Canonical Allele Identifier: CA16617915
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422036
dbSNP Id: rs1064795515

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37025998del , CM000665.2:g.37025998del GRCh38
NC_000003.11:g.37067489del , CM000665.1:g.37067489del GRCh37
NC_000003.10:g.37042493del NCBI36
NG_007109.2:g.37649del , LRG_216:g.37649del

Transcript Alleles

HGVS Amino-acid change
ENST00000231790.8:c.1400del MANE Select ENSP00000231790.3:p.Ser467ThrfsTer24
ENST00000413212.2:c.*318del ENSP00000400844.2:p.=
ENST00000432299.6:c.*1232del ENSP00000416783.1:p.=
ENST00000441265.6:c.677del ENSP00000398392.2:p.Ser226ThrfsTer24
ENST00000442249.6:n.1208del
ENST00000447829.6:c.*511del ENSP00000399329.2:p.=
ENST00000539477.6:c.677del ENSP00000443665.1:p.Ser226ThrfsTer24
ENST00000616768.5:n.437del ENSP00000480669.2:p.Ser146ThrfsTer24
ENST00000673673.1:n.1353del
ENST00000673713.1:n.1524del
ENST00000673715.1:c.1400del ENSP00000501301.1:p.Ser467ThrfsTer24
ENST00000673889.1:n.782del
ENST00000673897.1:c.*1192del ENSP00000501109.1:p.=
ENST00000673899.1:c.678-2786del ENSP00000501030.1:p.=
ENST00000673947.1:c.*1540del ENSP00000501304.1:p.=
ENST00000673972.1:c.*1278del ENSP00000501281.1:p.=
ENST00000673990.1:n.1291del
ENST00000674019.1:c.677del ENSP00000501081.1:p.Ser226ThrfsTer24
ENST00000674107.1:n.1248del
ENST00000674111.1:c.1400del ENSP00000501162.1:p.Ser467ThrfsTer24
ENST00000231790.6:c.1400del ENSP00000231790.2:p.Ser467ThrfsTer24
ENST00000413212.1:n.475del
ENST00000413740.1:n.23del ENSP00000416476.1:p.Ser8ThrfsTer24
ENST00000435176.5:c.1106del ENSP00000402564.1:p.Ser369ThrfsTer24
ENST00000450420.5:n.23del ENSP00000393006.1:p.Ser8ThrfsTer24
ENST00000455445.6:c.677del ENSP00000398272.2:p.Ser226ThrfsTer24
ENST00000456676.6:n.1375del
ENST00000458009.5:n.587del
ENST00000458205.6:c.677del ENSP00000402667.2:p.Ser226ThrfsTer24
ENST00000536378.5:c.677del ENSP00000444286.2:p.Ser226ThrfsTer24
ENST00000539477.5:c.677del ENSP00000443665.1:p.Ser226ThrfsTer24
ENST00000616768.4:n.168del
NM_000249.3:c.1400del , LRG_216t1:c.1400del NP_000240.1:p.Ser467ThrfsTer24
NM_001167617.1:c.1106del NP_001161089.1:p.Ser369ThrfsTer24
NM_001167618.1:c.677del NP_001161090.1:p.Ser226ThrfsTer24
NM_001167619.1:c.677del NP_001161091.1:p.Ser226ThrfsTer24
NM_001258271.1:c.1400del NP_001245200.1:p.Ser467ThrfsTer24
NM_001258273.1:c.677del NP_001245202.1:p.Ser226ThrfsTer24
NM_001258274.1:c.677del NP_001245203.1:p.Ser226ThrfsTer24
XM_005265161.1:c.1193del XP_005265218.1:p.Ser398ThrfsTer24
XM_005265163.1:c.677del XP_005265220.1:p.Ser226ThrfsTer24
XM_005265164.1:c.677del XP_005265221.1:p.Ser226ThrfsTer24
XM_005265166.1:c.377del XP_005265223.1:p.Ser126ThrfsTer24
XM_011533727.1:c.326del XP_011532029.1:p.Ser109ThrfsTer24
NM_001167617.2:c.1106del NP_001161089.1:p.Ser369ThrfsTer24
NM_001167618.2:c.677del NP_001161090.1:p.Ser226ThrfsTer24
NM_001167619.2:c.677del NP_001161091.1:p.Ser226ThrfsTer24
NM_001258274.2:c.677del NP_001245203.1:p.Ser226ThrfsTer24
NM_001354615.1:c.677del NP_001341544.1:p.Ser226ThrfsTer24
NM_001354616.1:c.677del NP_001341545.1:p.Ser226ThrfsTer24
NM_001354617.1:c.677del NP_001341546.1:p.Ser226ThrfsTer24
NM_001354618.1:c.677del NP_001341547.1:p.Ser226ThrfsTer24
NM_001354619.1:c.677del NP_001341548.1:p.Ser226ThrfsTer24
NM_001354620.1:c.1106del NP_001341549.1:p.Ser369ThrfsTer24
NM_001354621.1:c.377del NP_001341550.1:p.Ser126ThrfsTer24
NM_001354622.1:c.377del NP_001341551.1:p.Ser126ThrfsTer24
NM_001354623.1:c.377del NP_001341552.1:p.Ser126ThrfsTer24
NM_001354624.1:c.326del NP_001341553.1:p.Ser109ThrfsTer24
NM_001354625.1:c.326del NP_001341554.1:p.Ser109ThrfsTer24
NM_001354626.1:c.326del NP_001341555.1:p.Ser109ThrfsTer24
NM_001354627.1:c.326del NP_001341556.1:p.Ser109ThrfsTer24
NM_001354628.1:c.1400del NP_001341557.1:p.Ser467ThrfsTer24
NM_001354629.1:c.1301del NP_001341558.1:p.Ser434ThrfsTer24
NM_001354630.1:c.1400del NP_001341559.1:p.Ser467ThrfsTer24
XM_005265161.2:c.1193del XP_005265218.1:p.Ser398ThrfsTer24
XM_017006450.2:c.377del XP_016861939.1:p.Ser126ThrfsTer24
NM_000249.4:c.1400del MANE Select NP_000240.1:p.Ser467ThrfsTer24
NM_001167617.3:c.1106del NP_001161089.1:p.Ser369ThrfsTer24
NM_001167618.3:c.677del NP_001161090.1:p.Ser226ThrfsTer24
NM_001167619.3:c.677del NP_001161091.1:p.Ser226ThrfsTer24
NM_001258271.2:c.1400del NP_001245200.1:p.Ser467ThrfsTer24
NM_001258273.2:c.677del NP_001245202.1:p.Ser226ThrfsTer24
NM_001258274.3:c.677del NP_001245203.1:p.Ser226ThrfsTer24
NM_001354615.2:c.677del NP_001341544.1:p.Ser226ThrfsTer24
NM_001354616.2:c.677del NP_001341545.1:p.Ser226ThrfsTer24
NM_001354617.2:c.677del NP_001341546.1:p.Ser226ThrfsTer24
NM_001354618.2:c.677del NP_001341547.1:p.Ser226ThrfsTer24
NM_001354619.2:c.677del NP_001341548.1:p.Ser226ThrfsTer24
NM_001354620.2:c.1106del NP_001341549.1:p.Ser369ThrfsTer24
NM_001354621.2:c.377del NP_001341550.1:p.Ser126ThrfsTer24
NM_001354622.2:c.377del NP_001341551.1:p.Ser126ThrfsTer24
NM_001354623.2:c.377del NP_001341552.1:p.Ser126ThrfsTer24
NM_001354624.2:c.326del NP_001341553.1:p.Ser109ThrfsTer24
NM_001354625.2:c.326del NP_001341554.1:p.Ser109ThrfsTer24
NM_001354626.2:c.326del NP_001341555.1:p.Ser109ThrfsTer24
NM_001354627.2:c.326del NP_001341556.1:p.Ser109ThrfsTer24
NM_001354628.2:c.1400del NP_001341557.1:p.Ser467ThrfsTer24
NM_001354629.2:c.1301del NP_001341558.1:p.Ser434ThrfsTer24
NM_001354630.2:c.1400del NP_001341559.1:p.Ser467ThrfsTer24