.2:c.1169_1170delinsAT NP_001341545.1:p.Asp390=
NM_001354617.2:c.1169_1170delinsAT NP_001341546.1:p.Asp390=
NM_001354618.2:c.1169_1170delinsAT NP_001341547.1:p.Asp390=
NM_001354619.2:c.1169_1170delinsAT NP_001341548.1:p.Asp390=
NM_001354620.2:c.1598_1599delinsAT NP_001341549.1:p.Asp533=
NM_001354621.2:c.869_870delinsAT NP_001341550.1:p.Asp290=
NM_001354622.2:c.869_870delinsAT NP_001341551.1:p.Asp290=
NM_001354623.2:c.869_870delinsAT NP_001341552.1:p.Asp290=
NM_001354624.2:c.818_819delinsAT NP_001341553.1:p.Asp273=
NM_001354625.2:c.818_819delinsAT NP_001341554.1:p.Asp273=
NM_001354626.2:c.818_819delinsAT NP_001341555.1:p.Asp273=
NM_001354627.2:c.818_819delinsAT NP_001341556.1:p.Asp273=
NM_001354628.2:c.1892_1893delinsAT NP_001341557.1:p.Asp631=
NM_001354629.2:c.1793_1794delinsAT NP_001341558.1:p.Asp598=
NM_001354630.2:c.1732-838_1732-837delinsAT NP_001341559.1:n.1732-838_1732-837delinsAT