Canonical Allele Identifier: CA1357864834
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993592_36993599delinsGGTGAACC , CM000665.2:g.36993592_36993599delinsGGTGAACC GRCh38
NC_000003.11:g.37035083_37035090delinsGGTGAACC , CM000665.1:g.37035083_37035090delinsGGTGAACC GRCh37
NC_000003.10:g.37010087_37010094delinsGGTGAACC NCBI36
NG_007109.2:g.5243_5250delinsGGTGAACC , LRG_216:g.5243_5250delinsGGTGAACC
NG_008418.1:g.4706_4713delinsGGTTCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.45_52delinsGGTGAACC ENSP00000416476.2:p.Val15=
ENST00000450420.6:c.45_52delinsGGTGAACC ENSP00000393006.2:p.Val15=
ENST00000456676.7:c.45_52delinsGGTGAACC ENSP00000416687.3:p.Val15=
ENST00000458009.6:c.45_52delinsGGTGAACC ENSP00000411066.2:p.Val15=
ENST00000616768.6:c.45_52delinsGGTGAACC ENSP00000480669.3:p.Val15=
ENST00000673673.2:c.45_52delinsGGTGAACC ENSP00000500979.2:p.Val15=
ENST00000231790.8:c.45_52delinsGGTGAACC MANE Select ENSP00000231790.3:p.Val15=
ENST00000432299.6:c.45_52delinsGGTGAACC ENSP00000416783.1:p.Val15=
ENST00000442249.6:n.60_67delinsGGTGAACC
ENST00000673713.1:n.76_83delinsGGTGAACC
ENST00000673715.1:c.45_52delinsGGTGAACC ENSP00000501301.1:p.Val15=
ENST00000673897.1:c.45_52delinsGGTGAACC ENSP00000501109.1:p.Val15=
ENST00000673899.1:c.45_52delinsGGTGAACC ENSP00000501030.1:p.Val15=
ENST00000673947.1:c.45_52delinsGGTGAACC ENSP00000501304.1:p.Val15=
ENST00000673972.1:c.45_52delinsGGTGAACC ENSP00000501281.1:p.Val15=
ENST00000674111.1:c.45_52delinsGGTGAACC ENSP00000501162.1:p.Val15=
ENST00000231790.6:c.45_52delinsGGTGAACC ENSP00000231790.2:p.Val15=
ENST00000432299.5:c.45_52delinsGGTGAACC ENSP00000416783.1:p.Val15=
ENST00000442249.5:c.45_52delinsGGTGAACC ENSP00000387511.1:p.Val15=
ENST00000454028.5:c.45_52delinsGGTGAACC ENSP00000392649.1:p.Val15=
ENST00000456676.6:c.20_27delinsGGTGAACC
ENST00000457004.5:c.45_52delinsGGTGAACC ENSP00000407773.1:p.Val15=
ENST00000536378.5:c.-588_-581delinsGGTGAACC ENSP00000444286.2:n.-588_-581delinsGGTGAACC
NM_000249.3:c.45_52delinsGGTGAACC , LRG_216t1:c.45_52delinsGGTGAACC NP_000240.1:p.Val15=
NM_001258271.1:c.45_52delinsGGTGAACC NP_001245200.1:p.Val15=
NM_001258273.1:c.-588_-581delinsGGTGAACC NP_001245202.1:n.-588_-581delinsGGTGAACC
XM_005265161.1:c.45_52delinsGGTGAACC XP_005265218.1:p.Val15=
XM_005265164.1:c.-674_-667delinsGGTGAACC XP_005265221.1:n.-674_-667delinsGGTGAACC
NM_001167617.2:c.-472_-465delinsGGTGAACC NP_001161089.1:n.-472_-465delinsGGTGAACC
NM_001167618.2:c.-901_-894delinsGGTGAACC NP_001161090.1:n.-901_-894delinsGGTGAACC
NM_001167619.2:c.-814_-807delinsGGTGAACC NP_001161091.1:n.-814_-807delinsGGTGAACC
NM_001258274.2:c.-1051_-1044delinsGGTGAACC NP_001245203.1:n.-1051_-1044delinsGGTGAACC
NM_001354615.1:c.-582_-575delinsGGTGAACC NP_001341544.1:n.-582_-575delinsGGTGAACC
NM_001354616.1:c.-582_-575delinsGGTGAACC NP_001341545.1:n.-582_-575delinsGGTGAACC
NM_001354617.1:c.-674_-667delinsGGTGAACC NP_001341546.1:n.-674_-667delinsGGTGAACC
NM_001354618.1:c.-906_-899delinsGGTGAACC NP_001341547.1:n.-906_-899delinsGGTGAACC
NM_001354619.1:c.-1030_-1023delinsGGTGAACC NP_001341548.1:n.-1030_-1023delinsGGTGAACC
NM_001354620.1:c.-240_-233delinsGGTGAACC NP_001341549.1:n.-240_-233delinsGGTGAACC
NM_001354621.1:c.-999_-992delinsGGTGAACC NP_001341550.1:n.-999_-992delinsGGTGAACC
NM_001354622.1:c.-1112_-1105delinsGGTGAACC NP_001341551.1:n.-1112_-1105delinsGGTGAACC
NM_001354623.1:c.-1021_-1014delinsGGTGAACC NP_001341552.1:n.-1021_-1014delinsGGTGAACC
NM_001354624.1:c.-782_-775delinsGGTGAACC NP_001341553.1:n.-782_-775delinsGGTGAACC
NM_001354625.1:c.-680_-673delinsGGTGAACC NP_001341554.1:n.-680_-673delinsGGTGAACC
NM_001354626.1:c.-777_-770delinsGGTGAACC NP_001341555.1:n.-777_-770delinsGGTGAACC
NM_001354627.1:c.-1009_-1002delinsGGTGAACC NP_001341556.1:n.-1009_-1002delinsGGTGAACC
NM_001354628.1:c.45_52delinsGGTGAACC NP_001341557.1:p.Val15=
NM_001354629.1:c.45_52delinsGGTGAACC NP_001341558.1:p.Val15=
NM_001354630.1:c.45_52delinsGGTGAACC NP_001341559.1:p.Val15=
XM_005265161.2:c.45_52delinsGGTGAACC XP_005265218.1:p.Val15=
XM_017006450.2:c.-767_-760delinsGGTGAACC XP_016861939.1:n.-767_-760delinsGGTGAACC
NM_000249.4:c.45_52delinsGGTGAACC MANE Select NP_000240.1:p.Val15=
NM_001167617.3:c.-472_-465delinsGGTGAACC NP_001161089.1:n.-472_-465delinsGGTGAACC
NM_001167618.3:c.-901_-894delinsGGTGAACC NP_001161090.1:n.-901_-894delinsGGTGAACC
NM_001167619.3:c.-814_-807delinsGGTGAACC NP_001161091.1:n.-814_-807delinsGGTGAACC
NM_001258271.2:c.45_52delinsGGTGAACC NP_001245200.1:p.Val15=
NM_001258273.2:c.-588_-581delinsGGTGAACC NP_001245202.1:n.-588_-581delinsGGTGAACC
NM_001258274.3:c.-1051_-1044delinsGGTGAACC NP_001245203.1:n.-1051_-1044delinsGGTGAACC
NM_001354615.2:c.-582_-575delinsGGTGAACC NP_001341544.1:n.-582_-575delinsGGTGAACC
NM_001354616.2:c.-582_-575delinsGGTGAACC NP_001341545.1:n.-582_-575delinsGGTGAACC
NM_001354617.2:c.-674_-667delinsGGTGAACC NP_001341546.1:n.-674_-667delinsGGTGAACC
NM_001354618.2:c.-906_-899delinsGGTGAACC NP_001341547.1:n.-906_-899delinsGGTGAACC
NM_001354619.2:c.-1030_-1023delinsGGTGAACC NP_001341548.1:n.-1030_-1023delinsGGTGAACC
NM_001354620.2:c.-240_-233delinsGGTGAACC NP_001341549.1:n.-240_-233delinsGGTGAACC
NM_001354621.2:c.-999_-992delinsGGTGAACC NP_001341550.1:n.-999_-992delinsGGTGAACC
NM_001354622.2:c.-1112_-1105delinsGGTGAACC NP_001341551.1:n.-1112_-1105delinsGGTGAACC
NM_001354623.2:c.-1021_-1014delinsGGTGAACC NP_001341552.1:n.-1021_-1014delinsGGTGAACC
NM_001354624.2:c.-782_-775delinsGGTGAACC NP_001341553.1:n.-782_-775delinsGGTGAACC
NM_001354625.2:c.-680_-673delinsGGTGAACC NP_001341554.1:n.-680_-673delinsGGTGAACC
NM_001354626.2:c.-777_-770delinsGGTGAACC NP_001341555.1:n.-777_-770delinsGGTGAACC
NM_001354627.2:c.-1009_-1002delinsGGTGAACC NP_001341556.1:n.-1009_-1002delinsGGTGAACC
NM_001354628.2:c.45_52delinsGGTGAACC NP_001341557.1:p.Val15=
NM_001354629.2:c.45_52delinsGGTGAACC NP_001341558.1:p.Val15=
NM_001354630.2:c.45_52delinsGGTGAACC NP_001341559.1:p.Val15=