Canonical Allele Identifier: CA2695197783
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674490
ClinVar RCV Id: RCV003452685

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37040224_37040243del , CM000665.2:g.37040224_37040243del GRCh38
NC_000003.11:g.37081715_37081734del , CM000665.1:g.37081715_37081734del GRCh37
NC_000003.10:g.37056719_37056738del NCBI36
NG_007109.2:g.51875_51894del , LRG_216:g.51875_51894del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1597_1616del ENSP00000416476.2:p.Cys533LeufsTer17
ENST00000429117.6:c.1303_1322del ENSP00000407019.2:p.Cys435LeufsTer17
ENST00000450420.6:c.1559-10262_1559-10243del ENSP00000393006.2:n.1559-10262_1559-10243del
ENST00000456676.7:c.1597_1616del ENSP00000416687.3:p.Cys533LeufsTer17
ENST00000492474.6:c.874_893del ENSP00000518393.1:p.Cys292LeufsTer17
ENST00000616768.6:c.1597_1616del ENSP00000480669.3:p.Cys533LeufsTer17
ENST00000673673.2:c.1597_1616del ENSP00000500979.2:p.Cys533LeufsTer17
ENST00000231790.8:c.1597_1616del MANE Select ENSP00000231790.3:p.Cys533LeufsTer17
ENST00000413212.2:c.*515_*534del ENSP00000400844.2:n.*515_*534del
ENST00000432299.6:c.*1429_*1448del ENSP00000416783.1:n.*1429_*1448del
ENST00000441265.6:c.874_893del ENSP00000398392.2:p.Cys292LeufsTer17
ENST00000447829.6:c.*708_*727del ENSP00000399329.2:n.*708_*727del
ENST00000539477.6:c.874_893del ENSP00000443665.1:p.Cys292LeufsTer17
ENST00000616768.5:c.634_653del ENSP00000480669.2:p.Cys212LeufsTer17
ENST00000673673.1:c.1550_1569del
ENST00000673715.1:c.1597_1616del ENSP00000501301.1:p.Cys533LeufsTer17
ENST00000673889.1:n.979_998del
ENST00000673897.1:c.*1389_*1408del ENSP00000501109.1:n.*1389_*1408del
ENST00000673899.1:c.865_884del ENSP00000501030.1:p.Cys289LeufsTer17
ENST00000673947.1:c.*1737_*1756del ENSP00000501304.1:n.*1737_*1756del
ENST00000673972.1:c.*1475_*1494del ENSP00000501281.1:n.*1475_*1494del
ENST00000673990.1:n.1488_1507del
ENST00000674019.1:c.874_893del ENSP00000501081.1:p.Cys292LeufsTer17
ENST00000674111.1:c.1597_1616del ENSP00000501162.1:p.Cys533LeufsTer17
ENST00000674125.1:n.308_327del
ENST00000231790.6:c.1597_1616del ENSP00000231790.2:p.Cys533LeufsTer17
ENST00000413740.1:c.220_239del ENSP00000416476.1:p.Cys74LeufsTer17
ENST00000435176.5:c.1303_1322del ENSP00000402564.1:p.Cys435LeufsTer17
ENST00000450420.5:c.182-10262_182-10243del ENSP00000393006.1:n.182-10262_182-10243del
ENST00000455445.6:c.874_893del ENSP00000398272.2:p.Cys292LeufsTer17
ENST00000456676.6:c.1572_1591del
ENST00000458205.6:c.874_893del ENSP00000402667.2:p.Cys292LeufsTer17
ENST00000536378.5:c.874_893del ENSP00000444286.2:p.Cys292LeufsTer17
ENST00000539477.5:c.874_893del ENSP00000443665.1:p.Cys292LeufsTer17
ENST00000616768.4:c.365_384del
NM_000249.3:c.1597_1616del , LRG_216t1:c.1597_1616del NP_000240.1:p.Cys533LeufsTer17
NM_001167617.1:c.1303_1322del NP_001161089.1:p.Cys435LeufsTer17
NM_001167618.1:c.874_893del NP_001161090.1:p.Cys292LeufsTer17
NM_001167619.1:c.874_893del NP_001161091.1:p.Cys292LeufsTer17
NM_001258271.1:c.1597_1616del NP_001245200.1:p.Cys533LeufsTer17
NM_001258273.1:c.874_893del NP_001245202.1:p.Cys292LeufsTer17
NM_001258274.1:c.874_893del NP_001245203.1:p.Cys292LeufsTer17
XM_005265161.1:c.1390_1409del XP_005265218.1:p.Cys464LeufsTer17
XM_005265163.1:c.874_893del XP_005265220.1:p.Cys292LeufsTer17
XM_005265164.1:c.874_893del XP_005265221.1:p.Cys292LeufsTer17
XM_005265166.1:c.574_593del XP_005265223.1:p.Cys192LeufsTer17
XM_011533727.1:c.523_542del XP_011532029.1:p.Cys175LeufsTer17
NM_001167617.2:c.1303_1322del NP_001161089.1:p.Cys435LeufsTer17
NM_001167618.2:c.874_893del NP_001161090.1:p.Cys292LeufsTer17
NM_001167619.2:c.874_893del NP_001161091.1:p.Cys292LeufsTer17
NM_001258274.2:c.874_893del NP_001245203.1:p.Cys292LeufsTer17
NM_001354615.1:c.874_893del NP_001341544.1:p.Cys292LeufsTer17
NM_001354616.1:c.874_893del NP_001341545.1:p.Cys292LeufsTer17
NM_001354617.1:c.874_893del NP_001341546.1:p.Cys292LeufsTer17
NM_001354618.1:c.874_893del NP_001341547.1:p.Cys292LeufsTer17
NM_001354619.1:c.874_893del NP_001341548.1:p.Cys292LeufsTer17
NM_001354620.1:c.1303_1322del NP_001341549.1:p.Cys435LeufsTer17
NM_001354621.1:c.574_593del NP_001341550.1:p.Cys192LeufsTer17
NM_001354622.1:c.574_593del NP_001341551.1:p.Cys192LeufsTer17
NM_001354623.1:c.574_593del NP_001341552.1:p.Cys192LeufsTer17
NM_001354624.1:c.523_542del NP_001341553.1:p.Cys175LeufsTer17
NM_001354625.1:c.523_542del NP_001341554.1:p.Cys175LeufsTer17
NM_001354626.1:c.523_542del NP_001341555.1:p.Cys175LeufsTer17
NM_001354627.1:c.523_542del NP_001341556.1:p.Cys175LeufsTer17
NM_001354628.1:c.1597_1616del NP_001341557.1:p.Cys533LeufsTer17
NM_001354629.1:c.1498_1517del NP_001341558.1:p.Cys500LeufsTer17
NM_001354630.1:c.1597_1616del NP_001341559.1:p.Cys533LeufsTer17
XM_005265161.2:c.1390_1409del XP_005265218.1:p.Cys464LeufsTer17
XM_017006450.2:c.574_593del XP_016861939.1:p.Cys192LeufsTer17
NM_000249.4:c.1597_1616del MANE Select NP_000240.1:p.Cys533LeufsTer17
NM_001167617.3:c.1303_1322del NP_001161089.1:p.Cys435LeufsTer17
NM_001167618.3:c.874_893del NP_001161090.1:p.Cys292LeufsTer17
NM_001167619.3:c.874_893del NP_001161091.1:p.Cys292LeufsTer17
NM_001258271.2:c.1597_1616del NP_001245200.1:p.Cys533LeufsTer17
NM_001258273.2:c.874_893del NP_001245202.1:p.Cys292LeufsTer17
NM_001258274.3:c.874_893del NP_001245203.1:p.Cys292LeufsTer17
NM_001354615.2:c.874_893del NP_001341544.1:p.Cys292LeufsTer17
NM_001354616.2:c.874_893del NP_001341545.1:p.Cys292LeufsTer17
NM_001354617.2:c.874_893del NP_001341546.1:p.Cys292LeufsTer17
NM_001354618.2:c.874_893del NP_001341547.1:p.Cys292LeufsTer17
NM_001354619.2:c.874_893del NP_001341548.1:p.Cys292LeufsTer17
NM_001354620.2:c.1303_1322del NP_001341549.1:p.Cys435LeufsTer17
NM_001354621.2:c.574_593del NP_001341550.1:p.Cys192LeufsTer17
NM_001354622.2:c.574_593del NP_001341551.1:p.Cys192LeufsTer17
NM_001354623.2:c.574_593del NP_001341552.1:p.Cys192LeufsTer17
NM_001354624.2:c.523_542del NP_001341553.1:p.Cys175LeufsTer17
NM_001354625.2:c.523_542del NP_001341554.1:p.Cys175LeufsTer17
NM_001354626.2:c.523_542del NP_001341555.1:p.Cys175LeufsTer17
NM_001354627.2:c.523_542del NP_001341556.1:p.Cys175LeufsTer17
NM_001354628.2:c.1597_1616del NP_001341557.1:p.Cys533LeufsTer17
NM_001354629.2:c.1498_1517del NP_001341558.1:p.Cys500LeufsTer17
NM_001354630.2:c.1597_1616del NP_001341559.1:p.Cys533LeufsTer17