Canonical Allele Identifier: CA2581463439
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993562_36993563del , CM000665.2:g.36993562_36993563del GRCh38
NC_000003.11:g.37035053_37035054del , CM000665.1:g.37035053_37035054del GRCh37
NC_000003.10:g.37010057_37010058del NCBI36
NG_007109.2:g.5213_5214del , LRG_216:g.5213_5214del
NG_008418.1:g.4742_4743del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.15_16del ENSP00000416476.2:p.Val7TyrfsTer23
ENST00000450420.6:c.15_16del ENSP00000393006.2:p.Val7TyrfsTer23
ENST00000456676.7:c.15_16del ENSP00000416687.3:p.Val7TyrfsTer23
ENST00000458009.6:c.15_16del ENSP00000411066.2:p.Val7TyrfsTer23
ENST00000616768.6:c.15_16del ENSP00000480669.3:p.Val7TyrfsTer23
ENST00000673673.2:c.15_16del ENSP00000500979.2:p.Val7TyrfsTer23
ENST00000231790.8:c.15_16del MANE Select ENSP00000231790.3:p.Val7TyrfsTer23
ENST00000432299.6:c.15_16del ENSP00000416783.1:p.Val7TyrfsTer23
ENST00000442249.6:n.30_31del
ENST00000673713.1:n.46_47del
ENST00000673715.1:c.15_16del ENSP00000501301.1:p.Val7TyrfsTer23
ENST00000673897.1:c.15_16del ENSP00000501109.1:p.Val7TyrfsTer23
ENST00000673899.1:c.15_16del ENSP00000501030.1:p.Val7TyrfsTer23
ENST00000673947.1:c.15_16del ENSP00000501304.1:p.Val7TyrfsTer23
ENST00000673972.1:c.15_16del ENSP00000501281.1:p.Val7TyrfsTer23
ENST00000674111.1:c.15_16del ENSP00000501162.1:p.Val7TyrfsTer23
ENST00000231790.6:c.15_16del ENSP00000231790.2:p.Val7TyrfsTer23
ENST00000432299.5:c.15_16del ENSP00000416783.1:p.Val7TyrfsTer23
ENST00000442249.5:c.15_16del ENSP00000387511.1:p.Val7TyrfsTer23
ENST00000454028.5:c.15_16del ENSP00000392649.1:p.Val7TyrfsTer23
ENST00000457004.5:c.15_16del ENSP00000407773.1:p.Val7TyrfsTer23
ENST00000536378.5:c.-618_-617del ENSP00000444286.2:n.-618_-617del
NM_000249.3:c.15_16del , LRG_216t1:c.15_16del NP_000240.1:p.Val7TyrfsTer23
NM_001258271.1:c.15_16del NP_001245200.1:p.Val7TyrfsTer23
NM_001258273.1:c.-618_-617del NP_001245202.1:n.-618_-617del
XM_005265161.1:c.15_16del XP_005265218.1:p.Val7TyrfsTer23
XM_005265164.1:c.-704_-703del XP_005265221.1:n.-704_-703del
NM_001167617.2:c.-502_-501del NP_001161089.1:n.-502_-501del
NM_001167618.2:c.-931_-930del NP_001161090.1:n.-931_-930del
NM_001167619.2:c.-844_-843del NP_001161091.1:n.-844_-843del
NM_001258274.2:c.-1081_-1080del NP_001245203.1:n.-1081_-1080del
NM_001354615.1:c.-612_-611del NP_001341544.1:n.-612_-611del
NM_001354616.1:c.-612_-611del NP_001341545.1:n.-612_-611del
NM_001354617.1:c.-704_-703del NP_001341546.1:n.-704_-703del
NM_001354618.1:c.-936_-935del NP_001341547.1:n.-936_-935del
NM_001354619.1:c.-1060_-1059del NP_001341548.1:n.-1060_-1059del
NM_001354620.1:c.-270_-269del NP_001341549.1:n.-270_-269del
NM_001354621.1:c.-1029_-1028del NP_001341550.1:n.-1029_-1028del
NM_001354622.1:c.-1142_-1141del NP_001341551.1:n.-1142_-1141del
NM_001354623.1:c.-1051_-1050del NP_001341552.1:n.-1051_-1050del
NM_001354624.1:c.-812_-811del NP_001341553.1:n.-812_-811del
NM_001354625.1:c.-710_-709del NP_001341554.1:n.-710_-709del
NM_001354626.1:c.-807_-806del NP_001341555.1:n.-807_-806del
NM_001354627.1:c.-1039_-1038del NP_001341556.1:n.-1039_-1038del
NM_001354628.1:c.15_16del NP_001341557.1:p.Val7TyrfsTer23
NM_001354629.1:c.15_16del NP_001341558.1:p.Val7TyrfsTer23
NM_001354630.1:c.15_16del NP_001341559.1:p.Val7TyrfsTer23
XM_005265161.2:c.15_16del XP_005265218.1:p.Val7TyrfsTer23
XM_017006450.2:c.-797_-796del XP_016861939.1:n.-797_-796del
NM_000249.4:c.15_16del MANE Select NP_000240.1:p.Val7TyrfsTer23
NM_001167617.3:c.-502_-501del NP_001161089.1:n.-502_-501del
NM_001167618.3:c.-931_-930del NP_001161090.1:n.-931_-930del
NM_001167619.3:c.-844_-843del NP_001161091.1:n.-844_-843del
NM_001258271.2:c.15_16del NP_001245200.1:p.Val7TyrfsTer23
NM_001258273.2:c.-618_-617del NP_001245202.1:n.-618_-617del
NM_001258274.3:c.-1081_-1080del NP_001245203.1:n.-1081_-1080del
NM_001354615.2:c.-612_-611del NP_001341544.1:n.-612_-611del
NM_001354616.2:c.-612_-611del NP_001341545.1:n.-612_-611del
NM_001354617.2:c.-704_-703del NP_001341546.1:n.-704_-703del
NM_001354618.2:c.-936_-935del NP_001341547.1:n.-936_-935del
NM_001354619.2:c.-1060_-1059del NP_001341548.1:n.-1060_-1059del
NM_001354620.2:c.-270_-269del NP_001341549.1:n.-270_-269del
NM_001354621.2:c.-1029_-1028del NP_001341550.1:n.-1029_-1028del
NM_001354622.2:c.-1142_-1141del NP_001341551.1:n.-1142_-1141del
NM_001354623.2:c.-1051_-1050del NP_001341552.1:n.-1051_-1050del
NM_001354624.2:c.-812_-811del NP_001341553.1:n.-812_-811del
NM_001354625.2:c.-710_-709del NP_001341554.1:n.-710_-709del
NM_001354626.2:c.-807_-806del NP_001341555.1:n.-807_-806del
NM_001354627.2:c.-1039_-1038del NP_001341556.1:n.-1039_-1038del
NM_001354628.2:c.15_16del NP_001341557.1:p.Val7TyrfsTer23
NM_001354629.2:c.15_16del NP_001341558.1:p.Val7TyrfsTer23
NM_001354630.2:c.15_16del NP_001341559.1:p.Val7TyrfsTer23