Canonical Allele Identifier: CA1357880394

Gene: MLH1

Linked Data

• ClinVar Variation Id: 973395
• ClinVar RCV Id: RCV001249933 ; RCV003449806
• dbSNP Id: rs2083425688

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37025839_37025840del , CM000665.2:g.37025839_37025840del	GRCh38
NC_000003.11:g.37067330_37067331del , CM000665.1:g.37067330_37067331del	GRCh37
NC_000003.10:g.37042334_37042335del	NCBI36
NG_007109.2:g.37490_37491del , LRG_216:g.37490_37491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1241_1242del	ENSP00000416476.2:p.Glu414GlyfsTer2
ENST00000429117.6:c.947_948del	ENSP00000407019.2:p.Glu316GlyfsTer2
ENST00000450420.6:c.1241_1242del	ENSP00000393006.2:p.Glu414GlyfsTer2
ENST00000456676.7:c.1241_1242del	ENSP00000416687.3:p.Glu414GlyfsTer2
ENST00000458009.6:c.*142_*143del	ENSP00000411066.2:n.*142_*143del
ENST00000492474.6:c.518_519del	ENSP00000518393.1:p.Glu173GlyfsTer2
ENST00000616768.6:c.1241_1242del	ENSP00000480669.3:p.Glu414GlyfsTer2
ENST00000673673.2:c.1241_1242del	ENSP00000500979.2:p.Glu414GlyfsTer2
ENST00000231790.8:c.1241_1242del MANE Select	ENSP00000231790.3:p.Glu414GlyfsTer2
ENST00000413212.2:c.*159_*160del	ENSP00000400844.2:n.*159_*160del
ENST00000432299.6:c.*1073_*1074del	ENSP00000416783.1:n.*1073_*1074del
ENST00000441265.6:c.518_519del	ENSP00000398392.2:p.Glu173GlyfsTer2
ENST00000442249.6:n.1049_1050del
ENST00000447829.6:c.*352_*353del	ENSP00000399329.2:n.*352_*353del
ENST00000539477.6:c.518_519del	ENSP00000443665.1:p.Glu173GlyfsTer2
ENST00000616768.5:c.278_279del	ENSP00000480669.2:p.Glu93GlyfsTer2
ENST00000673673.1:c.1194_1195del
ENST00000673713.1:n.1365_1366del
ENST00000673715.1:c.1241_1242del	ENSP00000501301.1:p.Glu414GlyfsTer2
ENST00000673889.1:n.623_624del
ENST00000673897.1:c.*1033_*1034del	ENSP00000501109.1:n.*1033_*1034del
ENST00000673899.1:c.678-2945_678-2944del	ENSP00000501030.1:n.678-2945_678-2944del
ENST00000673947.1:c.*1381_*1382del	ENSP00000501304.1:n.*1381_*1382del
ENST00000673972.1:c.*1119_*1120del	ENSP00000501281.1:n.*1119_*1120del
ENST00000673990.1:n.1132_1133del
ENST00000674019.1:c.518_519del	ENSP00000501081.1:p.Glu173GlyfsTer2
ENST00000674107.1:n.1089_1090del
ENST00000674111.1:c.1241_1242del	ENSP00000501162.1:p.Glu414GlyfsTer2
ENST00000231790.6:c.1241_1242del	ENSP00000231790.2:p.Glu414GlyfsTer2
ENST00000413212.1:c.316_317del
ENST00000435176.5:c.947_948del	ENSP00000402564.1:p.Glu316GlyfsTer2
ENST00000447829.5:c.528_529del
ENST00000455445.6:c.518_519del	ENSP00000398272.2:p.Glu173GlyfsTer2
ENST00000456676.6:c.1216_1217del
ENST00000458009.5:c.428_429del
ENST00000458205.6:c.518_519del	ENSP00000402667.2:p.Glu173GlyfsTer2
ENST00000536378.5:c.518_519del	ENSP00000444286.2:p.Glu173GlyfsTer2
ENST00000539477.5:c.518_519del	ENSP00000443665.1:p.Glu173GlyfsTer2
ENST00000616768.4:c.9_10del
NM_000249.3:c.1241_1242del , LRG_216t1:c.1241_1242del	NP_000240.1:p.Glu414GlyfsTer2
NM_001167617.1:c.947_948del	NP_001161089.1:p.Glu316GlyfsTer2
NM_001167618.1:c.518_519del	NP_001161090.1:p.Glu173GlyfsTer2
NM_001167619.1:c.518_519del	NP_001161091.1:p.Glu173GlyfsTer2
NM_001258271.1:c.1241_1242del	NP_001245200.1:p.Glu414GlyfsTer2
NM_001258273.1:c.518_519del	NP_001245202.1:p.Glu173GlyfsTer2
NM_001258274.1:c.518_519del	NP_001245203.1:p.Glu173GlyfsTer2
XM_005265161.1:c.1034_1035del	XP_005265218.1:p.Glu345GlyfsTer2
XM_005265163.1:c.518_519del	XP_005265220.1:p.Glu173GlyfsTer2
XM_005265164.1:c.518_519del	XP_005265221.1:p.Glu173GlyfsTer2
XM_005265166.1:c.218_219del	XP_005265223.1:p.Glu73GlyfsTer2
XM_011533727.1:c.167_168del	XP_011532029.1:p.Glu56GlyfsTer2
NM_001167617.2:c.947_948del	NP_001161089.1:p.Glu316GlyfsTer2
NM_001167618.2:c.518_519del	NP_001161090.1:p.Glu173GlyfsTer2
NM_001167619.2:c.518_519del	NP_001161091.1:p.Glu173GlyfsTer2
NM_001258274.2:c.518_519del	NP_001245203.1:p.Glu173GlyfsTer2
NM_001354615.1:c.518_519del	NP_001341544.1:p.Glu173GlyfsTer2
NM_001354616.1:c.518_519del	NP_001341545.1:p.Glu173GlyfsTer2
NM_001354617.1:c.518_519del	NP_001341546.1:p.Glu173GlyfsTer2
NM_001354618.1:c.518_519del	NP_001341547.1:p.Glu173GlyfsTer2
NM_001354619.1:c.518_519del	NP_001341548.1:p.Glu173GlyfsTer2
NM_001354620.1:c.947_948del	NP_001341549.1:p.Glu316GlyfsTer2
NM_001354621.1:c.218_219del	NP_001341550.1:p.Glu73GlyfsTer2
NM_001354622.1:c.218_219del	NP_001341551.1:p.Glu73GlyfsTer2
NM_001354623.1:c.218_219del	NP_001341552.1:p.Glu73GlyfsTer2
NM_001354624.1:c.167_168del	NP_001341553.1:p.Glu56GlyfsTer2
NM_001354625.1:c.167_168del	NP_001341554.1:p.Glu56GlyfsTer2
NM_001354626.1:c.167_168del	NP_001341555.1:p.Glu56GlyfsTer2
NM_001354627.1:c.167_168del	NP_001341556.1:p.Glu56GlyfsTer2
NM_001354628.1:c.1241_1242del	NP_001341557.1:p.Glu414GlyfsTer2
NM_001354629.1:c.1142_1143del	NP_001341558.1:p.Glu381GlyfsTer2
NM_001354630.1:c.1241_1242del	NP_001341559.1:p.Glu414GlyfsTer2
XM_005265161.2:c.1034_1035del	XP_005265218.1:p.Glu345GlyfsTer2
XM_017006450.2:c.218_219del	XP_016861939.1:p.Glu73GlyfsTer2
NM_000249.4:c.1241_1242del MANE Select	NP_000240.1:p.Glu414GlyfsTer2
NM_001167617.3:c.947_948del	NP_001161089.1:p.Glu316GlyfsTer2
NM_001167618.3:c.518_519del	NP_001161090.1:p.Glu173GlyfsTer2
NM_001167619.3:c.518_519del	NP_001161091.1:p.Glu173GlyfsTer2
NM_001258271.2:c.1241_1242del	NP_001245200.1:p.Glu414GlyfsTer2
NM_001258273.2:c.518_519del	NP_001245202.1:p.Glu173GlyfsTer2
NM_001258274.3:c.518_519del	NP_001245203.1:p.Glu173GlyfsTer2
NM_001354615.2:c.518_519del	NP_001341544.1:p.Glu173GlyfsTer2
NM_001354616.2:c.518_519del	NP_001341545.1:p.Glu173GlyfsTer2
NM_001354617.2:c.518_519del	NP_001341546.1:p.Glu173GlyfsTer2
NM_001354618.2:c.518_519del	NP_001341547.1:p.Glu173GlyfsTer2
NM_001354619.2:c.518_519del	NP_001341548.1:p.Glu173GlyfsTer2
NM_001354620.2:c.947_948del	NP_001341549.1:p.Glu316GlyfsTer2
NM_001354621.2:c.218_219del	NP_001341550.1:p.Glu73GlyfsTer2
NM_001354622.2:c.218_219del	NP_001341551.1:p.Glu73GlyfsTer2
NM_001354623.2:c.218_219del	NP_001341552.1:p.Glu73GlyfsTer2
NM_001354624.2:c.167_168del	NP_001341553.1:p.Glu56GlyfsTer2
NM_001354625.2:c.167_168del	NP_001341554.1:p.Glu56GlyfsTer2
NM_001354626.2:c.167_168del	NP_001341555.1:p.Glu56GlyfsTer2
NM_001354627.2:c.167_168del	NP_001341556.1:p.Glu56GlyfsTer2
NM_001354628.2:c.1241_1242del	NP_001341557.1:p.Glu414GlyfsTer2
NM_001354629.2:c.1142_1143del	NP_001341558.1:p.Glu381GlyfsTer2
NM_001354630.2:c.1241_1242del	NP_001341559.1:p.Glu414GlyfsTer2