Canonical Allele Identifier: CA2580069434
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1754009
ClinVar RCV Id: RCV002364220

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37012073delinsTTA , CM000665.2:g.37012073delinsTTA GRCh38
NC_000003.11:g.37053564delinsTTA , CM000665.1:g.37053564delinsTTA GRCh37
NC_000003.10:g.37028568delinsTTA NCBI36
NG_007109.2:g.23724delinsTTA , LRG_216:g.23724delinsTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.651delinsTTA ENSP00000416476.2:p.Ser218TyrfsTer12
ENST00000429117.6:c.357delinsTTA ENSP00000407019.2:p.Ser120TyrfsTer12
ENST00000450420.6:c.651delinsTTA ENSP00000393006.2:p.Ser218TyrfsTer12
ENST00000456676.7:c.651delinsTTA ENSP00000416687.3:p.Ser218TyrfsTer12
ENST00000458009.6:c.651delinsTTA ENSP00000411066.2:p.Ser218TyrfsTer12
ENST00000492474.6:c.-73delinsTTA ENSP00000518393.1:n.-73delinsTTA
ENST00000616768.6:c.651delinsTTA ENSP00000480669.3:p.Ser218TyrfsTer12
ENST00000673673.2:c.651delinsTTA ENSP00000500979.2:p.Ser218TyrfsTer12
ENST00000231790.8:c.651delinsTTA MANE Select ENSP00000231790.3:p.Ser218TyrfsTer12
ENST00000413212.2:c.-73delinsTTA ENSP00000400844.2:n.-73delinsTTA
ENST00000432299.6:c.*731delinsTTA ENSP00000416783.1:n.*731delinsTTA
ENST00000441265.6:c.-73delinsTTA ENSP00000398392.2:n.-73delinsTTA
ENST00000442249.6:n.666delinsTTA
ENST00000447829.6:c.288delinsTTA ENSP00000399329.2:p.Ser97TyrfsTer12
ENST00000539477.6:c.-73delinsTTA ENSP00000443665.1:n.-73delinsTTA
ENST00000673673.1:c.604delinsTTA
ENST00000673713.1:n.682delinsTTA
ENST00000673715.1:c.651delinsTTA ENSP00000501301.1:p.Ser218TyrfsTer12
ENST00000673897.1:c.*443delinsTTA ENSP00000501109.1:n.*443delinsTTA
ENST00000673899.1:c.651delinsTTA ENSP00000501030.1:p.Ser218TyrfsTer30
ENST00000673947.1:c.*791delinsTTA ENSP00000501304.1:n.*791delinsTTA
ENST00000673972.1:c.*529delinsTTA ENSP00000501281.1:n.*529delinsTTA
ENST00000673990.1:n.636delinsTTA
ENST00000674019.1:c.-73delinsTTA ENSP00000501081.1:n.-73delinsTTA
ENST00000674107.1:n.593delinsTTA
ENST00000674111.1:c.651delinsTTA ENSP00000501162.1:p.Ser218TyrfsTer12
ENST00000231790.6:c.651delinsTTA ENSP00000231790.2:p.Ser218TyrfsTer12
ENST00000432299.5:c.*731delinsTTA ENSP00000416783.1:n.*731delinsTTA
ENST00000435176.5:c.357delinsTTA ENSP00000402564.1:p.Ser120TyrfsTer12
ENST00000441265.5:c.-73delinsTTA ENSP00000398392.1:n.-73delinsTTA
ENST00000447829.5:c.32delinsTTA
ENST00000455445.6:c.-73delinsTTA ENSP00000398272.2:n.-73delinsTTA
ENST00000456676.6:c.626delinsTTA
ENST00000457004.5:c.*430delinsTTA ENSP00000407773.1:n.*430delinsTTA
ENST00000458205.6:c.-73delinsTTA ENSP00000402667.2:n.-73delinsTTA
ENST00000536378.5:c.-73delinsTTA ENSP00000444286.2:n.-73delinsTTA
ENST00000539477.5:c.-73delinsTTA ENSP00000443665.1:n.-73delinsTTA
NM_000249.3:c.651delinsTTA , LRG_216t1:c.651delinsTTA NP_000240.1:p.Ser218TyrfsTer12
NM_001167617.1:c.357delinsTTA NP_001161089.1:p.Ser120TyrfsTer12
NM_001167618.1:c.-73delinsTTA NP_001161090.1:n.-73delinsTTA
NM_001167619.1:c.-73delinsTTA NP_001161091.1:n.-73delinsTTA
NM_001258271.1:c.651delinsTTA NP_001245200.1:p.Ser218TyrfsTer12
NM_001258273.1:c.-73delinsTTA NP_001245202.1:n.-73delinsTTA
NM_001258274.1:c.-73delinsTTA NP_001245203.1:n.-73delinsTTA
XM_005265161.1:c.651delinsTTA XP_005265218.1:p.Ser218TyrfsTer11
XM_005265163.1:c.-73delinsTTA XP_005265220.1:n.-73delinsTTA
XM_005265164.1:c.-73delinsTTA XP_005265221.1:n.-73delinsTTA
XM_005265166.1:c.-279delinsTTA XP_005265223.1:n.-279delinsTTA
XM_011533727.1:c.-176delinsTTA XP_011532029.1:n.-176delinsTTA
NM_001167617.2:c.357delinsTTA NP_001161089.1:p.Ser120TyrfsTer12
NM_001167618.2:c.-73delinsTTA NP_001161090.1:n.-73delinsTTA
NM_001167619.2:c.-73delinsTTA NP_001161091.1:n.-73delinsTTA
NM_001258274.2:c.-73delinsTTA NP_001245203.1:n.-73delinsTTA
NM_001354615.1:c.-73delinsTTA NP_001341544.1:n.-73delinsTTA
NM_001354616.1:c.-73delinsTTA NP_001341545.1:n.-73delinsTTA
NM_001354617.1:c.-73delinsTTA NP_001341546.1:n.-73delinsTTA
NM_001354618.1:c.-73delinsTTA NP_001341547.1:n.-73delinsTTA
NM_001354619.1:c.-73delinsTTA NP_001341548.1:n.-73delinsTTA
NM_001354620.1:c.357delinsTTA NP_001341549.1:p.Ser120TyrfsTer12
NM_001354621.1:c.-166delinsTTA NP_001341550.1:n.-166delinsTTA
NM_001354622.1:c.-279delinsTTA NP_001341551.1:n.-279delinsTTA
NM_001354623.1:c.-279delinsTTA NP_001341552.1:n.-279delinsTTA
NM_001354624.1:c.-176delinsTTA NP_001341553.1:n.-176delinsTTA
NM_001354625.1:c.-176delinsTTA NP_001341554.1:n.-176delinsTTA
NM_001354626.1:c.-176delinsTTA NP_001341555.1:n.-176delinsTTA
NM_001354627.1:c.-176delinsTTA NP_001341556.1:n.-176delinsTTA
NM_001354628.1:c.651delinsTTA NP_001341557.1:p.Ser218TyrfsTer12
NM_001354629.1:c.552delinsTTA NP_001341558.1:p.Ser185TyrfsTer12
NM_001354630.1:c.651delinsTTA NP_001341559.1:p.Ser218TyrfsTer12
XM_005265161.2:c.651delinsTTA XP_005265218.1:p.Ser218TyrfsTer11
XM_017006450.2:c.-166delinsTTA XP_016861939.1:n.-166delinsTTA
NM_000249.4:c.651delinsTTA MANE Select NP_000240.1:p.Ser218TyrfsTer12
NM_001167617.3:c.357delinsTTA NP_001161089.1:p.Ser120TyrfsTer12
NM_001167618.3:c.-73delinsTTA NP_001161090.1:n.-73delinsTTA
NM_001167619.3:c.-73delinsTTA NP_001161091.1:n.-73delinsTTA
NM_001258271.2:c.651delinsTTA NP_001245200.1:p.Ser218TyrfsTer12
NM_001258273.2:c.-73delinsTTA NP_001245202.1:n.-73delinsTTA
NM_001258274.3:c.-73delinsTTA NP_001245203.1:n.-73delinsTTA
NM_001354615.2:c.-73delinsTTA NP_001341544.1:n.-73delinsTTA
NM_001354616.2:c.-73delinsTTA NP_001341545.1:n.-73delinsTTA
NM_001354617.2:c.-73delinsTTA NP_001341546.1:n.-73delinsTTA
NM_001354618.2:c.-73delinsTTA NP_001341547.1:n.-73delinsTTA
NM_001354619.2:c.-73delinsTTA NP_001341548.1:n.-73delinsTTA
NM_001354620.2:c.357delinsTTA NP_001341549.1:p.Ser120TyrfsTer12
NM_001354621.2:c.-166delinsTTA NP_001341550.1:n.-166delinsTTA
NM_001354622.2:c.-279delinsTTA NP_001341551.1:n.-279delinsTTA
NM_001354623.2:c.-279delinsTTA NP_001341552.1:n.-279delinsTTA
NM_001354624.2:c.-176delinsTTA NP_001341553.1:n.-176delinsTTA
NM_001354625.2:c.-176delinsTTA NP_001341554.1:n.-176delinsTTA
NM_001354626.2:c.-176delinsTTA NP_001341555.1:n.-176delinsTTA
NM_001354627.2:c.-176delinsTTA NP_001341556.1:n.-176delinsTTA
NM_001354628.2:c.651delinsTTA NP_001341557.1:p.Ser218TyrfsTer12
NM_001354629.2:c.552delinsTTA NP_001341558.1:p.Ser185TyrfsTer12
NM_001354630.2:c.651delinsTTA NP_001341559.1:p.Ser218TyrfsTer12