Canonical Allele Identifier: CA331040
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90210
ClinVar RCV Id: RCV000075699
dbSNP Id: rs587779013

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993586_36993587dup , CM000665.2:g.36993586_36993587dup GRCh38
NC_000003.11:g.37035077_37035078dup , CM000665.1:g.37035077_37035078dup GRCh37
NC_000003.10:g.37010081_37010082dup NCBI36
NG_007109.2:g.5237_5238dup , LRG_216:g.5237_5238dup
NG_008418.1:g.4720_4721dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.39_40dup ENSP00000416476.2:p.Thr14ArgfsTer4
ENST00000450420.6:c.39_40dup ENSP00000393006.2:p.Thr14ArgfsTer4
ENST00000456676.7:c.39_40dup ENSP00000416687.3:p.Thr14ArgfsTer4
ENST00000458009.6:c.39_40dup ENSP00000411066.2:p.Thr14ArgfsTer4
ENST00000616768.6:c.39_40dup ENSP00000480669.3:p.Thr14ArgfsTer4
ENST00000673673.2:c.39_40dup ENSP00000500979.2:p.Thr14ArgfsTer4
ENST00000231790.8:c.39_40dup MANE Select ENSP00000231790.3:p.Thr14ArgfsTer4
ENST00000432299.6:c.39_40dup ENSP00000416783.1:p.Thr14ArgfsTer4
ENST00000442249.6:n.54_55dup
ENST00000673713.1:n.70_71dup
ENST00000673715.1:c.39_40dup ENSP00000501301.1:p.Thr14ArgfsTer4
ENST00000673897.1:c.39_40dup ENSP00000501109.1:p.Thr14ArgfsTer4
ENST00000673899.1:c.39_40dup ENSP00000501030.1:p.Thr14ArgfsTer4
ENST00000673947.1:c.39_40dup ENSP00000501304.1:p.Thr14ArgfsTer4
ENST00000673972.1:c.39_40dup ENSP00000501281.1:p.Thr14ArgfsTer4
ENST00000674111.1:c.39_40dup ENSP00000501162.1:p.Thr14ArgfsTer4
ENST00000231790.6:c.39_40dup ENSP00000231790.2:p.Thr14ArgfsTer4
ENST00000432299.5:c.39_40dup ENSP00000416783.1:p.Thr14ArgfsTer4
ENST00000442249.5:c.39_40dup ENSP00000387511.1:p.Thr14ArgfsTer4
ENST00000454028.5:c.39_40dup ENSP00000392649.1:p.Thr14ArgfsTer4
ENST00000456676.6:c.14_15dup
ENST00000457004.5:c.39_40dup ENSP00000407773.1:p.Thr14ArgfsTer4
ENST00000536378.5:c.-594_-593dup ENSP00000444286.2:n.-594_-593dup
NM_000249.3:c.39_40dup , LRG_216t1:c.39_40dup NP_000240.1:p.Thr14ArgfsTer4
NM_001258271.1:c.39_40dup NP_001245200.1:p.Thr14ArgfsTer4
NM_001258273.1:c.-594_-593dup NP_001245202.1:n.-594_-593dup
XM_005265161.1:c.39_40dup XP_005265218.1:p.Thr14ArgfsTer4
XM_005265164.1:c.-680_-679dup XP_005265221.1:n.-680_-679dup
NM_001167617.2:c.-478_-477dup NP_001161089.1:n.-478_-477dup
NM_001167618.2:c.-907_-906dup NP_001161090.1:n.-907_-906dup
NM_001167619.2:c.-820_-819dup NP_001161091.1:n.-820_-819dup
NM_001258274.2:c.-1057_-1056dup NP_001245203.1:n.-1057_-1056dup
NM_001354615.1:c.-588_-587dup NP_001341544.1:n.-588_-587dup
NM_001354616.1:c.-588_-587dup NP_001341545.1:n.-588_-587dup
NM_001354617.1:c.-680_-679dup NP_001341546.1:n.-680_-679dup
NM_001354618.1:c.-912_-911dup NP_001341547.1:n.-912_-911dup
NM_001354619.1:c.-1036_-1035dup NP_001341548.1:n.-1036_-1035dup
NM_001354620.1:c.-246_-245dup NP_001341549.1:n.-246_-245dup
NM_001354621.1:c.-1005_-1004dup NP_001341550.1:n.-1005_-1004dup
NM_001354622.1:c.-1118_-1117dup NP_001341551.1:n.-1118_-1117dup
NM_001354623.1:c.-1027_-1026dup NP_001341552.1:n.-1027_-1026dup
NM_001354624.1:c.-788_-787dup NP_001341553.1:n.-788_-787dup
NM_001354625.1:c.-686_-685dup NP_001341554.1:n.-686_-685dup
NM_001354626.1:c.-783_-782dup NP_001341555.1:n.-783_-782dup
NM_001354627.1:c.-1015_-1014dup NP_001341556.1:n.-1015_-1014dup
NM_001354628.1:c.39_40dup NP_001341557.1:p.Thr14ArgfsTer4
NM_001354629.1:c.39_40dup NP_001341558.1:p.Thr14ArgfsTer4
NM_001354630.1:c.39_40dup NP_001341559.1:p.Thr14ArgfsTer4
XM_005265161.2:c.39_40dup XP_005265218.1:p.Thr14ArgfsTer4
XM_017006450.2:c.-773_-772dup XP_016861939.1:n.-773_-772dup
NM_000249.4:c.39_40dup MANE Select NP_000240.1:p.Thr14ArgfsTer4
NM_001167617.3:c.-478_-477dup NP_001161089.1:n.-478_-477dup
NM_001167618.3:c.-907_-906dup NP_001161090.1:n.-907_-906dup
NM_001167619.3:c.-820_-819dup NP_001161091.1:n.-820_-819dup
NM_001258271.2:c.39_40dup NP_001245200.1:p.Thr14ArgfsTer4
NM_001258273.2:c.-594_-593dup NP_001245202.1:n.-594_-593dup
NM_001258274.3:c.-1057_-1056dup NP_001245203.1:n.-1057_-1056dup
NM_001354615.2:c.-588_-587dup NP_001341544.1:n.-588_-587dup
NM_001354616.2:c.-588_-587dup NP_001341545.1:n.-588_-587dup
NM_001354617.2:c.-680_-679dup NP_001341546.1:n.-680_-679dup
NM_001354618.2:c.-912_-911dup NP_001341547.1:n.-912_-911dup
NM_001354619.2:c.-1036_-1035dup NP_001341548.1:n.-1036_-1035dup
NM_001354620.2:c.-246_-245dup NP_001341549.1:n.-246_-245dup
NM_001354621.2:c.-1005_-1004dup NP_001341550.1:n.-1005_-1004dup
NM_001354622.2:c.-1118_-1117dup NP_001341551.1:n.-1118_-1117dup
NM_001354623.2:c.-1027_-1026dup NP_001341552.1:n.-1027_-1026dup
NM_001354624.2:c.-788_-787dup NP_001341553.1:n.-788_-787dup
NM_001354625.2:c.-686_-685dup NP_001341554.1:n.-686_-685dup
NM_001354626.2:c.-783_-782dup NP_001341555.1:n.-783_-782dup
NM_001354627.2:c.-1015_-1014dup NP_001341556.1:n.-1015_-1014dup
NM_001354628.2:c.39_40dup NP_001341557.1:p.Thr14ArgfsTer4
NM_001354629.2:c.39_40dup NP_001341558.1:p.Thr14ArgfsTer4
NM_001354630.2:c.39_40dup NP_001341559.1:p.Thr14ArgfsTer4