Canonical Allele Identifier: CA1357880408

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37025854_37025871delinsTTTCTAGTGGCAGGGCTA , CM000665.2:g.37025854_37025871delinsTTTCTAGTGGCAGGGCTA	GRCh38
NC_000003.11:g.37067345_37067362delinsTTTCTAGTGGCAGGGCTA , CM000665.1:g.37067345_37067362delinsTTTCTAGTGGCAGGGCTA	GRCh37
NC_000003.10:g.37042349_37042366delinsTTTCTAGTGGCAGGGCTA	NCBI36
NG_007109.2:g.37505_37522delinsTTTCTAGTGGCAGGGCTA , LRG_216:g.37505_37522delinsTTTCTAGTGGCAGGGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	ENSP00000416476.2:p.Ile419=
ENST00000429117.6:c.962_979delinsTTTCTAGTGGCAGGGCTA	ENSP00000407019.2:p.Ile321=
ENST00000450420.6:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	ENSP00000393006.2:p.Ile419=
ENST00000456676.7:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	ENSP00000416687.3:p.Ile419=
ENST00000458009.6:c.*157_*174delinsTTTCTAGTGGCAGGGCTA	ENSP00000411066.2:n.*157_*174delinsTTTCTAGTGGCAGGGCTA
ENST00000492474.6:c.533_550delinsTTTCTAGTGGCAGGGCTA	ENSP00000518393.1:p.Ile178=
ENST00000616768.6:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	ENSP00000480669.3:p.Ile419=
ENST00000673673.2:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	ENSP00000500979.2:p.Ile419=
ENST00000231790.8:c.1256_1273delinsTTTCTAGTGGCAGGGCTA MANE Select	ENSP00000231790.3:p.Ile419=
ENST00000413212.2:c.*174_*191delinsTTTCTAGTGGCAGGGCTA	ENSP00000400844.2:n.*174_*191delinsTTTCTAGTGGCAGGGCTA
ENST00000432299.6:c.*1088_*1105delinsTTTCTAGTGGCAGGGCTA	ENSP00000416783.1:n.*1088_*1105delinsTTTCTAGTGGCAGGGCTA
ENST00000441265.6:c.533_550delinsTTTCTAGTGGCAGGGCTA	ENSP00000398392.2:p.Ile178=
ENST00000442249.6:n.1064_1081delinsTTTCTAGTGGCAGGGCTA
ENST00000447829.6:c.*367_*384delinsTTTCTAGTGGCAGGGCTA	ENSP00000399329.2:n.*367_*384delinsTTTCTAGTGGCAGGGCTA
ENST00000539477.6:c.533_550delinsTTTCTAGTGGCAGGGCTA	ENSP00000443665.1:p.Ile178=
ENST00000616768.5:c.293_310delinsTTTCTAGTGGCAGGGCTA	ENSP00000480669.2:p.Ile98=
ENST00000673673.1:c.1209_1226delinsTTTCTAGTGGCAGGGCTA
ENST00000673713.1:n.1380_1397delinsTTTCTAGTGGCAGGGCTA
ENST00000673715.1:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	ENSP00000501301.1:p.Ile419=
ENST00000673889.1:n.638_655delinsTTTCTAGTGGCAGGGCTA
ENST00000673897.1:c.*1048_*1065delinsTTTCTAGTGGCAGGGCTA	ENSP00000501109.1:n.*1048_*1065delinsTTTCTAGTGGCAGGGCTA
ENST00000673899.1:c.678-2930_678-2913delinsTTTCTAGTGGCAGGGCTA	ENSP00000501030.1:n.678-2930_678-2913delinsTTTCTAGTGGCAGGGCTA...
ENST00000673947.1:c.*1396_*1413delinsTTTCTAGTGGCAGGGCTA	ENSP00000501304.1:n.*1396_*1413delinsTTTCTAGTGGCAGGGCTA
ENST00000673972.1:c.*1134_*1151delinsTTTCTAGTGGCAGGGCTA	ENSP00000501281.1:n.*1134_*1151delinsTTTCTAGTGGCAGGGCTA
ENST00000673990.1:n.1147_1164delinsTTTCTAGTGGCAGGGCTA
ENST00000674019.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	ENSP00000501081.1:p.Ile178=
ENST00000674107.1:n.1104_1121delinsTTTCTAGTGGCAGGGCTA
ENST00000674111.1:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	ENSP00000501162.1:p.Ile419=
ENST00000231790.6:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	ENSP00000231790.2:p.Ile419=
ENST00000413212.1:c.331_348delinsTTTCTAGTGGCAGGGCTA
ENST00000435176.5:c.962_979delinsTTTCTAGTGGCAGGGCTA	ENSP00000402564.1:p.Ile321=
ENST00000447829.5:c.543_560delinsTTTCTAGTGGCAGGGCTA
ENST00000455445.6:c.533_550delinsTTTCTAGTGGCAGGGCTA	ENSP00000398272.2:p.Ile178=
ENST00000456676.6:c.1231_1248delinsTTTCTAGTGGCAGGGCTA
ENST00000458009.5:c.443_460delinsTTTCTAGTGGCAGGGCTA
ENST00000458205.6:c.533_550delinsTTTCTAGTGGCAGGGCTA	ENSP00000402667.2:p.Ile178=
ENST00000536378.5:c.533_550delinsTTTCTAGTGGCAGGGCTA	ENSP00000444286.2:p.Ile178=
ENST00000539477.5:c.533_550delinsTTTCTAGTGGCAGGGCTA	ENSP00000443665.1:p.Ile178=
ENST00000616768.4:c.24_41delinsTTTCTAGTGGCAGGGCTA
NM_000249.3:c.1256_1273delinsTTTCTAGTGGCAGGGCTA , LRG_216t1:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	NP_000240.1:p.Ile419=
NM_001167617.1:c.962_979delinsTTTCTAGTGGCAGGGCTA	NP_001161089.1:p.Ile321=
NM_001167618.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001161090.1:p.Ile178=
NM_001167619.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001161091.1:p.Ile178=
NM_001258271.1:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	NP_001245200.1:p.Ile419=
NM_001258273.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001245202.1:p.Ile178=
NM_001258274.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001245203.1:p.Ile178=
XM_005265161.1:c.1049_1066delinsTTTCTAGTGGCAGGGCTA	XP_005265218.1:p.Ile350=
XM_005265163.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	XP_005265220.1:p.Ile178=
XM_005265164.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	XP_005265221.1:p.Ile178=
XM_005265166.1:c.233_250delinsTTTCTAGTGGCAGGGCTA	XP_005265223.1:p.Ile78=
XM_011533727.1:c.182_199delinsTTTCTAGTGGCAGGGCTA	XP_011532029.1:p.Ile61=
NM_001167617.2:c.962_979delinsTTTCTAGTGGCAGGGCTA	NP_001161089.1:p.Ile321=
NM_001167618.2:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001161090.1:p.Ile178=
NM_001167619.2:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001161091.1:p.Ile178=
NM_001258274.2:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001245203.1:p.Ile178=
NM_001354615.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341544.1:p.Ile178=
NM_001354616.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341545.1:p.Ile178=
NM_001354617.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341546.1:p.Ile178=
NM_001354618.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341547.1:p.Ile178=
NM_001354619.1:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341548.1:p.Ile178=
NM_001354620.1:c.962_979delinsTTTCTAGTGGCAGGGCTA	NP_001341549.1:p.Ile321=
NM_001354621.1:c.233_250delinsTTTCTAGTGGCAGGGCTA	NP_001341550.1:p.Ile78=
NM_001354622.1:c.233_250delinsTTTCTAGTGGCAGGGCTA	NP_001341551.1:p.Ile78=
NM_001354623.1:c.233_250delinsTTTCTAGTGGCAGGGCTA	NP_001341552.1:p.Ile78=
NM_001354624.1:c.182_199delinsTTTCTAGTGGCAGGGCTA	NP_001341553.1:p.Ile61=
NM_001354625.1:c.182_199delinsTTTCTAGTGGCAGGGCTA	NP_001341554.1:p.Ile61=
NM_001354626.1:c.182_199delinsTTTCTAGTGGCAGGGCTA	NP_001341555.1:p.Ile61=
NM_001354627.1:c.182_199delinsTTTCTAGTGGCAGGGCTA	NP_001341556.1:p.Ile61=
NM_001354628.1:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	NP_001341557.1:p.Ile419=
NM_001354629.1:c.1157_1174delinsTTTCTAGTGGCAGGGCTA	NP_001341558.1:p.Ile386=
NM_001354630.1:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	NP_001341559.1:p.Ile419=
XM_005265161.2:c.1049_1066delinsTTTCTAGTGGCAGGGCTA	XP_005265218.1:p.Ile350=
XM_017006450.2:c.233_250delinsTTTCTAGTGGCAGGGCTA	XP_016861939.1:p.Ile78=
NM_000249.4:c.1256_1273delinsTTTCTAGTGGCAGGGCTA MANE Select	NP_000240.1:p.Ile419=
NM_001167617.3:c.962_979delinsTTTCTAGTGGCAGGGCTA	NP_001161089.1:p.Ile321=
NM_001167618.3:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001161090.1:p.Ile178=
NM_001167619.3:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001161091.1:p.Ile178=
NM_001258271.2:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	NP_001245200.1:p.Ile419=
NM_001258273.2:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001245202.1:p.Ile178=
NM_001258274.3:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001245203.1:p.Ile178=
NM_001354615.2:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341544.1:p.Ile178=
NM_001354616.2:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341545.1:p.Ile178=
NM_001354617.2:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341546.1:p.Ile178=
NM_001354618.2:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341547.1:p.Ile178=
NM_001354619.2:c.533_550delinsTTTCTAGTGGCAGGGCTA	NP_001341548.1:p.Ile178=
NM_001354620.2:c.962_979delinsTTTCTAGTGGCAGGGCTA	NP_001341549.1:p.Ile321=
NM_001354621.2:c.233_250delinsTTTCTAGTGGCAGGGCTA	NP_001341550.1:p.Ile78=
NM_001354622.2:c.233_250delinsTTTCTAGTGGCAGGGCTA	NP_001341551.1:p.Ile78=
NM_001354623.2:c.233_250delinsTTTCTAGTGGCAGGGCTA	NP_001341552.1:p.Ile78=
NM_001354624.2:c.182_199delinsTTTCTAGTGGCAGGGCTA	NP_001341553.1:p.Ile61=
NM_001354625.2:c.182_199delinsTTTCTAGTGGCAGGGCTA	NP_001341554.1:p.Ile61=
NM_001354626.2:c.182_199delinsTTTCTAGTGGCAGGGCTA	NP_001341555.1:p.Ile61=
NM_001354627.2:c.182_199delinsTTTCTAGTGGCAGGGCTA	NP_001341556.1:p.Ile61=
NM_001354628.2:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	NP_001341557.1:p.Ile419=
NM_001354629.2:c.1157_1174delinsTTTCTAGTGGCAGGGCTA	NP_001341558.1:p.Ile386=
NM_001354630.2:c.1256_1273delinsTTTCTAGTGGCAGGGCTA	NP_001341559.1:p.Ile419=