Canonical Allele Identifier: CA1357872296
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37008847_37008848delinsAG , CM000665.2:g.37008847_37008848delinsAG GRCh38
NC_000003.11:g.37050338_37050339delinsAG , CM000665.1:g.37050338_37050339delinsAG GRCh37
NC_000003.10:g.37025342_37025343delinsAG NCBI36
NG_007109.2:g.20498_20499delinsAG , LRG_216:g.20498_20499delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.487_488delinsAG ENSP00000416476.2:p.Arg163=
ENST00000429117.6:c.193_194delinsAG ENSP00000407019.2:p.Arg65=
ENST00000450420.6:c.487_488delinsAG ENSP00000393006.2:p.Arg163=
ENST00000456676.7:c.487_488delinsAG ENSP00000416687.3:p.Arg163=
ENST00000458009.6:c.487_488delinsAG ENSP00000411066.2:p.Arg163=
ENST00000492474.6:c.-237_-236delinsAG ENSP00000518393.1:n.-237_-236delinsAG
ENST00000616768.6:c.487_488delinsAG ENSP00000480669.3:p.Arg163=
ENST00000673673.2:c.487_488delinsAG ENSP00000500979.2:p.Arg163=
ENST00000231790.8:c.487_488delinsAG MANE Select ENSP00000231790.3:p.Arg163=
ENST00000413212.2:c.-237_-236delinsAG ENSP00000400844.2:n.-237_-236delinsAG
ENST00000432299.6:c.*567_*568delinsAG ENSP00000416783.1:n.*567_*568delinsAG
ENST00000441265.6:c.-237_-236delinsAG ENSP00000398392.2:n.-237_-236delinsAG
ENST00000442249.6:n.502_503delinsAG
ENST00000447829.6:c.124_125delinsAG ENSP00000399329.2:p.Arg42=
ENST00000539477.6:c.-179+1784_-179+1785delinsAG ENSP00000443665.1:n.-179+1784_-179+1785delinsAG
ENST00000673673.1:c.440_441delinsAG
ENST00000673713.1:n.518_519delinsAG
ENST00000673715.1:c.487_488delinsAG ENSP00000501301.1:p.Arg163=
ENST00000673897.1:c.*279_*280delinsAG ENSP00000501109.1:n.*279_*280delinsAG
ENST00000673899.1:c.487_488delinsAG ENSP00000501030.1:p.Arg163=
ENST00000673947.1:c.*627_*628delinsAG ENSP00000501304.1:n.*627_*628delinsAG
ENST00000673972.1:c.*365_*366delinsAG ENSP00000501281.1:n.*365_*366delinsAG
ENST00000673990.1:n.472_473delinsAG
ENST00000674019.1:c.-237_-236delinsAG ENSP00000501081.1:n.-237_-236delinsAG
ENST00000674107.1:n.429_430delinsAG
ENST00000674111.1:c.487_488delinsAG ENSP00000501162.1:p.Arg163=
ENST00000231790.6:c.487_488delinsAG ENSP00000231790.2:p.Arg163=
ENST00000429117.5:c.193_194delinsAG ENSP00000407019.1:p.Arg65=
ENST00000432299.5:c.*567_*568delinsAG ENSP00000416783.1:n.*567_*568delinsAG
ENST00000435176.5:c.193_194delinsAG ENSP00000402564.1:p.Arg65=
ENST00000441265.5:c.-179+1784_-179+1785delinsAG ENSP00000398392.1:n.-179+1784_-179+1785delinsAG
ENST00000442249.5:c.*279_*280delinsAG ENSP00000387511.1:n.*279_*280delinsAG
ENST00000454028.5:c.*360_*361delinsAG ENSP00000392649.1:n.*360_*361delinsAG
ENST00000455445.6:c.-237_-236delinsAG ENSP00000398272.2:n.-237_-236delinsAG
ENST00000456676.6:c.462_463delinsAG
ENST00000457004.5:c.*266_*267delinsAG ENSP00000407773.1:n.*266_*267delinsAG
ENST00000458205.6:c.-237_-236delinsAG ENSP00000402667.2:n.-237_-236delinsAG
ENST00000466900.5:n.520_521delinsAG
ENST00000485889.1:n.491_492delinsAG
ENST00000492474.5:n.510_511delinsAG
ENST00000536378.5:c.-237_-236delinsAG ENSP00000444286.2:n.-237_-236delinsAG
ENST00000539477.5:c.-179+1784_-179+1785delinsAG ENSP00000443665.1:n.-179+1784_-179+1785delinsAG
NM_000249.3:c.487_488delinsAG , LRG_216t1:c.487_488delinsAG NP_000240.1:p.Arg163=
NM_001167617.1:c.193_194delinsAG NP_001161089.1:p.Arg65=
NM_001167618.1:c.-237_-236delinsAG NP_001161090.1:n.-237_-236delinsAG
NM_001167619.1:c.-179+1784_-179+1785delinsAG NP_001161091.1:n.-179+1784_-179+1785delinsAG
NM_001258271.1:c.487_488delinsAG NP_001245200.1:p.Arg163=
NM_001258273.1:c.-237_-236delinsAG NP_001245202.1:n.-237_-236delinsAG
NM_001258274.1:c.-237_-236delinsAG NP_001245203.1:n.-237_-236delinsAG
XM_005265161.1:c.487_488delinsAG XP_005265218.1:p.Arg163=
XM_005265163.1:c.-237_-236delinsAG XP_005265220.1:n.-237_-236delinsAG
XM_005265164.1:c.-237_-236delinsAG XP_005265221.1:n.-237_-236delinsAG
XM_005265166.1:c.-443_-442delinsAG XP_005265223.1:n.-443_-442delinsAG
XM_011533727.1:c.-340_-339delinsAG XP_011532029.1:n.-340_-339delinsAG
NM_001167617.2:c.193_194delinsAG NP_001161089.1:p.Arg65=
NM_001167618.2:c.-237_-236delinsAG NP_001161090.1:n.-237_-236delinsAG
NM_001167619.2:c.-179+1784_-179+1785delinsAG NP_001161091.1:n.-179+1784_-179+1785delinsAG
NM_001258274.2:c.-237_-236delinsAG NP_001245203.1:n.-237_-236delinsAG
NM_001354615.1:c.-179+1784_-179+1785delinsAG NP_001341544.1:n.-179+1784_-179+1785delinsAG
NM_001354616.1:c.-179+1784_-179+1785delinsAG NP_001341545.1:n.-179+1784_-179+1785delinsAG
NM_001354617.1:c.-237_-236delinsAG NP_001341546.1:n.-237_-236delinsAG
NM_001354618.1:c.-237_-236delinsAG NP_001341547.1:n.-237_-236delinsAG
NM_001354619.1:c.-237_-236delinsAG NP_001341548.1:n.-237_-236delinsAG
NM_001354620.1:c.193_194delinsAG NP_001341549.1:p.Arg65=
NM_001354621.1:c.-330_-329delinsAG NP_001341550.1:n.-330_-329delinsAG
NM_001354622.1:c.-443_-442delinsAG NP_001341551.1:n.-443_-442delinsAG
NM_001354623.1:c.-443_-442delinsAG NP_001341552.1:n.-443_-442delinsAG
NM_001354624.1:c.-340_-339delinsAG NP_001341553.1:n.-340_-339delinsAG
NM_001354625.1:c.-282+1784_-282+1785delinsAG NP_001341554.1:n.-282+1784_-282+1785delinsAG
NM_001354626.1:c.-340_-339delinsAG NP_001341555.1:n.-340_-339delinsAG
NM_001354627.1:c.-340_-339delinsAG NP_001341556.1:n.-340_-339delinsAG
NM_001354628.1:c.487_488delinsAG NP_001341557.1:p.Arg163=
NM_001354629.1:c.388_389delinsAG NP_001341558.1:p.Arg130=
NM_001354630.1:c.487_488delinsAG NP_001341559.1:p.Arg163=
XM_005265161.2:c.487_488delinsAG XP_005265218.1:p.Arg163=
XM_017006450.2:c.-330_-329delinsAG XP_016861939.1:n.-330_-329delinsAG
NM_000249.4:c.487_488delinsAG MANE Select NP_000240.1:p.Arg163=
NM_001167617.3:c.193_194delinsAG NP_001161089.1:p.Arg65=
NM_001167618.3:c.-237_-236delinsAG NP_001161090.1:n.-237_-236delinsAG
NM_001167619.3:c.-179+1784_-179+1785delinsAG NP_001161091.1:n.-179+1784_-179+1785delinsAG
NM_001258271.2:c.487_488delinsAG NP_001245200.1:p.Arg163=
NM_001258273.2:c.-237_-236delinsAG NP_001245202.1:n.-237_-236delinsAG
NM_001258274.3:c.-237_-236delinsAG NP_001245203.1:n.-237_-236delinsAG
NM_001354615.2:c.-179+1784_-179+1785delinsAG NP_001341544.1:n.-179+1784_-179+1785delinsAG
NM_001354616.2:c.-179+1784_-179+1785delinsAG NP_001341545.1:n.-179+1784_-179+1785delinsAG
NM_001354617.2:c.-237_-236delinsAG NP_001341546.1:n.-237_-236delinsAG
NM_001354618.2:c.-237_-236delinsAG NP_001341547.1:n.-237_-236delinsAG
NM_001354619.2:c.-237_-236delinsAG NP_001341548.1:n.-237_-236delinsAG
NM_001354620.2:c.193_194delinsAG NP_001341549.1:p.Arg65=
NM_001354621.2:c.-330_-329delinsAG NP_001341550.1:n.-330_-329delinsAG
NM_001354622.2:c.-443_-442delinsAG NP_001341551.1:n.-443_-442delinsAG
NM_001354623.2:c.-443_-442delinsAG NP_001341552.1:n.-443_-442delinsAG
NM_001354624.2:c.-340_-339delinsAG NP_001341553.1:n.-340_-339delinsAG
NM_001354625.2:c.-282+1784_-282+1785delinsAG NP_001341554.1:n.-282+1784_-282+1785delinsAG
NM_001354626.2:c.-340_-339delinsAG NP_001341555.1:n.-340_-339delinsAG
NM_001354627.2:c.-340_-339delinsAG NP_001341556.1:n.-340_-339delinsAG
NM_001354628.2:c.487_488delinsAG NP_001341557.1:p.Arg163=
NM_001354629.2:c.388_389delinsAG NP_001341558.1:p.Arg130=
NM_001354630.2:c.487_488delinsAG NP_001341559.1:p.Arg163=