Canonical Allele Identifier: CA1357890199
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047604_37047605delinsGA , CM000665.2:g.37047604_37047605delinsGA GRCh38
NC_000003.11:g.37089095_37089096delinsGA , CM000665.1:g.37089095_37089096delinsGA GRCh37
NC_000003.10:g.37064099_37064100delinsGA NCBI36
NG_007109.2:g.59255_59256delinsGA , LRG_216:g.59255_59256delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-2882_1668-2881delinsGA ENSP00000416476.2:n.1668-2882_1668-2881delinsGA
ENST00000429117.6:c.1523_1524delinsGA ENSP00000407019.2:p.Gly508=
ENST00000450420.6:c.1559-2882_1559-2881delinsGA ENSP00000393006.2:n.1559-2882_1559-2881delinsGA
ENST00000456676.7:c.1817_1818delinsGA ENSP00000416687.3:p.Gly606=
ENST00000492474.6:c.1094_1095delinsGA ENSP00000518393.1:p.Gly365=
ENST00000616768.6:c.1817_1818delinsGA ENSP00000480669.3:p.Gly606=
ENST00000673673.2:c.1732-913_1732-912delinsGA ENSP00000500979.2:n.1732-913_1732-912delinsGA
ENST00000231790.8:c.1817_1818delinsGA MANE Select ENSP00000231790.3:p.Gly606=
ENST00000413212.2:c.*735_*736delinsGA ENSP00000400844.2:n.*735_*736delinsGA
ENST00000432299.6:c.*1649_*1650delinsGA ENSP00000416783.1:n.*1649_*1650delinsGA
ENST00000441265.6:c.*46_*47delinsGA ENSP00000398392.2:n.*46_*47delinsGA
ENST00000447829.6:c.*928_*929delinsGA ENSP00000399329.2:n.*928_*929delinsGA
ENST00000539477.6:c.1094_1095delinsGA ENSP00000443665.1:p.Gly365=
ENST00000616768.5:c.854_855delinsGA ENSP00000480669.2:p.Gly285=
ENST00000673673.1:c.1685-913_1685-912delinsGA
ENST00000673715.1:c.1817_1818delinsGA ENSP00000501301.1:p.Gly606=
ENST00000673741.1:n.851_852delinsGA
ENST00000673889.1:n.1199_1200delinsGA
ENST00000673897.1:c.*1609_*1610delinsGA ENSP00000501109.1:n.*1609_*1610delinsGA
ENST00000673899.1:c.1085_1086delinsGA ENSP00000501030.1:p.Gly362=
ENST00000673947.1:c.*1957_*1958delinsGA ENSP00000501304.1:n.*1957_*1958delinsGA
ENST00000673972.1:c.*1695_*1696delinsGA ENSP00000501281.1:n.*1695_*1696delinsGA
ENST00000673990.1:n.1708_1709delinsGA
ENST00000674019.1:c.1094_1095delinsGA ENSP00000501081.1:p.Gly365=
ENST00000674111.1:c.*46_*47delinsGA ENSP00000501162.1:n.*46_*47delinsGA
ENST00000674125.1:n.528_529delinsGA
ENST00000231790.6:c.1817_1818delinsGA ENSP00000231790.2:p.Gly606=
ENST00000413740.1:c.291-2882_291-2881delinsGA ENSP00000416476.1:n.291-2882_291-2881delinsGA
ENST00000435176.5:c.1523_1524delinsGA ENSP00000402564.1:p.Gly508=
ENST00000450420.5:c.182-2882_182-2881delinsGA ENSP00000393006.1:n.182-2882_182-2881delinsGA
ENST00000455445.6:c.1094_1095delinsGA ENSP00000398272.2:p.Gly365=
ENST00000456676.6:c.1792_1793delinsGA
ENST00000458205.6:c.1094_1095delinsGA ENSP00000402667.2:p.Gly365=
ENST00000536378.5:c.1094_1095delinsGA ENSP00000444286.2:p.Gly365=
ENST00000539477.5:c.1094_1095delinsGA ENSP00000443665.1:p.Gly365=
ENST00000616768.4:c.585_586delinsGA
NM_000249.3:c.1817_1818delinsGA , LRG_216t1:c.1817_1818delinsGA NP_000240.1:p.Gly606=
NM_001167617.1:c.1523_1524delinsGA NP_001161089.1:p.Gly508=
NM_001167618.1:c.1094_1095delinsGA NP_001161090.1:p.Gly365=
NM_001167619.1:c.1094_1095delinsGA NP_001161091.1:p.Gly365=
NM_001258271.1:c.1817_1818delinsGA NP_001245200.1:p.Gly606=
NM_001258273.1:c.1094_1095delinsGA NP_001245202.1:p.Gly365=
NM_001258274.1:c.1094_1095delinsGA NP_001245203.1:p.Gly365=
XM_005265161.1:c.1610_1611delinsGA XP_005265218.1:p.Gly537=
XM_005265163.1:c.1094_1095delinsGA XP_005265220.1:p.Gly365=
XM_005265164.1:c.1094_1095delinsGA XP_005265221.1:p.Gly365=
XM_005265166.1:c.794_795delinsGA XP_005265223.1:p.Gly265=
XM_011533727.1:c.743_744delinsGA XP_011532029.1:p.Gly248=
NM_001167617.2:c.1523_1524delinsGA NP_001161089.1:p.Gly508=
NM_001167618.2:c.1094_1095delinsGA NP_001161090.1:p.Gly365=
NM_001167619.2:c.1094_1095delinsGA NP_001161091.1:p.Gly365=
NM_001258274.2:c.1094_1095delinsGA NP_001245203.1:p.Gly365=
NM_001354615.1:c.1094_1095delinsGA NP_001341544.1:p.Gly365=
NM_001354616.1:c.1094_1095delinsGA NP_001341545.1:p.Gly365=
NM_001354617.1:c.1094_1095delinsGA NP_001341546.1:p.Gly365=
NM_001354618.1:c.1094_1095delinsGA NP_001341547.1:p.Gly365=
NM_001354619.1:c.1094_1095delinsGA NP_001341548.1:p.Gly365=
NM_001354620.1:c.1523_1524delinsGA NP_001341549.1:p.Gly508=
NM_001354621.1:c.794_795delinsGA NP_001341550.1:p.Gly265=
NM_001354622.1:c.794_795delinsGA NP_001341551.1:p.Gly265=
NM_001354623.1:c.794_795delinsGA NP_001341552.1:p.Gly265=
NM_001354624.1:c.743_744delinsGA NP_001341553.1:p.Gly248=
NM_001354625.1:c.743_744delinsGA NP_001341554.1:p.Gly248=
NM_001354626.1:c.743_744delinsGA NP_001341555.1:p.Gly248=
NM_001354627.1:c.743_744delinsGA NP_001341556.1:p.Gly248=
NM_001354628.1:c.1817_1818delinsGA NP_001341557.1:p.Gly606=
NM_001354629.1:c.1718_1719delinsGA NP_001341558.1:p.Gly573=
NM_001354630.1:c.1732-913_1732-912delinsGA NP_001341559.1:n.1732-913_1732-912delinsGA
XM_005265161.2:c.1610_1611delinsGA XP_005265218.1:p.Gly537=
XM_017006450.2:c.794_795delinsGA XP_016861939.1:p.Gly265=
NM_000249.4:c.1817_1818delinsGA MANE Select NP_000240.1:p.Gly606=
NM_001167617.3:c.1523_1524delinsGA NP_001161089.1:p.Gly508=
NM_001167618.3:c.1094_1095delinsGA NP_001161090.1:p.Gly365=
NM_001167619.3:c.1094_1095delinsGA NP_001161091.1:p.Gly365=
NM_001258271.2:c.1817_1818delinsGA NP_001245200.1:p.Gly606=
NM_001258273.2:c.1094_1095delinsGA NP_001245202.1:p.Gly365=
NM_001258274.3:c.1094_1095delinsGA NP_001245203.1:p.Gly365=
NM_001354615.2:c.1094_1095delinsGA NP_001341544.1:p.Gly365=
NM_001354616.2:c.1094_1095delinsGA NP_001341545.1:p.Gly365=
NM_001354617.2:c.1094_1095delinsGA NP_001341546.1:p.Gly365=
NM_001354618.2:c.1094_1095delinsGA NP_001341547.1:p.Gly365=
NM_001354619.2:c.1094_1095delinsGA NP_001341548.1:p.Gly365=
NM_001354620.2:c.1523_1524delinsGA NP_001341549.1:p.Gly508=
NM_001354621.2:c.794_795delinsGA NP_001341550.1:p.Gly265=
NM_001354622.2:c.794_795delinsGA NP_001341551.1:p.Gly265=
NM_001354623.2:c.794_795delinsGA NP_001341552.1:p.Gly265=
NM_001354624.2:c.743_744delinsGA NP_001341553.1:p.Gly248=
NM_001354625.2:c.743_744delinsGA NP_001341554.1:p.Gly248=
NM_001354626.2:c.743_744delinsGA NP_001341555.1:p.Gly248=
NM_001354627.2:c.743_744delinsGA NP_001341556.1:p.Gly248=
NM_001354628.2:c.1817_1818delinsGA NP_001341557.1:p.Gly606=
NM_001354629.2:c.1718_1719delinsGA NP_001341558.1:p.Gly573=
NM_001354630.2:c.1732-913_1732-912delinsGA NP_001341559.1:n.1732-913_1732-912delinsGA