Canonical Allele Identifier: CA1046893009
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37006815_37006816insAAAAAAAAAAAAAAAAAAA , CM000665.2:g.37006815_37006816insAAAAAAAAAAAAAAAAAAA GRCh38
NC_000003.11:g.37048306_37048307insAAAAAAAAAAAAAAAAAAA , CM000665.1:g.37048306_37048307insAAAAAAAAAAAAAAAAAAA GRCh37
NC_000003.10:g.37023310_37023311insAAAAAAAAAAAAAAAAAAA NCBI36
NG_007109.2:g.18466_18467insAAAAAAAAAAAAAAAAAAA , LRG_216:g.18466_18467insAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000416476.2:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000429117.6:c.87-176_87-175insAAAAAAAAAAAAAAAAAAA ENSP00000407019.2:n.87-176_87-175insAAAAAAAAAAAAAAAAAAA
ENST00000450420.6:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000393006.2:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000456676.7:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000416687.3:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000458009.6:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000411066.2:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000492474.6:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA ENSP00000518393.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
ENST00000616768.6:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000480669.3:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000673673.2:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000500979.2:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000231790.8:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA MANE Select ENSP00000231790.3:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000413212.2:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA ENSP00000400844.2:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
ENST00000432299.6:c.*461-176_*461-175insAAAAAAAAAAAAAAAAAAA ENSP00000416783.1:n.*461-176_*461-175insAAAAAAAAAAAAAAAAAAA
ENST00000441265.6:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA ENSP00000398392.2:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
ENST00000442249.6:n.396-176_396-175insAAAAAAAAAAAAAAAAAAA
ENST00000447829.6:c.18-176_18-175insAAAAAAAAAAAAAAAAAAA ENSP00000399329.2:n.18-176_18-175insAAAAAAAAAAAAAAAAAAA
ENST00000539477.6:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA ENSP00000443665.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
ENST00000673673.1:c.334-176_334-175insAAAAAAAAAAAAAAAAAAA
ENST00000673713.1:n.412-176_412-175insAAAAAAAAAAAAAAAAAAA
ENST00000673715.1:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000501301.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000673897.1:c.*173-176_*173-175insAAAAAAAAAAAAAAAAAAA ENSP00000501109.1:n.*173-176_*173-175insAAAAAAAAAAAAAAAAAAA
ENST00000673899.1:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000501030.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000673947.1:c.*521-176_*521-175insAAAAAAAAAAAAAAAAAAA ENSP00000501304.1:n.*521-176_*521-175insAAAAAAAAAAAAAAAAAAA
ENST00000673972.1:c.*259-176_*259-175insAAAAAAAAAAAAAAAAAAA ENSP00000501281.1:n.*259-176_*259-175insAAAAAAAAAAAAAAAAAAA
ENST00000673990.1:n.366-176_366-175insAAAAAAAAAAAAAAAAAAA
ENST00000674019.1:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA ENSP00000501081.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
ENST00000674107.1:n.323-176_323-175insAAAAAAAAAAAAAAAAAAA
ENST00000674111.1:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000501162.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000231790.6:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA ENSP00000231790.2:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
ENST00000429117.5:c.87-176_87-175insAAAAAAAAAAAAAAAAAAA ENSP00000407019.1:n.87-176_87-175insAAAAAAAAAAAAAAAAAAA
ENST00000432299.5:c.*461-176_*461-175insAAAAAAAAAAAAAAAAAAA ENSP00000416783.1:n.*461-176_*461-175insAAAAAAAAAAAAAAAAAAA
ENST00000435176.5:c.87-176_87-175insAAAAAAAAAAAAAAAAAAA ENSP00000402564.1:n.87-176_87-175insAAAAAAAAAAAAAAAAAAA
ENST00000441265.5:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA ENSP00000398392.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
ENST00000442249.5:c.*173-176_*173-175insAAAAAAAAAAAAAAAAAAA ENSP00000387511.1:n.*173-176_*173-175insAAAAAAAAAAAAAAAAAAA
ENST00000454028.5:c.*254-176_*254-175insAAAAAAAAAAAAAAAAAAA ENSP00000392649.1:n.*254-176_*254-175insAAAAAAAAAAAAAAAAAAA
ENST00000455445.6:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA ENSP00000398272.2:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
ENST00000456676.6:c.356-176_356-175insAAAAAAAAAAAAAAAAAAA
ENST00000457004.5:c.*160-176_*160-175insAAAAAAAAAAAAAAAAAAA ENSP00000407773.1:n.*160-176_*160-175insAAAAAAAAAAAAAAAAAAA
ENST00000458205.6:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA ENSP00000402667.2:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
ENST00000466900.5:n.414-176_414-175insAAAAAAAAAAAAAAAAAAA
ENST00000485889.1:n.385-176_385-175insAAAAAAAAAAAAAAAAAAA
ENST00000492474.5:n.404-176_404-175insAAAAAAAAAAAAAAAAAAA
ENST00000536378.5:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA ENSP00000444286.2:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
ENST00000539477.5:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA ENSP00000443665.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
NM_000249.3:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA , LRG_216t1:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA NP_000240.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
NM_001167617.1:c.87-176_87-175insAAAAAAAAAAAAAAAAAAA NP_001161089.1:n.87-176_87-175insAAAAAAAAAAAAAAAAAAA
NM_001167618.1:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001161090.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001167619.1:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA NP_001161091.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
NM_001258271.1:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA NP_001245200.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
NM_001258273.1:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001245202.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001258274.1:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001245203.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
XM_005265161.1:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA XP_005265218.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
XM_005265163.1:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA XP_005265220.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
XM_005265164.1:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA XP_005265221.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
XM_005265166.1:c.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA XP_005265223.1:n.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA
XM_011533727.1:c.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA XP_011532029.1:n.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA
NM_001167617.2:c.87-176_87-175insAAAAAAAAAAAAAAAAAAA NP_001161089.1:n.87-176_87-175insAAAAAAAAAAAAAAAAAAA
NM_001167618.2:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001161090.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001167619.2:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA NP_001161091.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
NM_001258274.2:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001245203.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001354615.1:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA NP_001341544.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
NM_001354616.1:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA NP_001341545.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
NM_001354617.1:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001341546.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001354618.1:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001341547.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001354619.1:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001341548.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001354620.1:c.87-176_87-175insAAAAAAAAAAAAAAAAAAA NP_001341549.1:n.87-176_87-175insAAAAAAAAAAAAAAAAAAA
NM_001354621.1:c.-436-176_-436-175insAAAAAAAAAAAAAAAAAAA NP_001341550.1:n.-436-176_-436-175insAAAAAAAAAAAAAAAAAAA
NM_001354622.1:c.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA NP_001341551.1:n.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA
NM_001354623.1:c.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA NP_001341552.1:n.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA
NM_001354624.1:c.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA NP_001341553.1:n.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA
NM_001354625.1:c.-354-176_-354-175insAAAAAAAAAAAAAAAAAAA NP_001341554.1:n.-354-176_-354-175insAAAAAAAAAAAAAAAAAAA
NM_001354626.1:c.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA NP_001341555.1:n.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA
NM_001354627.1:c.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA NP_001341556.1:n.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA
NM_001354628.1:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA NP_001341557.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
NM_001354629.1:c.282-176_282-175insAAAAAAAAAAAAAAAAAAA NP_001341558.1:n.282-176_282-175insAAAAAAAAAAAAAAAAAAA
NM_001354630.1:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA NP_001341559.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
XM_005265161.2:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA XP_005265218.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
XM_017006450.2:c.-436-176_-436-175insAAAAAAAAAAAAAAAAAAA XP_016861939.1:n.-436-176_-436-175insAAAAAAAAAAAAAAAAAAA
NM_000249.4:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA MANE Select NP_000240.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
NM_001167617.3:c.87-176_87-175insAAAAAAAAAAAAAAAAAAA NP_001161089.1:n.87-176_87-175insAAAAAAAAAAAAAAAAAAA
NM_001167618.3:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001161090.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001167619.3:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA NP_001161091.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
NM_001258271.2:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA NP_001245200.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
NM_001258273.2:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001245202.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001258274.3:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001245203.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001354615.2:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA NP_001341544.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
NM_001354616.2:c.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA NP_001341545.1:n.-251-176_-251-175insAAAAAAAAAAAAAAAAAAA
NM_001354617.2:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001341546.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001354618.2:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001341547.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001354619.2:c.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA NP_001341548.1:n.-343-176_-343-175insAAAAAAAAAAAAAAAAAAA
NM_001354620.2:c.87-176_87-175insAAAAAAAAAAAAAAAAAAA NP_001341549.1:n.87-176_87-175insAAAAAAAAAAAAAAAAAAA
NM_001354621.2:c.-436-176_-436-175insAAAAAAAAAAAAAAAAAAA NP_001341550.1:n.-436-176_-436-175insAAAAAAAAAAAAAAAAAAA
NM_001354622.2:c.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA NP_001341551.1:n.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA
NM_001354623.2:c.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA NP_001341552.1:n.-549-176_-549-175insAAAAAAAAAAAAAAAAAAA
NM_001354624.2:c.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA NP_001341553.1:n.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA
NM_001354625.2:c.-354-176_-354-175insAAAAAAAAAAAAAAAAAAA NP_001341554.1:n.-354-176_-354-175insAAAAAAAAAAAAAAAAAAA
NM_001354626.2:c.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA NP_001341555.1:n.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA
NM_001354627.2:c.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA NP_001341556.1:n.-446-176_-446-175insAAAAAAAAAAAAAAAAAAA
NM_001354628.2:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA NP_001341557.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA
NM_001354629.2:c.282-176_282-175insAAAAAAAAAAAAAAAAAAA NP_001341558.1:n.282-176_282-175insAAAAAAAAAAAAAAAAAAA
NM_001354630.2:c.381-176_381-175insAAAAAAAAAAAAAAAAAAA NP_001341559.1:n.381-176_381-175insAAAAAAAAAAAAAAAAAAA