Canonical Allele Identifier: CA2850447228
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993662del , CM000665.2:g.36993662del GRCh38
NC_000003.11:g.37035153del , CM000665.1:g.37035153del GRCh37
NC_000003.10:g.37010157del NCBI36
NG_007109.2:g.5313del , LRG_216:g.5313del
NG_008418.1:g.4643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.115del ENSP00000416476.2:p.Cys39ValfsTer2
ENST00000450420.6:c.115del ENSP00000393006.2:p.Cys39ValfsTer2
ENST00000456676.7:c.115del ENSP00000416687.3:p.Cys39ValfsTer2
ENST00000458009.6:c.115del ENSP00000411066.2:p.Cys39ValfsTer2
ENST00000616768.6:c.115del ENSP00000480669.3:p.Cys39ValfsTer2
ENST00000673673.2:c.115del ENSP00000500979.2:p.Cys39ValfsTer2
ENST00000231790.8:c.115del MANE Select ENSP00000231790.3:p.Cys39ValfsTer2
ENST00000432299.6:c.115del ENSP00000416783.1:p.Trp39GlyfsTer?
ENST00000442249.6:n.130del
ENST00000673673.1:c.68del
ENST00000673713.1:n.146del
ENST00000673715.1:c.115del ENSP00000501301.1:p.Cys39ValfsTer2
ENST00000673897.1:c.115del ENSP00000501109.1:p.Ter39GluextTer9
ENST00000673899.1:c.115del ENSP00000501030.1:p.Cys39ValfsTer2
ENST00000673947.1:c.115del ENSP00000501304.1:p.Ter39AspextTer15
ENST00000673972.1:c.115del ENSP00000501281.1:p.Ter39AspextTer?
ENST00000674111.1:c.115del ENSP00000501162.1:p.Cys39ValfsTer2
ENST00000231790.6:c.115del ENSP00000231790.2:p.Cys39ValfsTer2
ENST00000432299.5:c.115del ENSP00000416783.1:p.Trp39GlyfsTer?
ENST00000442249.5:c.115del ENSP00000387511.1:p.Ter39GluextTer9
ENST00000454028.5:c.115del ENSP00000392649.1:p.Ter39AspextTer?
ENST00000456676.6:c.90del
ENST00000457004.5:c.115del ENSP00000407773.1:p.Ter39AspextTer?
ENST00000536378.5:c.-518del ENSP00000444286.2:n.-518del
NM_000249.3:c.115del , LRG_216t1:c.115del NP_000240.1:p.Cys39ValfsTer2
NM_001258271.1:c.115del NP_001245200.1:p.Cys39ValfsTer2
NM_001258273.1:c.-518del NP_001245202.1:n.-518del
XM_005265161.1:c.115del XP_005265218.1:p.Cys39ValfsTer2
XM_005265164.1:c.-604del XP_005265221.1:n.-604del
NM_001167617.2:c.-402del NP_001161089.1:n.-402del
NM_001167618.2:c.-831del NP_001161090.1:n.-831del
NM_001167619.2:c.-744del NP_001161091.1:n.-744del
NM_001258274.2:c.-981del NP_001245203.1:n.-981del
NM_001354615.1:c.-512del NP_001341544.1:n.-512del
NM_001354616.1:c.-512del NP_001341545.1:n.-512del
NM_001354617.1:c.-604del NP_001341546.1:n.-604del
NM_001354618.1:c.-836del NP_001341547.1:n.-836del
NM_001354619.1:c.-960del NP_001341548.1:n.-960del
NM_001354620.1:c.-170del NP_001341549.1:n.-170del
NM_001354621.1:c.-929del NP_001341550.1:n.-929del
NM_001354622.1:c.-1042del NP_001341551.1:n.-1042del
NM_001354623.1:c.-951del NP_001341552.1:n.-951del
NM_001354624.1:c.-712del NP_001341553.1:n.-712del
NM_001354625.1:c.-610del NP_001341554.1:n.-610del
NM_001354626.1:c.-707del NP_001341555.1:n.-707del
NM_001354627.1:c.-939del NP_001341556.1:n.-939del
NM_001354628.1:c.115del NP_001341557.1:p.Cys39ValfsTer2
NM_001354629.1:c.115del NP_001341558.1:p.Cys39ValfsTer2
NM_001354630.1:c.115del NP_001341559.1:p.Cys39ValfsTer2
XM_005265161.2:c.115del XP_005265218.1:p.Cys39ValfsTer2
XM_017006450.2:c.-697del XP_016861939.1:n.-697del
NM_000249.4:c.115del MANE Select NP_000240.1:p.Cys39ValfsTer2
NM_001167617.3:c.-402del NP_001161089.1:n.-402del
NM_001167618.3:c.-831del NP_001161090.1:n.-831del
NM_001167619.3:c.-744del NP_001161091.1:n.-744del
NM_001258271.2:c.115del NP_001245200.1:p.Cys39ValfsTer2
NM_001258273.2:c.-518del NP_001245202.1:n.-518del
NM_001258274.3:c.-981del NP_001245203.1:n.-981del
NM_001354615.2:c.-512del NP_001341544.1:n.-512del
NM_001354616.2:c.-512del NP_001341545.1:n.-512del
NM_001354617.2:c.-604del NP_001341546.1:n.-604del
NM_001354618.2:c.-836del NP_001341547.1:n.-836del
NM_001354619.2:c.-960del NP_001341548.1:n.-960del
NM_001354620.2:c.-170del NP_001341549.1:n.-170del
NM_001354621.2:c.-929del NP_001341550.1:n.-929del
NM_001354622.2:c.-1042del NP_001341551.1:n.-1042del
NM_001354623.2:c.-951del NP_001341552.1:n.-951del
NM_001354624.2:c.-712del NP_001341553.1:n.-712del
NM_001354625.2:c.-610del NP_001341554.1:n.-610del
NM_001354626.2:c.-707del NP_001341555.1:n.-707del
NM_001354627.2:c.-939del NP_001341556.1:n.-939del
NM_001354628.2:c.115del NP_001341557.1:p.Cys39ValfsTer2
NM_001354629.2:c.115del NP_001341558.1:p.Cys39ValfsTer2
NM_001354630.2:c.115del NP_001341559.1:p.Cys39ValfsTer2