Canonical Allele Identifier: CA913189200
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993583_36993586del , CM000665.2:g.36993583_36993586del GRCh38
NC_000003.11:g.37035074_37035077del , CM000665.1:g.37035074_37035077del GRCh37
NC_000003.10:g.37010078_37010081del NCBI36
NG_007109.2:g.5234_5237del , LRG_216:g.5234_5237del
NG_008418.1:g.4719_4722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.36_39del ENSP00000416476.2:p.Asp12GlufsTer4
ENST00000450420.6:c.36_39del ENSP00000393006.2:p.Asp12GlufsTer4
ENST00000456676.7:c.36_39del ENSP00000416687.3:p.Asp12GlufsTer4
ENST00000458009.6:c.36_39del ENSP00000411066.2:p.Asp12GlufsTer4
ENST00000616768.6:c.36_39del ENSP00000480669.3:p.Asp12GlufsTer4
ENST00000673673.2:c.36_39del ENSP00000500979.2:p.Asp12GlufsTer4
ENST00000231790.8:c.36_39del MANE Select ENSP00000231790.3:p.Asp12GlufsTer4
ENST00000432299.6:c.36_39del ENSP00000416783.1:p.Asp12GlufsTer4
ENST00000442249.6:n.51_54del
ENST00000673713.1:n.67_70del
ENST00000673715.1:c.36_39del ENSP00000501301.1:p.Asp12GlufsTer4
ENST00000673897.1:c.36_39del ENSP00000501109.1:p.Asp12GlufsTer4
ENST00000673899.1:c.36_39del ENSP00000501030.1:p.Asp12GlufsTer4
ENST00000673947.1:c.36_39del ENSP00000501304.1:p.Asp12GlufsTer4
ENST00000673972.1:c.36_39del ENSP00000501281.1:p.Asp12GlufsTer4
ENST00000674111.1:c.36_39del ENSP00000501162.1:p.Asp12GlufsTer4
ENST00000231790.6:c.36_39del ENSP00000231790.2:p.Asp12GlufsTer4
ENST00000432299.5:c.36_39del ENSP00000416783.1:p.Asp12GlufsTer4
ENST00000442249.5:c.36_39del ENSP00000387511.1:p.Asp12GlufsTer4
ENST00000454028.5:c.36_39del ENSP00000392649.1:p.Asp12GlufsTer4
ENST00000456676.6:c.11_14del
ENST00000457004.5:c.36_39del ENSP00000407773.1:p.Asp12GlufsTer4
ENST00000536378.5:c.-597_-594del ENSP00000444286.2:n.-597_-594del
NM_000249.3:c.36_39del , LRG_216t1:c.36_39del NP_000240.1:p.Asp12GlufsTer4
NM_001258271.1:c.36_39del NP_001245200.1:p.Asp12GlufsTer4
NM_001258273.1:c.-597_-594del NP_001245202.1:n.-597_-594del
XM_005265161.1:c.36_39del XP_005265218.1:p.Asp12GlufsTer4
XM_005265164.1:c.-683_-680del XP_005265221.1:n.-683_-680del
NM_001167617.2:c.-481_-478del NP_001161089.1:n.-481_-478del
NM_001167618.2:c.-910_-907del NP_001161090.1:n.-910_-907del
NM_001167619.2:c.-823_-820del NP_001161091.1:n.-823_-820del
NM_001258274.2:c.-1060_-1057del NP_001245203.1:n.-1060_-1057del
NM_001354615.1:c.-591_-588del NP_001341544.1:n.-591_-588del
NM_001354616.1:c.-591_-588del NP_001341545.1:n.-591_-588del
NM_001354617.1:c.-683_-680del NP_001341546.1:n.-683_-680del
NM_001354618.1:c.-915_-912del NP_001341547.1:n.-915_-912del
NM_001354619.1:c.-1039_-1036del NP_001341548.1:n.-1039_-1036del
NM_001354620.1:c.-249_-246del NP_001341549.1:n.-249_-246del
NM_001354621.1:c.-1008_-1005del NP_001341550.1:n.-1008_-1005del
NM_001354622.1:c.-1121_-1118del NP_001341551.1:n.-1121_-1118del
NM_001354623.1:c.-1030_-1027del NP_001341552.1:n.-1030_-1027del
NM_001354624.1:c.-791_-788del NP_001341553.1:n.-791_-788del
NM_001354625.1:c.-689_-686del NP_001341554.1:n.-689_-686del
NM_001354626.1:c.-786_-783del NP_001341555.1:n.-786_-783del
NM_001354627.1:c.-1018_-1015del NP_001341556.1:n.-1018_-1015del
NM_001354628.1:c.36_39del NP_001341557.1:p.Asp12GlufsTer4
NM_001354629.1:c.36_39del NP_001341558.1:p.Asp12GlufsTer4
NM_001354630.1:c.36_39del NP_001341559.1:p.Asp12GlufsTer4
XM_005265161.2:c.36_39del XP_005265218.1:p.Asp12GlufsTer4
XM_017006450.2:c.-776_-773del XP_016861939.1:n.-776_-773del
NM_000249.4:c.36_39del MANE Select NP_000240.1:p.Asp12GlufsTer4
NM_001167617.3:c.-481_-478del NP_001161089.1:n.-481_-478del
NM_001167618.3:c.-910_-907del NP_001161090.1:n.-910_-907del
NM_001167619.3:c.-823_-820del NP_001161091.1:n.-823_-820del
NM_001258271.2:c.36_39del NP_001245200.1:p.Asp12GlufsTer4
NM_001258273.2:c.-597_-594del NP_001245202.1:n.-597_-594del
NM_001258274.3:c.-1060_-1057del NP_001245203.1:n.-1060_-1057del
NM_001354615.2:c.-591_-588del NP_001341544.1:n.-591_-588del
NM_001354616.2:c.-591_-588del NP_001341545.1:n.-591_-588del
NM_001354617.2:c.-683_-680del NP_001341546.1:n.-683_-680del
NM_001354618.2:c.-915_-912del NP_001341547.1:n.-915_-912del
NM_001354619.2:c.-1039_-1036del NP_001341548.1:n.-1039_-1036del
NM_001354620.2:c.-249_-246del NP_001341549.1:n.-249_-246del
NM_001354621.2:c.-1008_-1005del NP_001341550.1:n.-1008_-1005del
NM_001354622.2:c.-1121_-1118del NP_001341551.1:n.-1121_-1118del
NM_001354623.2:c.-1030_-1027del NP_001341552.1:n.-1030_-1027del
NM_001354624.2:c.-791_-788del NP_001341553.1:n.-791_-788del
NM_001354625.2:c.-689_-686del NP_001341554.1:n.-689_-686del
NM_001354626.2:c.-786_-783del NP_001341555.1:n.-786_-783del
NM_001354627.2:c.-1018_-1015del NP_001341556.1:n.-1018_-1015del
NM_001354628.2:c.36_39del NP_001341557.1:p.Asp12GlufsTer4
NM_001354629.2:c.36_39del NP_001341558.1:p.Asp12GlufsTer4
NM_001354630.2:c.36_39del NP_001341559.1:p.Asp12GlufsTer4