Canonical Allele Identifier: CA16611415
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 405395
ClinVar RCV Id: RCV000473572
dbSNP Id: rs1060500692

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37025670_37025676del , CM000665.2:g.37025670_37025676del GRCh38
NC_000003.11:g.37067161_37067167del , CM000665.1:g.37067161_37067167del GRCh37
NC_000003.10:g.37042165_37042171del NCBI36
NG_007109.2:g.37321_37327del , LRG_216:g.37321_37327del

Transcript Alleles

HGVS Amino-acid change
ENST00000231790.8:c.1072_1078del MANE Select ENSP00000231790.3:p.Glu358LeufsTer7
ENST00000413212.2:c.101_107del ENSP00000400844.2:p.Gly34ValfsTer?
ENST00000432299.6:c.*904_*910del ENSP00000416783.1:p.=
ENST00000441265.6:c.349_355del ENSP00000398392.2:p.Glu117LeufsTer7
ENST00000442249.6:n.880_886del
ENST00000447829.6:c.*183_*189del ENSP00000399329.2:p.=
ENST00000539477.6:c.349_355del ENSP00000443665.1:p.Glu117LeufsTer7
ENST00000616768.5:n.109_115del ENSP00000480669.2:p.Glu37LeufsTer7
ENST00000673673.1:n.1025_1031del
ENST00000673713.1:n.1196_1202del
ENST00000673715.1:c.1072_1078del ENSP00000501301.1:p.Glu358LeufsTer7
ENST00000673889.1:n.454_460del
ENST00000673897.1:c.*864_*870del ENSP00000501109.1:p.=
ENST00000673899.1:c.678-3114_678-3108del ENSP00000501030.1:p.=
ENST00000673947.1:c.*1212_*1218del ENSP00000501304.1:p.=
ENST00000673972.1:c.*950_*956del ENSP00000501281.1:p.=
ENST00000673990.1:n.963_969del
ENST00000674019.1:c.349_355del ENSP00000501081.1:p.Glu117LeufsTer7
ENST00000674107.1:n.920_926del
ENST00000674111.1:c.1072_1078del ENSP00000501162.1:p.Glu358LeufsTer7
ENST00000231790.6:c.1072_1078del ENSP00000231790.2:p.Glu358LeufsTer7
ENST00000413212.1:n.147_153del
ENST00000435176.5:c.778_784del ENSP00000402564.1:p.Glu260LeufsTer7
ENST00000447829.5:n.359_365del
ENST00000455445.6:c.349_355del ENSP00000398272.2:p.Glu117LeufsTer7
ENST00000456676.6:n.1047_1053del
ENST00000458009.5:n.259_265del
ENST00000458205.6:c.349_355del ENSP00000402667.2:p.Glu117LeufsTer7
ENST00000536378.5:c.349_355del ENSP00000444286.2:p.Glu117LeufsTer7
ENST00000539477.5:c.349_355del ENSP00000443665.1:p.Glu117LeufsTer7
NM_000249.3:c.1072_1078del , LRG_216t1:c.1072_1078del NP_000240.1:p.Glu358LeufsTer7
NM_001167617.1:c.778_784del NP_001161089.1:p.Glu260LeufsTer7
NM_001167618.1:c.349_355del NP_001161090.1:p.Glu117LeufsTer7
NM_001167619.1:c.349_355del NP_001161091.1:p.Glu117LeufsTer7
NM_001258271.1:c.1072_1078del NP_001245200.1:p.Glu358LeufsTer7
NM_001258273.1:c.349_355del NP_001245202.1:p.Glu117LeufsTer7
NM_001258274.1:c.349_355del NP_001245203.1:p.Glu117LeufsTer7
XM_005265161.1:c.865_871del XP_005265218.1:p.Glu289LeufsTer7
XM_005265163.1:c.349_355del XP_005265220.1:p.Glu117LeufsTer7
XM_005265164.1:c.349_355del XP_005265221.1:p.Glu117LeufsTer7
XM_005265166.1:c.49_55del XP_005265223.1:p.Glu17LeufsTer7
XM_011533727.1:c.-3_4del
NM_001167617.2:c.778_784del NP_001161089.1:p.Glu260LeufsTer7
NM_001167618.2:c.349_355del NP_001161090.1:p.Glu117LeufsTer7
NM_001167619.2:c.349_355del NP_001161091.1:p.Glu117LeufsTer7
NM_001258274.2:c.349_355del NP_001245203.1:p.Glu117LeufsTer7
NM_001354615.1:c.349_355del NP_001341544.1:p.Glu117LeufsTer7
NM_001354616.1:c.349_355del NP_001341545.1:p.Glu117LeufsTer7
NM_001354617.1:c.349_355del NP_001341546.1:p.Glu117LeufsTer7
NM_001354618.1:c.349_355del NP_001341547.1:p.Glu117LeufsTer7
NM_001354619.1:c.349_355del NP_001341548.1:p.Glu117LeufsTer7
NM_001354620.1:c.778_784del NP_001341549.1:p.Glu260LeufsTer7
NM_001354621.1:c.49_55del NP_001341550.1:p.Glu17LeufsTer7
NM_001354622.1:c.49_55del NP_001341551.1:p.Glu17LeufsTer7
NM_001354623.1:c.49_55del NP_001341552.1:p.Glu17LeufsTer7
NM_001354624.1:c.-3_4del
NM_001354625.1:c.-3_4del
NM_001354626.1:c.-3_4del
NM_001354627.1:c.-3_4del
NM_001354628.1:c.1072_1078del NP_001341557.1:p.Glu358LeufsTer7
NM_001354629.1:c.973_979del NP_001341558.1:p.Glu325LeufsTer7
NM_001354630.1:c.1072_1078del NP_001341559.1:p.Glu358LeufsTer7
XM_005265161.2:c.865_871del XP_005265218.1:p.Glu289LeufsTer7
XM_017006450.2:c.49_55del XP_016861939.1:p.Glu17LeufsTer7
NM_000249.4:c.1072_1078del MANE Select NP_000240.1:p.Glu358LeufsTer7
NM_001167617.3:c.778_784del NP_001161089.1:p.Glu260LeufsTer7
NM_001167618.3:c.349_355del NP_001161090.1:p.Glu117LeufsTer7
NM_001167619.3:c.349_355del NP_001161091.1:p.Glu117LeufsTer7
NM_001258271.2:c.1072_1078del NP_001245200.1:p.Glu358LeufsTer7
NM_001258273.2:c.349_355del NP_001245202.1:p.Glu117LeufsTer7
NM_001258274.3:c.349_355del NP_001245203.1:p.Glu117LeufsTer7
NM_001354615.2:c.349_355del NP_001341544.1:p.Glu117LeufsTer7
NM_001354616.2:c.349_355del NP_001341545.1:p.Glu117LeufsTer7
NM_001354617.2:c.349_355del NP_001341546.1:p.Glu117LeufsTer7
NM_001354618.2:c.349_355del NP_001341547.1:p.Glu117LeufsTer7
NM_001354619.2:c.349_355del NP_001341548.1:p.Glu117LeufsTer7
NM_001354620.2:c.778_784del NP_001341549.1:p.Glu260LeufsTer7
NM_001354621.2:c.49_55del NP_001341550.1:p.Glu17LeufsTer7
NM_001354622.2:c.49_55del NP_001341551.1:p.Glu17LeufsTer7
NM_001354623.2:c.49_55del NP_001341552.1:p.Glu17LeufsTer7
NM_001354624.2:c.-3_4del
NM_001354625.2:c.-3_4del
NM_001354626.2:c.-3_4del
NM_001354627.2:c.-3_4del
NM_001354628.2:c.1072_1078del NP_001341557.1:p.Glu358LeufsTer7
NM_001354629.2:c.973_979del NP_001341558.1:p.Glu325LeufsTer7
NM_001354630.2:c.1072_1078del NP_001341559.1:p.Glu358LeufsTer7