Canonical Allele Identifier: CA2580069355
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1792167

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993558_36993559del , CM000665.2:g.36993558_36993559del GRCh38
NC_000003.11:g.37035049_37035050del , CM000665.1:g.37035049_37035050del GRCh37
NC_000003.10:g.37010053_37010054del NCBI36
NG_007109.2:g.5209_5210del , LRG_216:g.5209_5210del
NG_008418.1:g.4747_4748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.11_12del ENSP00000416476.2:p.Val4GlyfsTer26
ENST00000450420.6:c.11_12del ENSP00000393006.2:p.Val4GlyfsTer26
ENST00000456676.7:c.11_12del ENSP00000416687.3:p.Val4GlyfsTer26
ENST00000458009.6:c.11_12del ENSP00000411066.2:p.Val4GlyfsTer26
ENST00000616768.6:c.11_12del ENSP00000480669.3:p.Val4GlyfsTer26
ENST00000673673.2:c.11_12del ENSP00000500979.2:p.Val4GlyfsTer26
ENST00000231790.8:c.11_12del MANE Select ENSP00000231790.3:p.Val4GlyfsTer26
ENST00000432299.6:c.11_12del ENSP00000416783.1:p.Val4GlyfsTer26
ENST00000442249.6:n.26_27del
ENST00000673713.1:n.42_43del
ENST00000673715.1:c.11_12del ENSP00000501301.1:p.Val4GlyfsTer26
ENST00000673897.1:c.11_12del ENSP00000501109.1:p.Val4GlyfsTer26
ENST00000673899.1:c.11_12del ENSP00000501030.1:p.Val4GlyfsTer26
ENST00000673947.1:c.11_12del ENSP00000501304.1:p.Val4GlyfsTer26
ENST00000673972.1:c.11_12del ENSP00000501281.1:p.Val4GlyfsTer26
ENST00000674111.1:c.11_12del ENSP00000501162.1:p.Val4GlyfsTer26
ENST00000231790.6:c.11_12del ENSP00000231790.2:p.Val4GlyfsTer26
ENST00000432299.5:c.11_12del ENSP00000416783.1:p.Val4GlyfsTer26
ENST00000442249.5:c.11_12del ENSP00000387511.1:p.Val4GlyfsTer26
ENST00000454028.5:c.11_12del ENSP00000392649.1:p.Val4GlyfsTer26
ENST00000457004.5:c.11_12del ENSP00000407773.1:p.Val4GlyfsTer26
ENST00000536378.5:c.-622_-621del ENSP00000444286.2:n.-622_-621del
NM_000249.3:c.11_12del , LRG_216t1:c.11_12del NP_000240.1:p.Val4GlyfsTer26
NM_001258271.1:c.11_12del NP_001245200.1:p.Val4GlyfsTer26
NM_001258273.1:c.-622_-621del NP_001245202.1:n.-622_-621del
XM_005265161.1:c.11_12del XP_005265218.1:p.Val4GlyfsTer26
XM_005265164.1:c.-708_-707del XP_005265221.1:n.-708_-707del
NM_001167617.2:c.-506_-505del NP_001161089.1:n.-506_-505del
NM_001167618.2:c.-935_-934del NP_001161090.1:n.-935_-934del
NM_001167619.2:c.-848_-847del NP_001161091.1:n.-848_-847del
NM_001258274.2:c.-1085_-1084del NP_001245203.1:n.-1085_-1084del
NM_001354615.1:c.-616_-615del NP_001341544.1:n.-616_-615del
NM_001354616.1:c.-616_-615del NP_001341545.1:n.-616_-615del
NM_001354617.1:c.-708_-707del NP_001341546.1:n.-708_-707del
NM_001354618.1:c.-940_-939del NP_001341547.1:n.-940_-939del
NM_001354619.1:c.-1064_-1063del NP_001341548.1:n.-1064_-1063del
NM_001354620.1:c.-274_-273del NP_001341549.1:n.-274_-273del
NM_001354621.1:c.-1033_-1032del NP_001341550.1:n.-1033_-1032del
NM_001354622.1:c.-1146_-1145del NP_001341551.1:n.-1146_-1145del
NM_001354623.1:c.-1055_-1054del NP_001341552.1:n.-1055_-1054del
NM_001354624.1:c.-816_-815del NP_001341553.1:n.-816_-815del
NM_001354625.1:c.-714_-713del NP_001341554.1:n.-714_-713del
NM_001354626.1:c.-811_-810del NP_001341555.1:n.-811_-810del
NM_001354627.1:c.-1043_-1042del NP_001341556.1:n.-1043_-1042del
NM_001354628.1:c.11_12del NP_001341557.1:p.Val4GlyfsTer26
NM_001354629.1:c.11_12del NP_001341558.1:p.Val4GlyfsTer26
NM_001354630.1:c.11_12del NP_001341559.1:p.Val4GlyfsTer26
XM_005265161.2:c.11_12del XP_005265218.1:p.Val4GlyfsTer26
XM_017006450.2:c.-801_-800del XP_016861939.1:n.-801_-800del
NM_000249.4:c.11_12del MANE Select NP_000240.1:p.Val4GlyfsTer26
NM_001167617.3:c.-506_-505del NP_001161089.1:n.-506_-505del
NM_001167618.3:c.-935_-934del NP_001161090.1:n.-935_-934del
NM_001167619.3:c.-848_-847del NP_001161091.1:n.-848_-847del
NM_001258271.2:c.11_12del NP_001245200.1:p.Val4GlyfsTer26
NM_001258273.2:c.-622_-621del NP_001245202.1:n.-622_-621del
NM_001258274.3:c.-1085_-1084del NP_001245203.1:n.-1085_-1084del
NM_001354615.2:c.-616_-615del NP_001341544.1:n.-616_-615del
NM_001354616.2:c.-616_-615del NP_001341545.1:n.-616_-615del
NM_001354617.2:c.-708_-707del NP_001341546.1:n.-708_-707del
NM_001354618.2:c.-940_-939del NP_001341547.1:n.-940_-939del
NM_001354619.2:c.-1064_-1063del NP_001341548.1:n.-1064_-1063del
NM_001354620.2:c.-274_-273del NP_001341549.1:n.-274_-273del
NM_001354621.2:c.-1033_-1032del NP_001341550.1:n.-1033_-1032del
NM_001354622.2:c.-1146_-1145del NP_001341551.1:n.-1146_-1145del
NM_001354623.2:c.-1055_-1054del NP_001341552.1:n.-1055_-1054del
NM_001354624.2:c.-816_-815del NP_001341553.1:n.-816_-815del
NM_001354625.2:c.-714_-713del NP_001341554.1:n.-714_-713del
NM_001354626.2:c.-811_-810del NP_001341555.1:n.-811_-810del
NM_001354627.2:c.-1043_-1042del NP_001341556.1:n.-1043_-1042del
NM_001354628.2:c.11_12del NP_001341557.1:p.Val4GlyfsTer26
NM_001354629.2:c.11_12del NP_001341558.1:p.Val4GlyfsTer26
NM_001354630.2:c.11_12del NP_001341559.1:p.Val4GlyfsTer26