Canonical Allele Identifier: CA012687
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90398
dbSNP Id: rs63750034

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37017575del , CM000665.2:g.37017575del GRCh38
NC_000003.11:g.37059066del , CM000665.1:g.37059066del GRCh37
NC_000003.10:g.37034070del NCBI36
NG_007109.2:g.29226del , LRG_216:g.29226del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.860del ENSP00000416476.2:p.Asn287ThrfsTer10
ENST00000429117.6:c.566del ENSP00000407019.2:p.Asn189ThrfsTer10
ENST00000450420.6:c.860del ENSP00000393006.2:p.Asn287ThrfsTer10
ENST00000456676.7:c.860del ENSP00000416687.3:p.Asn287ThrfsTer10
ENST00000458009.6:c.860del ENSP00000411066.2:p.Asn287ThrfsTer23
ENST00000492474.6:c.137del ENSP00000518393.1:p.Asn46ThrfsTer10
ENST00000616768.6:c.860del ENSP00000480669.3:p.Asn287ThrfsTer10
ENST00000673673.2:c.860del ENSP00000500979.2:p.Asn287ThrfsTer10
ENST00000231790.8:c.860del MANE Select ENSP00000231790.3:p.Asn287ThrfsTer10
ENST00000413212.2:c.67+3031del ENSP00000400844.2:n.67+3031del
ENST00000432299.6:c.*870+3031del ENSP00000416783.1:n.*870+3031del
ENST00000441265.6:c.137del ENSP00000398392.2:p.Asn46ThrfsTer10
ENST00000442249.6:n.693-2735del
ENST00000447829.6:c.428-2735del ENSP00000399329.2:n.428-2735del
ENST00000539477.6:c.137del ENSP00000443665.1:p.Asn46ThrfsTer10
ENST00000673673.1:c.813del
ENST00000673713.1:n.891del
ENST00000673715.1:c.860del ENSP00000501301.1:p.Asn287ThrfsTer10
ENST00000673889.1:n.242del
ENST00000673897.1:c.*652del ENSP00000501109.1:n.*652del
ENST00000673899.1:c.677+5476del ENSP00000501030.1:n.677+5476del
ENST00000673947.1:c.*1000del ENSP00000501304.1:n.*1000del
ENST00000673972.1:c.*738del ENSP00000501281.1:n.*738del
ENST00000673990.1:n.776-2735del
ENST00000674019.1:c.137del ENSP00000501081.1:p.Asn46ThrfsTer10
ENST00000674107.1:n.733-2735del
ENST00000674111.1:c.860del ENSP00000501162.1:p.Asn287ThrfsTer10
ENST00000231790.6:c.860del ENSP00000231790.2:p.Asn287ThrfsTer10
ENST00000413212.1:c.113+3031del
ENST00000435176.5:c.566del ENSP00000402564.1:p.Asn189ThrfsTer10
ENST00000441265.5:c.137del ENSP00000398392.1:p.Asn46ThrfsTer10
ENST00000447829.5:c.172-2735del
ENST00000455445.6:c.137del ENSP00000398272.2:p.Asn46ThrfsTer10
ENST00000456676.6:c.835del
ENST00000458009.5:c.201del
ENST00000458205.6:c.137del ENSP00000402667.2:p.Asn46ThrfsTer10
ENST00000536378.5:c.137del ENSP00000444286.2:p.Asn46ThrfsTer10
ENST00000539477.5:c.137del ENSP00000443665.1:p.Asn46ThrfsTer10
NM_000249.3:c.860del , LRG_216t1:c.860del NP_000240.1:p.Asn287ThrfsTer10
NM_001167617.1:c.566del NP_001161089.1:p.Asn189ThrfsTer10
NM_001167618.1:c.137del NP_001161090.1:p.Asn46ThrfsTer10
NM_001167619.1:c.137del NP_001161091.1:p.Asn46ThrfsTer10
NM_001258271.1:c.860del NP_001245200.1:p.Asn287ThrfsTer10
NM_001258273.1:c.137del NP_001245202.1:p.Asn46ThrfsTer10
NM_001258274.1:c.137del NP_001245203.1:p.Asn46ThrfsTer10
XM_005265161.1:c.678-2735del XP_005265218.1:n.678-2735del
XM_005265163.1:c.137del XP_005265220.1:p.Asn46ThrfsTer10
XM_005265164.1:c.137del XP_005265221.1:p.Asn46ThrfsTer10
XM_005265166.1:c.-139-2735del XP_005265223.1:n.-139-2735del
XM_011533727.1:c.-37+3031del XP_011532029.1:n.-37+3031del
NM_001167617.2:c.566del NP_001161089.1:p.Asn189ThrfsTer10
NM_001167618.2:c.137del NP_001161090.1:p.Asn46ThrfsTer10
NM_001167619.2:c.137del NP_001161091.1:p.Asn46ThrfsTer10
NM_001258274.2:c.137del NP_001245203.1:p.Asn46ThrfsTer10
NM_001354615.1:c.137del NP_001341544.1:p.Asn46ThrfsTer10
NM_001354616.1:c.137del NP_001341545.1:p.Asn46ThrfsTer10
NM_001354617.1:c.137del NP_001341546.1:p.Asn46ThrfsTer10
NM_001354618.1:c.137del NP_001341547.1:p.Asn46ThrfsTer10
NM_001354619.1:c.137del NP_001341548.1:p.Asn46ThrfsTer10
NM_001354620.1:c.566del NP_001341549.1:p.Asn189ThrfsTer10
NM_001354621.1:c.-139-2735del NP_001341550.1:n.-139-2735del
NM_001354622.1:c.-139-2735del NP_001341551.1:n.-139-2735del
NM_001354623.1:c.-139-2735del NP_001341552.1:n.-139-2735del
NM_001354624.1:c.-37+3031del NP_001341553.1:n.-37+3031del
NM_001354625.1:c.-37+3031del NP_001341554.1:n.-37+3031del
NM_001354626.1:c.-37+3031del NP_001341555.1:n.-37+3031del
NM_001354627.1:c.-37+3031del NP_001341556.1:n.-37+3031del
NM_001354628.1:c.860del NP_001341557.1:p.Asn287ThrfsTer10
NM_001354629.1:c.761del NP_001341558.1:p.Asn254ThrfsTer10
NM_001354630.1:c.860del NP_001341559.1:p.Asn287ThrfsTer10
XM_005265161.2:c.678-2735del XP_005265218.1:n.678-2735del
XM_017006450.2:c.-139-2735del XP_016861939.1:n.-139-2735del
NM_000249.4:c.860del MANE Select NP_000240.1:p.Asn287ThrfsTer10
NM_001167617.3:c.566del NP_001161089.1:p.Asn189ThrfsTer10
NM_001167618.3:c.137del NP_001161090.1:p.Asn46ThrfsTer10
NM_001167619.3:c.137del NP_001161091.1:p.Asn46ThrfsTer10
NM_001258271.2:c.860del NP_001245200.1:p.Asn287ThrfsTer10
NM_001258273.2:c.137del NP_001245202.1:p.Asn46ThrfsTer10
NM_001258274.3:c.137del NP_001245203.1:p.Asn46ThrfsTer10
NM_001354615.2:c.137del NP_001341544.1:p.Asn46ThrfsTer10
NM_001354616.2:c.137del NP_001341545.1:p.Asn46ThrfsTer10
NM_001354617.2:c.137del NP_001341546.1:p.Asn46ThrfsTer10
NM_001354618.2:c.137del NP_001341547.1:p.Asn46ThrfsTer10
NM_001354619.2:c.137del NP_001341548.1:p.Asn46ThrfsTer10
NM_001354620.2:c.566del NP_001341549.1:p.Asn189ThrfsTer10
NM_001354621.2:c.-139-2735del NP_001341550.1:n.-139-2735del
NM_001354622.2:c.-139-2735del NP_001341551.1:n.-139-2735del
NM_001354623.2:c.-139-2735del NP_001341552.1:n.-139-2735del
NM_001354624.2:c.-37+3031del NP_001341553.1:n.-37+3031del
NM_001354625.2:c.-37+3031del NP_001341554.1:n.-37+3031del
NM_001354626.2:c.-37+3031del NP_001341555.1:n.-37+3031del
NM_001354627.2:c.-37+3031del NP_001341556.1:n.-37+3031del
NM_001354628.2:c.860del NP_001341557.1:p.Asn287ThrfsTer10
NM_001354629.2:c.761del NP_001341558.1:p.Asn254ThrfsTer10
NM_001354630.2:c.860del NP_001341559.1:p.Asn287ThrfsTer10