Canonical Allele Identifier: CA1357880261
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37025667_37025674delinsGGGGAGAT , CM000665.2:g.37025667_37025674delinsGGGGAGAT GRCh38
NC_000003.11:g.37067158_37067165delinsGGGGAGAT , CM000665.1:g.37067158_37067165delinsGGGGAGAT GRCh37
NC_000003.10:g.37042162_37042169delinsGGGGAGAT NCBI36
NG_007109.2:g.37318_37325delinsGGGGAGAT , LRG_216:g.37318_37325delinsGGGGAGAT

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1069_1076delinsGGGGAGAT ENSP00000416476.2:p.Gly357=
ENST00000429117.6:c.775_782delinsGGGGAGAT ENSP00000407019.2:p.Gly259=
ENST00000450420.6:c.1069_1076delinsGGGGAGAT ENSP00000393006.2:p.Gly357=
ENST00000456676.7:c.1069_1076delinsGGGGAGAT ENSP00000416687.3:p.Gly357=
ENST00000458009.6:c.915_922delinsGGGGAGAT ENSP00000411066.2:p.Leu305=
ENST00000492474.6:c.346_353delinsGGGGAGAT ENSP00000518393.1:p.Gly116=
ENST00000616768.6:c.1069_1076delinsGGGGAGAT ENSP00000480669.3:p.Gly357=
ENST00000673673.2:c.1069_1076delinsGGGGAGAT ENSP00000500979.2:p.Gly357=
ENST00000231790.8:c.1069_1076delinsGGGGAGAT MANE Select ENSP00000231790.3:p.Gly357=
ENST00000413212.2:c.98_105delinsGGGGAGAT ENSP00000400844.2:p.Trp33=
ENST00000432299.6:c.*901_*908delinsGGGGAGAT ENSP00000416783.1:n.*901_*908delinsGGGGAG...
ENST00000441265.6:c.346_353delinsGGGGAGAT ENSP00000398392.2:p.Gly116=
ENST00000442249.6:n.877_884delinsGGGGAGAT
ENST00000447829.6:c.*180_*187delinsGGGGAGAT ENSP00000399329.2:n.*180_*187delinsGGGGAG...
ENST00000539477.6:c.346_353delinsGGGGAGAT ENSP00000443665.1:p.Gly116=
ENST00000616768.5:c.106_113delinsGGGGAGAT ENSP00000480669.2:p.Gly36=
ENST00000673673.1:c.1022_1029delinsGGGGAGAT
ENST00000673713.1:n.1193_1200delinsGGGGAGAT
ENST00000673715.1:c.1069_1076delinsGGGGAGAT ENSP00000501301.1:p.Gly357=
ENST00000673889.1:n.451_458delinsGGGGAGAT
ENST00000673897.1:c.*861_*868delinsGGGGAGAT ENSP00000501109.1:n.*861_*868delinsGGGGAG...
ENST00000673899.1:c.678-3117_678-3110delinsGGGGAGAT ENSP00000501030.1:n.678-3117_678-3110deli...
ENST00000673947.1:c.*1209_*1216delinsGGGGAGAT ENSP00000501304.1:n.*1209_*1216delinsGGGG...
ENST00000673972.1:c.*947_*954delinsGGGGAGAT ENSP00000501281.1:n.*947_*954delinsGGGGAG...
ENST00000673990.1:n.960_967delinsGGGGAGAT
ENST00000674019.1:c.346_353delinsGGGGAGAT ENSP00000501081.1:p.Gly116=
ENST00000674107.1:n.917_924delinsGGGGAGAT
ENST00000674111.1:c.1069_1076delinsGGGGAGAT ENSP00000501162.1:p.Gly357=
ENST00000231790.6:c.1069_1076delinsGGGGAGAT ENSP00000231790.2:p.Gly357=
ENST00000413212.1:c.144_151delinsGGGGAGAT
ENST00000435176.5:c.775_782delinsGGGGAGAT ENSP00000402564.1:p.Gly259=
ENST00000447829.5:c.356_363delinsGGGGAGAT
ENST00000455445.6:c.346_353delinsGGGGAGAT ENSP00000398272.2:p.Gly116=
ENST00000456676.6:c.1044_1051delinsGGGGAGAT
ENST00000458009.5:c.256_263delinsGGGGAGAT
ENST00000458205.6:c.346_353delinsGGGGAGAT ENSP00000402667.2:p.Gly116=
ENST00000536378.5:c.346_353delinsGGGGAGAT ENSP00000444286.2:p.Gly116=
ENST00000539477.5:c.346_353delinsGGGGAGAT ENSP00000443665.1:p.Gly116=
NM_000249.3:c.1069_1076delinsGGGGAGAT , LRG_216t1:c.1069_1076delinsGGGGAGAT NP_000240.1:p.Gly357=
NM_001167617.1:c.775_782delinsGGGGAGAT NP_001161089.1:p.Gly259=
NM_001167618.1:c.346_353delinsGGGGAGAT NP_001161090.1:p.Gly116=
NM_001167619.1:c.346_353delinsGGGGAGAT NP_001161091.1:p.Gly116=
NM_001258271.1:c.1069_1076delinsGGGGAGAT NP_001245200.1:p.Gly357=
NM_001258273.1:c.346_353delinsGGGGAGAT NP_001245202.1:p.Gly116=
NM_001258274.1:c.346_353delinsGGGGAGAT NP_001245203.1:p.Gly116=
XM_005265161.1:c.862_869delinsGGGGAGAT XP_005265218.1:p.Gly288=
XM_005265163.1:c.346_353delinsGGGGAGAT XP_005265220.1:p.Gly116=
XM_005265164.1:c.346_353delinsGGGGAGAT XP_005265221.1:p.Gly116=
XM_005265166.1:c.46_53delinsGGGGAGAT XP_005265223.1:p.Gly16=
XM_011533727.1:c.-6_2delinsGGGGAGAT
NM_001167617.2:c.775_782delinsGGGGAGAT NP_001161089.1:p.Gly259=
NM_001167618.2:c.346_353delinsGGGGAGAT NP_001161090.1:p.Gly116=
NM_001167619.2:c.346_353delinsGGGGAGAT NP_001161091.1:p.Gly116=
NM_001258274.2:c.346_353delinsGGGGAGAT NP_001245203.1:p.Gly116=
NM_001354615.1:c.346_353delinsGGGGAGAT NP_001341544.1:p.Gly116=
NM_001354616.1:c.346_353delinsGGGGAGAT NP_001341545.1:p.Gly116=
NM_001354617.1:c.346_353delinsGGGGAGAT NP_001341546.1:p.Gly116=
NM_001354618.1:c.346_353delinsGGGGAGAT NP_001341547.1:p.Gly116=
NM_001354619.1:c.346_353delinsGGGGAGAT NP_001341548.1:p.Gly116=
NM_001354620.1:c.775_782delinsGGGGAGAT NP_001341549.1:p.Gly259=
NM_001354621.1:c.46_53delinsGGGGAGAT NP_001341550.1:p.Gly16=
NM_001354622.1:c.46_53delinsGGGGAGAT NP_001341551.1:p.Gly16=
NM_001354623.1:c.46_53delinsGGGGAGAT NP_001341552.1:p.Gly16=
NM_001354624.1:c.-6_2delinsGGGGAGAT
NM_001354625.1:c.-6_2delinsGGGGAGAT
NM_001354626.1:c.-6_2delinsGGGGAGAT
NM_001354627.1:c.-6_2delinsGGGGAGAT
NM_001354628.1:c.1069_1076delinsGGGGAGAT NP_001341557.1:p.Gly357=
NM_001354629.1:c.970_977delinsGGGGAGAT NP_001341558.1:p.Gly324=
NM_001354630.1:c.1069_1076delinsGGGGAGAT NP_001341559.1:p.Gly357=
XM_005265161.2:c.862_869delinsGGGGAGAT XP_005265218.1:p.Gly288=
XM_017006450.2:c.46_53delinsGGGGAGAT XP_016861939.1:p.Gly16=
NM_000249.4:c.1069_1076delinsGGGGAGAT MANE Select NP_000240.1:p.Gly357=
NM_001167617.3:c.775_782delinsGGGGAGAT NP_001161089.1:p.Gly259=
NM_001167618.3:c.346_353delinsGGGGAGAT NP_001161090.1:p.Gly116=
NM_001167619.3:c.346_353delinsGGGGAGAT NP_001161091.1:p.Gly116=
NM_001258271.2:c.1069_1076delinsGGGGAGAT NP_001245200.1:p.Gly357=
NM_001258273.2:c.346_353delinsGGGGAGAT NP_001245202.1:p.Gly116=
NM_001258274.3:c.346_353delinsGGGGAGAT NP_001245203.1:p.Gly116=
NM_001354615.2:c.346_353delinsGGGGAGAT NP_001341544.1:p.Gly116=
NM_001354616.2:c.346_353delinsGGGGAGAT NP_001341545.1:p.Gly116=
NM_001354617.2:c.346_353delinsGGGGAGAT NP_001341546.1:p.Gly116=
NM_001354618.2:c.346_353delinsGGGGAGAT NP_001341547.1:p.Gly116=
NM_001354619.2:c.346_353delinsGGGGAGAT NP_001341548.1:p.Gly116=
NM_001354620.2:c.775_782delinsGGGGAGAT NP_001341549.1:p.Gly259=
NM_001354621.2:c.46_53delinsGGGGAGAT NP_001341550.1:p.Gly16=
NM_001354622.2:c.46_53delinsGGGGAGAT NP_001341551.1:p.Gly16=
NM_001354623.2:c.46_53delinsGGGGAGAT NP_001341552.1:p.Gly16=
NM_001354624.2:c.-6_2delinsGGGGAGAT
NM_001354625.2:c.-6_2delinsGGGGAGAT
NM_001354626.2:c.-6_2delinsGGGGAGAT
NM_001354627.2:c.-6_2delinsGGGGAGAT
NM_001354628.2:c.1069_1076delinsGGGGAGAT NP_001341557.1:p.Gly357=
NM_001354629.2:c.970_977delinsGGGGAGAT NP_001341558.1:p.Gly324=
NM_001354630.2:c.1069_1076delinsGGGGAGAT NP_001341559.1:p.Gly357=