Canonical Allele Identifier: CA012606
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90392
dbSNP Id: rs587779045

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993631del , CM000665.2:g.36993631del GRCh38
NC_000003.11:g.37035122del , CM000665.1:g.37035122del GRCh37
NC_000003.10:g.37010126del NCBI36
NG_007109.2:g.5282del , LRG_216:g.5282del
NG_008418.1:g.4674del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.84del ENSP00000416476.2:p.Ala29LeufsTer7
ENST00000450420.6:c.84del ENSP00000393006.2:p.Ala29LeufsTer7
ENST00000456676.7:c.84del ENSP00000416687.3:p.Ala29LeufsTer7
ENST00000458009.6:c.84del ENSP00000411066.2:p.Ala29LeufsTer7
ENST00000616768.6:c.84del ENSP00000480669.3:p.Ala29LeufsTer7
ENST00000673673.2:c.84del ENSP00000500979.2:p.Ala29LeufsTer7
ENST00000231790.8:c.84del MANE Select ENSP00000231790.3:p.Ala29LeufsTer7
ENST00000432299.6:c.84del ENSP00000416783.1:p.Ala29LeufsTer7
ENST00000442249.6:n.99del
ENST00000673673.1:c.37del
ENST00000673713.1:n.115del
ENST00000673715.1:c.84del ENSP00000501301.1:p.Ala29LeufsTer7
ENST00000673897.1:c.84del ENSP00000501109.1:p.Ala29LeufsTer7
ENST00000673899.1:c.84del ENSP00000501030.1:p.Ala29LeufsTer7
ENST00000673947.1:c.84del ENSP00000501304.1:p.Ala29LeufsTer7
ENST00000673972.1:c.84del ENSP00000501281.1:p.Ala29LeufsTer7
ENST00000674111.1:c.84del ENSP00000501162.1:p.Ala29LeufsTer7
ENST00000231790.6:c.84del ENSP00000231790.2:p.Ala29LeufsTer7
ENST00000432299.5:c.84del ENSP00000416783.1:p.Ala29LeufsTer7
ENST00000442249.5:c.84del ENSP00000387511.1:p.Ala29LeufsTer7
ENST00000454028.5:c.84del ENSP00000392649.1:p.Ala29LeufsTer7
ENST00000456676.6:c.59del
ENST00000457004.5:c.84del ENSP00000407773.1:p.Ala29LeufsTer7
ENST00000536378.5:c.-549del ENSP00000444286.2:n.-549del
NM_000249.3:c.84del , LRG_216t1:c.84del NP_000240.1:p.Ala29LeufsTer7
NM_001258271.1:c.84del NP_001245200.1:p.Ala29LeufsTer7
NM_001258273.1:c.-549del NP_001245202.1:n.-549del
XM_005265161.1:c.84del XP_005265218.1:p.Ala29LeufsTer7
XM_005265164.1:c.-635del XP_005265221.1:n.-635del
NM_001167617.2:c.-433del NP_001161089.1:n.-433del
NM_001167618.2:c.-862del NP_001161090.1:n.-862del
NM_001167619.2:c.-775del NP_001161091.1:n.-775del
NM_001258274.2:c.-1012del NP_001245203.1:n.-1012del
NM_001354615.1:c.-543del NP_001341544.1:n.-543del
NM_001354616.1:c.-543del NP_001341545.1:n.-543del
NM_001354617.1:c.-635del NP_001341546.1:n.-635del
NM_001354618.1:c.-867del NP_001341547.1:n.-867del
NM_001354619.1:c.-991del NP_001341548.1:n.-991del
NM_001354620.1:c.-201del NP_001341549.1:n.-201del
NM_001354621.1:c.-960del NP_001341550.1:n.-960del
NM_001354622.1:c.-1073del NP_001341551.1:n.-1073del
NM_001354623.1:c.-982del NP_001341552.1:n.-982del
NM_001354624.1:c.-743del NP_001341553.1:n.-743del
NM_001354625.1:c.-641del NP_001341554.1:n.-641del
NM_001354626.1:c.-738del NP_001341555.1:n.-738del
NM_001354627.1:c.-970del NP_001341556.1:n.-970del
NM_001354628.1:c.84del NP_001341557.1:p.Ala29LeufsTer7
NM_001354629.1:c.84del NP_001341558.1:p.Ala29LeufsTer7
NM_001354630.1:c.84del NP_001341559.1:p.Ala29LeufsTer7
XM_005265161.2:c.84del XP_005265218.1:p.Ala29LeufsTer7
XM_017006450.2:c.-728del XP_016861939.1:n.-728del
NM_000249.4:c.84del MANE Select NP_000240.1:p.Ala29LeufsTer7
NM_001167617.3:c.-433del NP_001161089.1:n.-433del
NM_001167618.3:c.-862del NP_001161090.1:n.-862del
NM_001167619.3:c.-775del NP_001161091.1:n.-775del
NM_001258271.2:c.84del NP_001245200.1:p.Ala29LeufsTer7
NM_001258273.2:c.-549del NP_001245202.1:n.-549del
NM_001258274.3:c.-1012del NP_001245203.1:n.-1012del
NM_001354615.2:c.-543del NP_001341544.1:n.-543del
NM_001354616.2:c.-543del NP_001341545.1:n.-543del
NM_001354617.2:c.-635del NP_001341546.1:n.-635del
NM_001354618.2:c.-867del NP_001341547.1:n.-867del
NM_001354619.2:c.-991del NP_001341548.1:n.-991del
NM_001354620.2:c.-201del NP_001341549.1:n.-201del
NM_001354621.2:c.-960del NP_001341550.1:n.-960del
NM_001354622.2:c.-1073del NP_001341551.1:n.-1073del
NM_001354623.2:c.-982del NP_001341552.1:n.-982del
NM_001354624.2:c.-743del NP_001341553.1:n.-743del
NM_001354625.2:c.-641del NP_001341554.1:n.-641del
NM_001354626.2:c.-738del NP_001341555.1:n.-738del
NM_001354627.2:c.-970del NP_001341556.1:n.-970del
NM_001354628.2:c.84del NP_001341557.1:p.Ala29LeufsTer7
NM_001354629.2:c.84del NP_001341558.1:p.Ala29LeufsTer7
NM_001354630.2:c.84del NP_001341559.1:p.Ala29LeufsTer7