Canonical Allele Identifier: CA009467
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90123
ClinVar RCV Id: RCV000075609
dbSNP Id: rs267607728

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37001008del , CM000665.2:g.37001008del GRCh38
NC_000003.11:g.37042499del , CM000665.1:g.37042499del GRCh37
NC_000003.10:g.37017503del NCBI36
NG_007109.2:g.12659del , LRG_216:g.12659del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.261del ENSP00000416476.2:p.Phe88LeufsTer4
ENST00000429117.6:c.-29del ENSP00000407019.2:n.-29del
ENST00000450420.6:c.261del ENSP00000393006.2:p.Phe88LeufsTer4
ENST00000456676.7:c.261del ENSP00000416687.3:p.Phe88LeufsTer4
ENST00000458009.6:c.261del ENSP00000411066.2:p.Phe88LeufsTer4
ENST00000492474.6:c.-463del ENSP00000518393.1:n.-463del
ENST00000616768.6:c.261del ENSP00000480669.3:p.Phe88LeufsTer4
ENST00000673673.2:c.261del ENSP00000500979.2:p.Phe88LeufsTer4
ENST00000231790.8:c.261del MANE Select ENSP00000231790.3:p.Phe88LeufsTer4
ENST00000413212.2:c.-463del ENSP00000400844.2:n.-463del
ENST00000432299.6:c.*341del ENSP00000416783.1:n.*341del
ENST00000441265.6:c.-463del ENSP00000398392.2:n.-463del
ENST00000442249.6:n.276del
ENST00000447829.6:c.-29del ENSP00000399329.2:n.-29del
ENST00000539477.6:c.-371del ENSP00000443665.1:n.-371del
ENST00000673673.1:c.214del
ENST00000673713.1:n.292del
ENST00000673715.1:c.261del ENSP00000501301.1:p.Phe88LeufsTer4
ENST00000673897.1:c.*53del ENSP00000501109.1:n.*53del
ENST00000673899.1:c.261del ENSP00000501030.1:p.Phe88LeufsTer4
ENST00000673947.1:c.*401del ENSP00000501304.1:n.*401del
ENST00000673972.1:c.*139del ENSP00000501281.1:n.*139del
ENST00000673990.1:n.246del
ENST00000674019.1:c.-463del ENSP00000501081.1:n.-463del
ENST00000674107.1:n.203del
ENST00000674111.1:c.261del ENSP00000501162.1:p.Phe88LeufsTer4
ENST00000231790.6:c.261del ENSP00000231790.2:p.Phe88LeufsTer4
ENST00000429117.5:c.-29del ENSP00000407019.1:n.-29del
ENST00000432299.5:c.*341del ENSP00000416783.1:n.*341del
ENST00000435176.5:c.-29del ENSP00000402564.1:n.-29del
ENST00000441265.5:c.-371del ENSP00000398392.1:n.-371del
ENST00000442249.5:c.*53del ENSP00000387511.1:n.*53del
ENST00000454028.5:c.*139del ENSP00000392649.1:n.*139del
ENST00000455445.6:c.-463del ENSP00000398272.2:n.-463del
ENST00000456676.6:c.236del
ENST00000457004.5:c.*86-3393del ENSP00000407773.1:n.*86-3393del
ENST00000458205.6:c.-463del ENSP00000402667.2:n.-463del
ENST00000466900.5:n.188del
ENST00000476172.5:n.383del
ENST00000485889.1:n.265del
ENST00000492474.5:n.284del
ENST00000536378.5:c.-463del ENSP00000444286.2:n.-463del
ENST00000539477.5:c.-371del ENSP00000443665.1:n.-371del
NM_000249.3:c.261del , LRG_216t1:c.261del NP_000240.1:p.Phe88LeufsTer4
NM_001167617.1:c.-29del NP_001161089.1:n.-29del
NM_001167618.1:c.-463del NP_001161090.1:n.-463del
NM_001167619.1:c.-371del NP_001161091.1:n.-371del
NM_001258271.1:c.261del NP_001245200.1:p.Phe88LeufsTer4
NM_001258273.1:c.-463del NP_001245202.1:n.-463del
NM_001258274.1:c.-463del NP_001245203.1:n.-463del
XM_005265161.1:c.261del XP_005265218.1:p.Phe88LeufsTer4
XM_005265163.1:c.-463del XP_005265220.1:n.-463del
XM_005265164.1:c.-463del XP_005265221.1:n.-463del
XM_005265166.1:c.-669del XP_005265223.1:n.-669del
XM_011533727.1:c.-566del XP_011532029.1:n.-566del
NM_001167617.2:c.-29del NP_001161089.1:n.-29del
NM_001167618.2:c.-463del NP_001161090.1:n.-463del
NM_001167619.2:c.-371del NP_001161091.1:n.-371del
NM_001258274.2:c.-463del NP_001245203.1:n.-463del
NM_001354615.1:c.-366del NP_001341544.1:n.-366del
NM_001354616.1:c.-371del NP_001341545.1:n.-371del
NM_001354617.1:c.-463del NP_001341546.1:n.-463del
NM_001354618.1:c.-463del NP_001341547.1:n.-463del
NM_001354619.1:c.-463del NP_001341548.1:n.-463del
NM_001354620.1:c.-29del NP_001341549.1:n.-29del
NM_001354621.1:c.-556del NP_001341550.1:n.-556del
NM_001354622.1:c.-669del NP_001341551.1:n.-669del
NM_001354623.1:c.-669del NP_001341552.1:n.-669del
NM_001354624.1:c.-566del NP_001341553.1:n.-566del
NM_001354625.1:c.-469del NP_001341554.1:n.-469del
NM_001354626.1:c.-566del NP_001341555.1:n.-566del
NM_001354627.1:c.-566del NP_001341556.1:n.-566del
NM_001354628.1:c.261del NP_001341557.1:p.Phe88LeufsTer4
NM_001354629.1:c.208-3393del NP_001341558.1:n.208-3393del
NM_001354630.1:c.261del NP_001341559.1:p.Phe88LeufsTer4
XM_005265161.2:c.261del XP_005265218.1:p.Phe88LeufsTer4
XM_017006450.2:c.-556del XP_016861939.1:n.-556del
NM_000249.4:c.261del MANE Select NP_000240.1:p.Phe88LeufsTer4
NM_001167617.3:c.-29del NP_001161089.1:n.-29del
NM_001167618.3:c.-463del NP_001161090.1:n.-463del
NM_001167619.3:c.-371del NP_001161091.1:n.-371del
NM_001258271.2:c.261del NP_001245200.1:p.Phe88LeufsTer4
NM_001258273.2:c.-463del NP_001245202.1:n.-463del
NM_001258274.3:c.-463del NP_001245203.1:n.-463del
NM_001354615.2:c.-366del NP_001341544.1:n.-366del
NM_001354616.2:c.-371del NP_001341545.1:n.-371del
NM_001354617.2:c.-463del NP_001341546.1:n.-463del
NM_001354618.2:c.-463del NP_001341547.1:n.-463del
NM_001354619.2:c.-463del NP_001341548.1:n.-463del
NM_001354620.2:c.-29del NP_001341549.1:n.-29del
NM_001354621.2:c.-556del NP_001341550.1:n.-556del
NM_001354622.2:c.-669del NP_001341551.1:n.-669del
NM_001354623.2:c.-669del NP_001341552.1:n.-669del
NM_001354624.2:c.-566del NP_001341553.1:n.-566del
NM_001354625.2:c.-469del NP_001341554.1:n.-469del
NM_001354626.2:c.-566del NP_001341555.1:n.-566del
NM_001354627.2:c.-566del NP_001341556.1:n.-566del
NM_001354628.2:c.261del NP_001341557.1:p.Phe88LeufsTer4
NM_001354629.2:c.208-3393del NP_001341558.1:n.208-3393del
NM_001354630.2:c.261del NP_001341559.1:p.Phe88LeufsTer4