Canonical Allele Identifier: CA2695197788
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674437
ClinVar RCV Id: RCV003452632
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993610_36993623delinsCGCATT , CM000665.2:g.36993610_36993623delinsCGCATT GRCh38
NC_000003.11:g.37035101_37035114delinsCGCATT , CM000665.1:g.37035101_37035114delinsCGCATT GRCh37
NC_000003.10:g.37010105_37010118delinsCGCATT NCBI36
NG_007109.2:g.5261_5274delinsCGCATT , LRG_216:g.5261_5274delinsCGCATT
NG_008418.1:g.4682_4695delinsAATGCG

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.63_76delinsCGCATT ENSP00000416476.2:p.Gly22AlafsTer6
ENST00000450420.6:c.63_76delinsCGCATT ENSP00000393006.2:p.Gly22AlafsTer6
ENST00000456676.7:c.63_76delinsCGCATT ENSP00000416687.3:p.Gly22AlafsTer6
ENST00000458009.6:c.63_76delinsCGCATT ENSP00000411066.2:p.Gly22AlafsTer6
ENST00000616768.6:c.63_76delinsCGCATT ENSP00000480669.3:p.Gly22AlafsTer6
ENST00000673673.2:c.63_76delinsCGCATT ENSP00000500979.2:p.Gly22AlafsTer6
ENST00000231790.8:c.63_76delinsCGCATT MANE Select ENSP00000231790.3:p.Gly22AlafsTer6
ENST00000432299.6:c.63_76delinsCGCATT ENSP00000416783.1:p.Gly22AlafsTer6
ENST00000442249.6:n.78_91delinsCGCATT
ENST00000673673.1:c.16_29delinsCGCATT
ENST00000673713.1:n.94_107delinsCGCATT
ENST00000673715.1:c.63_76delinsCGCATT ENSP00000501301.1:p.Gly22AlafsTer6
ENST00000673897.1:c.63_76delinsCGCATT ENSP00000501109.1:p.Gly22AlafsTer6
ENST00000673899.1:c.63_76delinsCGCATT ENSP00000501030.1:p.Gly22AlafsTer6
ENST00000673947.1:c.63_76delinsCGCATT ENSP00000501304.1:p.Gly22AlafsTer6
ENST00000673972.1:c.63_76delinsCGCATT ENSP00000501281.1:p.Gly22AlafsTer6
ENST00000674111.1:c.63_76delinsCGCATT ENSP00000501162.1:p.Gly22AlafsTer6
ENST00000231790.6:c.63_76delinsCGCATT ENSP00000231790.2:p.Gly22AlafsTer6
ENST00000432299.5:c.63_76delinsCGCATT ENSP00000416783.1:p.Gly22AlafsTer6
ENST00000442249.5:c.63_76delinsCGCATT ENSP00000387511.1:p.Gly22AlafsTer6
ENST00000454028.5:c.63_76delinsCGCATT ENSP00000392649.1:p.Gly22AlafsTer6
ENST00000456676.6:c.38_51delinsCGCATT
ENST00000457004.5:c.63_76delinsCGCATT ENSP00000407773.1:p.Gly22AlafsTer6
ENST00000536378.5:c.-570_-557delinsCGCATT ENSP00000444286.2:n.-570_-557delinsCGCATT
NM_000249.3:c.63_76delinsCGCATT , LRG_216t1:c.63_76delinsCGCATT NP_000240.1:p.Gly22AlafsTer6
NM_001258271.1:c.63_76delinsCGCATT NP_001245200.1:p.Gly22AlafsTer6
NM_001258273.1:c.-570_-557delinsCGCATT NP_001245202.1:n.-570_-557delinsCGCATT
XM_005265161.1:c.63_76delinsCGCATT XP_005265218.1:p.Gly22AlafsTer6
XM_005265164.1:c.-656_-643delinsCGCATT XP_005265221.1:n.-656_-643delinsCGCATT
NM_001167617.2:c.-454_-441delinsCGCATT NP_001161089.1:n.-454_-441delinsCGCATT
NM_001167618.2:c.-883_-870delinsCGCATT NP_001161090.1:n.-883_-870delinsCGCATT
NM_001167619.2:c.-796_-783delinsCGCATT NP_001161091.1:n.-796_-783delinsCGCATT
NM_001258274.2:c.-1033_-1020delinsCGCATT NP_001245203.1:n.-1033_-1020delinsCGCATT
NM_001354615.1:c.-564_-551delinsCGCATT NP_001341544.1:n.-564_-551delinsCGCATT
NM_001354616.1:c.-564_-551delinsCGCATT NP_001341545.1:n.-564_-551delinsCGCATT
NM_001354617.1:c.-656_-643delinsCGCATT NP_001341546.1:n.-656_-643delinsCGCATT
NM_001354618.1:c.-888_-875delinsCGCATT NP_001341547.1:n.-888_-875delinsCGCATT
NM_001354619.1:c.-1012_-999delinsCGCATT NP_001341548.1:n.-1012_-999delinsCGCATT
NM_001354620.1:c.-222_-209delinsCGCATT NP_001341549.1:n.-222_-209delinsCGCATT
NM_001354621.1:c.-981_-968delinsCGCATT NP_001341550.1:n.-981_-968delinsCGCATT
NM_001354622.1:c.-1094_-1081delinsCGCATT NP_001341551.1:n.-1094_-1081delinsCGCATT
NM_001354623.1:c.-1003_-990delinsCGCATT NP_001341552.1:n.-1003_-990delinsCGCATT
NM_001354624.1:c.-764_-751delinsCGCATT NP_001341553.1:n.-764_-751delinsCGCATT
NM_001354625.1:c.-662_-649delinsCGCATT NP_001341554.1:n.-662_-649delinsCGCATT
NM_001354626.1:c.-759_-746delinsCGCATT NP_001341555.1:n.-759_-746delinsCGCATT
NM_001354627.1:c.-991_-978delinsCGCATT NP_001341556.1:n.-991_-978delinsCGCATT
NM_001354628.1:c.63_76delinsCGCATT NP_001341557.1:p.Gly22AlafsTer6
NM_001354629.1:c.63_76delinsCGCATT NP_001341558.1:p.Gly22AlafsTer6
NM_001354630.1:c.63_76delinsCGCATT NP_001341559.1:p.Gly22AlafsTer6
XM_005265161.2:c.63_76delinsCGCATT XP_005265218.1:p.Gly22AlafsTer6
XM_017006450.2:c.-749_-736delinsCGCATT XP_016861939.1:n.-749_-736delinsCGCATT
NM_000249.4:c.63_76delinsCGCATT MANE Select NP_000240.1:p.Gly22AlafsTer6
NM_001167617.3:c.-454_-441delinsCGCATT NP_001161089.1:n.-454_-441delinsCGCATT
NM_001167618.3:c.-883_-870delinsCGCATT NP_001161090.1:n.-883_-870delinsCGCATT
NM_001167619.3:c.-796_-783delinsCGCATT NP_001161091.1:n.-796_-783delinsCGCATT
NM_001258271.2:c.63_76delinsCGCATT NP_001245200.1:p.Gly22AlafsTer6
NM_001258273.2:c.-570_-557delinsCGCATT NP_001245202.1:n.-570_-557delinsCGCATT
NM_001258274.3:c.-1033_-1020delinsCGCATT NP_001245203.1:n.-1033_-1020delinsCGCATT
NM_001354615.2:c.-564_-551delinsCGCATT NP_001341544.1:n.-564_-551delinsCGCATT
NM_001354616.2:c.-564_-551delinsCGCATT NP_001341545.1:n.-564_-551delinsCGCATT
NM_001354617.2:c.-656_-643delinsCGCATT NP_001341546.1:n.-656_-643delinsCGCATT
NM_001354618.2:c.-888_-875delinsCGCATT NP_001341547.1:n.-888_-875delinsCGCATT
NM_001354619.2:c.-1012_-999delinsCGCATT NP_001341548.1:n.-1012_-999delinsCGCATT
NM_001354620.2:c.-222_-209delinsCGCATT NP_001341549.1:n.-222_-209delinsCGCATT
NM_001354621.2:c.-981_-968delinsCGCATT NP_001341550.1:n.-981_-968delinsCGCATT
NM_001354622.2:c.-1094_-1081delinsCGCATT NP_001341551.1:n.-1094_-1081delinsCGCATT
NM_001354623.2:c.-1003_-990delinsCGCATT NP_001341552.1:n.-1003_-990delinsCGCATT
NM_001354624.2:c.-764_-751delinsCGCATT NP_001341553.1:n.-764_-751delinsCGCATT
NM_001354625.2:c.-662_-649delinsCGCATT NP_001341554.1:n.-662_-649delinsCGCATT
NM_001354626.2:c.-759_-746delinsCGCATT NP_001341555.1:n.-759_-746delinsCGCATT
NM_001354627.2:c.-991_-978delinsCGCATT NP_001341556.1:n.-991_-978delinsCGCATT
NM_001354628.2:c.63_76delinsCGCATT NP_001341557.1:p.Gly22AlafsTer6
NM_001354629.2:c.63_76delinsCGCATT NP_001341558.1:p.Gly22AlafsTer6
NM_001354630.2:c.63_76delinsCGCATT NP_001341559.1:p.Gly22AlafsTer6
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