Canonical Allele Identifier: CA2586971876
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993646dup , CM000665.2:g.36993646dup GRCh38
NC_000003.11:g.37035137dup , CM000665.1:g.37035137dup GRCh37
NC_000003.10:g.37010141dup NCBI36
NG_007109.2:g.5297dup , LRG_216:g.5297dup
NG_008418.1:g.4661dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.99dup ENSP00000416476.2:p.Glu34ArgfsTer4
ENST00000450420.6:c.99dup ENSP00000393006.2:p.Glu34ArgfsTer4
ENST00000456676.7:c.99dup ENSP00000416687.3:p.Glu34ArgfsTer4
ENST00000458009.6:c.99dup ENSP00000411066.2:p.Glu34ArgfsTer4
ENST00000616768.6:c.99dup ENSP00000480669.3:p.Glu34ArgfsTer4
ENST00000673673.2:c.99dup ENSP00000500979.2:p.Glu34ArgfsTer4
ENST00000231790.8:c.99dup MANE Select ENSP00000231790.3:p.Glu34ArgfsTer4
ENST00000432299.6:c.99dup ENSP00000416783.1:p.Glu34ArgfsTer4
ENST00000442249.6:n.114dup
ENST00000673673.1:c.52dup
ENST00000673713.1:n.130dup
ENST00000673715.1:c.99dup ENSP00000501301.1:p.Glu34ArgfsTer4
ENST00000673897.1:c.99dup ENSP00000501109.1:p.Glu34ArgfsTer4
ENST00000673899.1:c.99dup ENSP00000501030.1:p.Glu34ArgfsTer4
ENST00000673947.1:c.99dup ENSP00000501304.1:p.Glu34ArgfsTer4
ENST00000673972.1:c.99dup ENSP00000501281.1:p.Glu34ArgfsTer4
ENST00000674111.1:c.99dup ENSP00000501162.1:p.Glu34ArgfsTer4
ENST00000231790.6:c.99dup ENSP00000231790.2:p.Glu34ArgfsTer4
ENST00000432299.5:c.99dup ENSP00000416783.1:p.Glu34ArgfsTer4
ENST00000442249.5:c.99dup ENSP00000387511.1:p.Glu34ArgfsTer4
ENST00000454028.5:c.99dup ENSP00000392649.1:p.Glu34ArgfsTer4
ENST00000456676.6:c.74dup
ENST00000457004.5:c.99dup ENSP00000407773.1:p.Glu34ArgfsTer4
ENST00000536378.5:c.-534dup ENSP00000444286.2:n.-534dup
NM_000249.3:c.99dup , LRG_216t1:c.99dup NP_000240.1:p.Glu34ArgfsTer4
NM_001258271.1:c.99dup NP_001245200.1:p.Glu34ArgfsTer4
NM_001258273.1:c.-534dup NP_001245202.1:n.-534dup
XM_005265161.1:c.99dup XP_005265218.1:p.Glu34ArgfsTer4
XM_005265164.1:c.-620dup XP_005265221.1:n.-620dup
NM_001167617.2:c.-418dup NP_001161089.1:n.-418dup
NM_001167618.2:c.-847dup NP_001161090.1:n.-847dup
NM_001167619.2:c.-760dup NP_001161091.1:n.-760dup
NM_001258274.2:c.-997dup NP_001245203.1:n.-997dup
NM_001354615.1:c.-528dup NP_001341544.1:n.-528dup
NM_001354616.1:c.-528dup NP_001341545.1:n.-528dup
NM_001354617.1:c.-620dup NP_001341546.1:n.-620dup
NM_001354618.1:c.-852dup NP_001341547.1:n.-852dup
NM_001354619.1:c.-976dup NP_001341548.1:n.-976dup
NM_001354620.1:c.-186dup NP_001341549.1:n.-186dup
NM_001354621.1:c.-945dup NP_001341550.1:n.-945dup
NM_001354622.1:c.-1058dup NP_001341551.1:n.-1058dup
NM_001354623.1:c.-967dup NP_001341552.1:n.-967dup
NM_001354624.1:c.-728dup NP_001341553.1:n.-728dup
NM_001354625.1:c.-626dup NP_001341554.1:n.-626dup
NM_001354626.1:c.-723dup NP_001341555.1:n.-723dup
NM_001354627.1:c.-955dup NP_001341556.1:n.-955dup
NM_001354628.1:c.99dup NP_001341557.1:p.Glu34ArgfsTer4
NM_001354629.1:c.99dup NP_001341558.1:p.Glu34ArgfsTer4
NM_001354630.1:c.99dup NP_001341559.1:p.Glu34ArgfsTer4
XM_005265161.2:c.99dup XP_005265218.1:p.Glu34ArgfsTer4
XM_017006450.2:c.-713dup XP_016861939.1:n.-713dup
NM_000249.4:c.99dup MANE Select NP_000240.1:p.Glu34ArgfsTer4
NM_001167617.3:c.-418dup NP_001161089.1:n.-418dup
NM_001167618.3:c.-847dup NP_001161090.1:n.-847dup
NM_001167619.3:c.-760dup NP_001161091.1:n.-760dup
NM_001258271.2:c.99dup NP_001245200.1:p.Glu34ArgfsTer4
NM_001258273.2:c.-534dup NP_001245202.1:n.-534dup
NM_001258274.3:c.-997dup NP_001245203.1:n.-997dup
NM_001354615.2:c.-528dup NP_001341544.1:n.-528dup
NM_001354616.2:c.-528dup NP_001341545.1:n.-528dup
NM_001354617.2:c.-620dup NP_001341546.1:n.-620dup
NM_001354618.2:c.-852dup NP_001341547.1:n.-852dup
NM_001354619.2:c.-976dup NP_001341548.1:n.-976dup
NM_001354620.2:c.-186dup NP_001341549.1:n.-186dup
NM_001354621.2:c.-945dup NP_001341550.1:n.-945dup
NM_001354622.2:c.-1058dup NP_001341551.1:n.-1058dup
NM_001354623.2:c.-967dup NP_001341552.1:n.-967dup
NM_001354624.2:c.-728dup NP_001341553.1:n.-728dup
NM_001354625.2:c.-626dup NP_001341554.1:n.-626dup
NM_001354626.2:c.-723dup NP_001341555.1:n.-723dup
NM_001354627.2:c.-955dup NP_001341556.1:n.-955dup
NM_001354628.2:c.99dup NP_001341557.1:p.Glu34ArgfsTer4
NM_001354629.2:c.99dup NP_001341558.1:p.Glu34ArgfsTer4
NM_001354630.2:c.99dup NP_001341559.1:p.Glu34ArgfsTer4