Canonical Allele Identifier: CA2580069466

Gene: MLH1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37025666_37025670del , CM000665.2:g.37025666_37025670del	GRCh38
NC_000003.11:g.37067157_37067161del , CM000665.1:g.37067157_37067161del	GRCh37
NC_000003.10:g.37042161_37042165del	NCBI36
NG_007109.2:g.37317_37321del , LRG_216:g.37317_37321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1068_1072del	ENSP00000416476.2:p.Gly357AspfsTer3
ENST00000429117.6:c.774_778del	ENSP00000407019.2:p.Gly259AspfsTer3
ENST00000450420.6:c.1068_1072del	ENSP00000393006.2:p.Gly357AspfsTer3
ENST00000456676.7:c.1068_1072del	ENSP00000416687.3:p.Gly357AspfsTer3
ENST00000458009.6:c.914_918del	ENSP00000411066.2:p.Leu305GlnfsTer?
ENST00000492474.6:c.345_349del	ENSP00000518393.1:p.Gly116AspfsTer3
ENST00000616768.6:c.1068_1072del	ENSP00000480669.3:p.Gly357AspfsTer3
ENST00000673673.2:c.1068_1072del	ENSP00000500979.2:p.Gly357AspfsTer3
ENST00000231790.8:c.1068_1072del MANE Select	ENSP00000231790.3:p.Gly357AspfsTer3
ENST00000413212.2:c.97_101del	ENSP00000400844.2:p.Trp33ArgfsTer9
ENST00000432299.6:c.*900_*904del	ENSP00000416783.1:n.*900_*904del
ENST00000441265.6:c.345_349del	ENSP00000398392.2:p.Gly116AspfsTer3
ENST00000442249.6:n.876_880del
ENST00000447829.6:c.*179_*183del	ENSP00000399329.2:n.*179_*183del
ENST00000539477.6:c.345_349del	ENSP00000443665.1:p.Gly116AspfsTer3
ENST00000616768.5:c.105_109del	ENSP00000480669.2:p.Gly36AspfsTer3
ENST00000673673.1:c.1021_1025del
ENST00000673713.1:n.1192_1196del
ENST00000673715.1:c.1068_1072del	ENSP00000501301.1:p.Gly357AspfsTer3
ENST00000673889.1:n.450_454del
ENST00000673897.1:c.*860_*864del	ENSP00000501109.1:n.*860_*864del
ENST00000673899.1:c.678-3118_678-3114del	ENSP00000501030.1:n.678-3118_678-3114del
ENST00000673947.1:c.*1208_*1212del	ENSP00000501304.1:n.*1208_*1212del
ENST00000673972.1:c.*946_*950del	ENSP00000501281.1:n.*946_*950del
ENST00000673990.1:n.959_963del
ENST00000674019.1:c.345_349del	ENSP00000501081.1:p.Gly116AspfsTer3
ENST00000674107.1:n.916_920del
ENST00000674111.1:c.1068_1072del	ENSP00000501162.1:p.Gly357AspfsTer3
ENST00000231790.6:c.1068_1072del	ENSP00000231790.2:p.Gly357AspfsTer3
ENST00000413212.1:c.143_147del
ENST00000435176.5:c.774_778del	ENSP00000402564.1:p.Gly259AspfsTer3
ENST00000447829.5:c.355_359del
ENST00000455445.6:c.345_349del	ENSP00000398272.2:p.Gly116AspfsTer3
ENST00000456676.6:c.1043_1047del
ENST00000458009.5:c.255_259del
ENST00000458205.6:c.345_349del	ENSP00000402667.2:p.Gly116AspfsTer3
ENST00000536378.5:c.345_349del	ENSP00000444286.2:p.Gly116AspfsTer3
ENST00000539477.5:c.345_349del	ENSP00000443665.1:p.Gly116AspfsTer3
NM_000249.3:c.1068_1072del , LRG_216t1:c.1068_1072del	NP_000240.1:p.Gly357AspfsTer3
NM_001167617.1:c.774_778del	NP_001161089.1:p.Gly259AspfsTer3
NM_001167618.1:c.345_349del	NP_001161090.1:p.Gly116AspfsTer3
NM_001167619.1:c.345_349del	NP_001161091.1:p.Gly116AspfsTer3
NM_001258271.1:c.1068_1072del	NP_001245200.1:p.Gly357AspfsTer3
NM_001258273.1:c.345_349del	NP_001245202.1:p.Gly116AspfsTer3
NM_001258274.1:c.345_349del	NP_001245203.1:p.Gly116AspfsTer3
XM_005265161.1:c.861_865del	XP_005265218.1:p.Gly288AspfsTer3
XM_005265163.1:c.345_349del	XP_005265220.1:p.Gly116AspfsTer3
XM_005265164.1:c.345_349del	XP_005265221.1:p.Gly116AspfsTer3
XM_005265166.1:c.45_49del	XP_005265223.1:p.Gly16AspfsTer3
XM_011533727.1:c.-7_-3del	XP_011532029.1:n.-7_-3del
NM_001167617.2:c.774_778del	NP_001161089.1:p.Gly259AspfsTer3
NM_001167618.2:c.345_349del	NP_001161090.1:p.Gly116AspfsTer3
NM_001167619.2:c.345_349del	NP_001161091.1:p.Gly116AspfsTer3
NM_001258274.2:c.345_349del	NP_001245203.1:p.Gly116AspfsTer3
NM_001354615.1:c.345_349del	NP_001341544.1:p.Gly116AspfsTer3
NM_001354616.1:c.345_349del	NP_001341545.1:p.Gly116AspfsTer3
NM_001354617.1:c.345_349del	NP_001341546.1:p.Gly116AspfsTer3
NM_001354618.1:c.345_349del	NP_001341547.1:p.Gly116AspfsTer3
NM_001354619.1:c.345_349del	NP_001341548.1:p.Gly116AspfsTer3
NM_001354620.1:c.774_778del	NP_001341549.1:p.Gly259AspfsTer3
NM_001354621.1:c.45_49del	NP_001341550.1:p.Gly16AspfsTer3
NM_001354622.1:c.45_49del	NP_001341551.1:p.Gly16AspfsTer3
NM_001354623.1:c.45_49del	NP_001341552.1:p.Gly16AspfsTer3
NM_001354624.1:c.-7_-3del	NP_001341553.1:n.-7_-3del
NM_001354625.1:c.-7_-3del	NP_001341554.1:n.-7_-3del
NM_001354626.1:c.-7_-3del	NP_001341555.1:n.-7_-3del
NM_001354627.1:c.-7_-3del	NP_001341556.1:n.-7_-3del
NM_001354628.1:c.1068_1072del	NP_001341557.1:p.Gly357AspfsTer3
NM_001354629.1:c.969_973del	NP_001341558.1:p.Gly324AspfsTer3
NM_001354630.1:c.1068_1072del	NP_001341559.1:p.Gly357AspfsTer3
XM_005265161.2:c.861_865del	XP_005265218.1:p.Gly288AspfsTer3
XM_017006450.2:c.45_49del	XP_016861939.1:p.Gly16AspfsTer3
NM_000249.4:c.1068_1072del MANE Select	NP_000240.1:p.Gly357AspfsTer3
NM_001167617.3:c.774_778del	NP_001161089.1:p.Gly259AspfsTer3
NM_001167618.3:c.345_349del	NP_001161090.1:p.Gly116AspfsTer3
NM_001167619.3:c.345_349del	NP_001161091.1:p.Gly116AspfsTer3
NM_001258271.2:c.1068_1072del	NP_001245200.1:p.Gly357AspfsTer3
NM_001258273.2:c.345_349del	NP_001245202.1:p.Gly116AspfsTer3
NM_001258274.3:c.345_349del	NP_001245203.1:p.Gly116AspfsTer3
NM_001354615.2:c.345_349del	NP_001341544.1:p.Gly116AspfsTer3
NM_001354616.2:c.345_349del	NP_001341545.1:p.Gly116AspfsTer3
NM_001354617.2:c.345_349del	NP_001341546.1:p.Gly116AspfsTer3
NM_001354618.2:c.345_349del	NP_001341547.1:p.Gly116AspfsTer3
NM_001354619.2:c.345_349del	NP_001341548.1:p.Gly116AspfsTer3
NM_001354620.2:c.774_778del	NP_001341549.1:p.Gly259AspfsTer3
NM_001354621.2:c.45_49del	NP_001341550.1:p.Gly16AspfsTer3
NM_001354622.2:c.45_49del	NP_001341551.1:p.Gly16AspfsTer3
NM_001354623.2:c.45_49del	NP_001341552.1:p.Gly16AspfsTer3
NM_001354624.2:c.-7_-3del	NP_001341553.1:n.-7_-3del
NM_001354625.2:c.-7_-3del	NP_001341554.1:n.-7_-3del
NM_001354626.2:c.-7_-3del	NP_001341555.1:n.-7_-3del
NM_001354627.2:c.-7_-3del	NP_001341556.1:n.-7_-3del
NM_001354628.2:c.1068_1072del	NP_001341557.1:p.Gly357AspfsTer3
NM_001354629.2:c.969_973del	NP_001341558.1:p.Gly324AspfsTer3
NM_001354630.2:c.1068_1072del	NP_001341559.1:p.Gly357AspfsTer3