Canonical Allele Identifier: CA2825001203

Gene: MLH1

Linked Data

• ClinVar Variation Id: 3230780
• ClinVar RCV Id: RCV004522895

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37001034_37001035del , CM000665.2:g.37001034_37001035del	GRCh38
NC_000003.11:g.37042525_37042526del , CM000665.1:g.37042525_37042526del	GRCh37
NC_000003.10:g.37017529_37017530del	NCBI36
NG_007109.2:g.12685_12686del , LRG_216:g.12685_12686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.287_288del	ENSP00000416476.2:p.Thr96IlefsTer6
ENST00000429117.6:c.-3_-2del	ENSP00000407019.2:n.-3_-2del
ENST00000450420.6:c.287_288del	ENSP00000393006.2:p.Thr96IlefsTer6
ENST00000456676.7:c.287_288del	ENSP00000416687.3:p.Thr96IlefsTer6
ENST00000458009.6:c.287_288del	ENSP00000411066.2:p.Thr96IlefsTer6
ENST00000492474.6:c.-437_-436del	ENSP00000518393.1:n.-437_-436del
ENST00000616768.6:c.287_288del	ENSP00000480669.3:p.Thr96IlefsTer6
ENST00000673673.2:c.287_288del	ENSP00000500979.2:p.Thr96IlefsTer6
ENST00000231790.8:c.287_288del MANE Select	ENSP00000231790.3:p.Thr96IlefsTer6
ENST00000413212.2:c.-437_-436del	ENSP00000400844.2:n.-437_-436del
ENST00000432299.6:c.*367_*368del	ENSP00000416783.1:n.*367_*368del
ENST00000441265.6:c.-437_-436del	ENSP00000398392.2:n.-437_-436del
ENST00000442249.6:n.302_303del
ENST00000447829.6:c.-3_-2del	ENSP00000399329.2:n.-3_-2del
ENST00000539477.6:c.-345_-344del	ENSP00000443665.1:n.-345_-344del
ENST00000673673.1:c.240_241del
ENST00000673713.1:n.318_319del
ENST00000673715.1:c.287_288del	ENSP00000501301.1:p.Thr96IlefsTer6
ENST00000673897.1:c.*79_*80del	ENSP00000501109.1:n.*79_*80del
ENST00000673899.1:c.287_288del	ENSP00000501030.1:p.Thr96IlefsTer6
ENST00000673947.1:c.*427_*428del	ENSP00000501304.1:n.*427_*428del
ENST00000673972.1:c.*165_*166del	ENSP00000501281.1:n.*165_*166del
ENST00000673990.1:n.272_273del
ENST00000674019.1:c.-437_-436del	ENSP00000501081.1:n.-437_-436del
ENST00000674107.1:n.229_230del
ENST00000674111.1:c.287_288del	ENSP00000501162.1:p.Thr96IlefsTer6
ENST00000231790.6:c.287_288del	ENSP00000231790.2:p.Thr96IlefsTer6
ENST00000429117.5:c.-3_-2del	ENSP00000407019.1:n.-3_-2del
ENST00000432299.5:c.*367_*368del	ENSP00000416783.1:n.*367_*368del
ENST00000435176.5:c.-3_-2del	ENSP00000402564.1:n.-3_-2del
ENST00000441265.5:c.-345_-344del	ENSP00000398392.1:n.-345_-344del
ENST00000442249.5:c.*79_*80del	ENSP00000387511.1:n.*79_*80del
ENST00000454028.5:c.*165_*166del	ENSP00000392649.1:n.*165_*166del
ENST00000455445.6:c.-437_-436del	ENSP00000398272.2:n.-437_-436del
ENST00000456676.6:c.262_263del
ENST00000457004.5:c.*86-3367_*86-3366del	ENSP00000407773.1:n.*86-3367_*86-3366del
ENST00000458205.6:c.-437_-436del	ENSP00000402667.2:n.-437_-436del
ENST00000466900.5:n.214_215del
ENST00000476172.5:n.409_410del
ENST00000485889.1:n.291_292del
ENST00000492474.5:n.310_311del
ENST00000536378.5:c.-437_-436del	ENSP00000444286.2:n.-437_-436del
ENST00000539477.5:c.-345_-344del	ENSP00000443665.1:n.-345_-344del
NM_000249.3:c.287_288del , LRG_216t1:c.287_288del	NP_000240.1:p.Thr96IlefsTer6
NM_001167617.1:c.-3_-2del	NP_001161089.1:n.-3_-2del
NM_001167618.1:c.-437_-436del	NP_001161090.1:n.-437_-436del
NM_001167619.1:c.-345_-344del	NP_001161091.1:n.-345_-344del
NM_001258271.1:c.287_288del	NP_001245200.1:p.Thr96IlefsTer6
NM_001258273.1:c.-437_-436del	NP_001245202.1:n.-437_-436del
NM_001258274.1:c.-437_-436del	NP_001245203.1:n.-437_-436del
XM_005265161.1:c.287_288del	XP_005265218.1:p.Thr96IlefsTer6
XM_005265163.1:c.-437_-436del	XP_005265220.1:n.-437_-436del
XM_005265164.1:c.-437_-436del	XP_005265221.1:n.-437_-436del
XM_005265166.1:c.-643_-642del	XP_005265223.1:n.-643_-642del
XM_011533727.1:c.-540_-539del	XP_011532029.1:n.-540_-539del
NM_001167617.2:c.-3_-2del	NP_001161089.1:n.-3_-2del
NM_001167618.2:c.-437_-436del	NP_001161090.1:n.-437_-436del
NM_001167619.2:c.-345_-344del	NP_001161091.1:n.-345_-344del
NM_001258274.2:c.-437_-436del	NP_001245203.1:n.-437_-436del
NM_001354615.1:c.-340_-339del	NP_001341544.1:n.-340_-339del
NM_001354616.1:c.-345_-344del	NP_001341545.1:n.-345_-344del
NM_001354617.1:c.-437_-436del	NP_001341546.1:n.-437_-436del
NM_001354618.1:c.-437_-436del	NP_001341547.1:n.-437_-436del
NM_001354619.1:c.-437_-436del	NP_001341548.1:n.-437_-436del
NM_001354620.1:c.-3_-2del	NP_001341549.1:n.-3_-2del
NM_001354621.1:c.-530_-529del	NP_001341550.1:n.-530_-529del
NM_001354622.1:c.-643_-642del	NP_001341551.1:n.-643_-642del
NM_001354623.1:c.-643_-642del	NP_001341552.1:n.-643_-642del
NM_001354624.1:c.-540_-539del	NP_001341553.1:n.-540_-539del
NM_001354625.1:c.-443_-442del	NP_001341554.1:n.-443_-442del
NM_001354626.1:c.-540_-539del	NP_001341555.1:n.-540_-539del
NM_001354627.1:c.-540_-539del	NP_001341556.1:n.-540_-539del
NM_001354628.1:c.287_288del	NP_001341557.1:p.Thr96IlefsTer6
NM_001354629.1:c.208-3367_208-3366del	NP_001341558.1:n.208-3367_208-3366del
NM_001354630.1:c.287_288del	NP_001341559.1:p.Thr96IlefsTer6
XM_005265161.2:c.287_288del	XP_005265218.1:p.Thr96IlefsTer6
XM_017006450.2:c.-530_-529del	XP_016861939.1:n.-530_-529del
NM_000249.4:c.287_288del MANE Select	NP_000240.1:p.Thr96IlefsTer6
NM_001167617.3:c.-3_-2del	NP_001161089.1:n.-3_-2del
NM_001167618.3:c.-437_-436del	NP_001161090.1:n.-437_-436del
NM_001167619.3:c.-345_-344del	NP_001161091.1:n.-345_-344del
NM_001258271.2:c.287_288del	NP_001245200.1:p.Thr96IlefsTer6
NM_001258273.2:c.-437_-436del	NP_001245202.1:n.-437_-436del
NM_001258274.3:c.-437_-436del	NP_001245203.1:n.-437_-436del
NM_001354615.2:c.-340_-339del	NP_001341544.1:n.-340_-339del
NM_001354616.2:c.-345_-344del	NP_001341545.1:n.-345_-344del
NM_001354617.2:c.-437_-436del	NP_001341546.1:n.-437_-436del
NM_001354618.2:c.-437_-436del	NP_001341547.1:n.-437_-436del
NM_001354619.2:c.-437_-436del	NP_001341548.1:n.-437_-436del
NM_001354620.2:c.-3_-2del	NP_001341549.1:n.-3_-2del
NM_001354621.2:c.-530_-529del	NP_001341550.1:n.-530_-529del
NM_001354622.2:c.-643_-642del	NP_001341551.1:n.-643_-642del
NM_001354623.2:c.-643_-642del	NP_001341552.1:n.-643_-642del
NM_001354624.2:c.-540_-539del	NP_001341553.1:n.-540_-539del
NM_001354625.2:c.-443_-442del	NP_001341554.1:n.-443_-442del
NM_001354626.2:c.-540_-539del	NP_001341555.1:n.-540_-539del
NM_001354627.2:c.-540_-539del	NP_001341556.1:n.-540_-539del
NM_001354628.2:c.287_288del	NP_001341557.1:p.Thr96IlefsTer6
NM_001354629.2:c.208-3367_208-3366del	NP_001341558.1:n.208-3367_208-3366del
NM_001354630.2:c.287_288del	NP_001341559.1:p.Thr96IlefsTer6