Canonical Allele Identifier: CA010417
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993591dup , CM000665.2:g.36993591dup GRCh38
NC_000003.11:g.37035082dup , CM000665.1:g.37035082dup GRCh37
NC_000003.10:g.37010086dup NCBI36
NG_007109.2:g.5242dup , LRG_216:g.5242dup
NG_008418.1:g.4714dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.44dup ENSP00000416476.2:p.Val16GlyfsTer15
ENST00000450420.6:c.44dup ENSP00000393006.2:p.Val16GlyfsTer15
ENST00000456676.7:c.44dup ENSP00000416687.3:p.Val16GlyfsTer15
ENST00000458009.6:c.44dup ENSP00000411066.2:p.Val16GlyfsTer15
ENST00000616768.6:c.44dup ENSP00000480669.3:p.Val16GlyfsTer15
ENST00000673673.2:c.44dup ENSP00000500979.2:p.Val16GlyfsTer15
ENST00000231790.8:c.44dup MANE Select ENSP00000231790.3:p.Val16GlyfsTer15
ENST00000432299.6:c.44dup ENSP00000416783.1:p.Val16GlyfsTer15
ENST00000442249.6:n.59dup
ENST00000673713.1:n.75dup
ENST00000673715.1:c.44dup ENSP00000501301.1:p.Val16GlyfsTer15
ENST00000673897.1:c.44dup ENSP00000501109.1:p.Val16GlyfsTer15
ENST00000673899.1:c.44dup ENSP00000501030.1:p.Val16GlyfsTer15
ENST00000673947.1:c.44dup ENSP00000501304.1:p.Val16GlyfsTer15
ENST00000673972.1:c.44dup ENSP00000501281.1:p.Val16GlyfsTer15
ENST00000674111.1:c.44dup ENSP00000501162.1:p.Val16GlyfsTer15
ENST00000231790.6:c.44dup ENSP00000231790.2:p.Val16GlyfsTer15
ENST00000432299.5:c.44dup ENSP00000416783.1:p.Val16GlyfsTer15
ENST00000442249.5:c.44dup ENSP00000387511.1:p.Val16GlyfsTer15
ENST00000454028.5:c.44dup ENSP00000392649.1:p.Val16GlyfsTer15
ENST00000456676.6:c.19dup
ENST00000457004.5:c.44dup ENSP00000407773.1:p.Val16GlyfsTer15
ENST00000536378.5:c.-589dup ENSP00000444286.2:n.-589dup
NM_000249.3:c.44dup , LRG_216t1:c.44dup NP_000240.1:p.Val16GlyfsTer15
NM_001258271.1:c.44dup NP_001245200.1:p.Val16GlyfsTer15
NM_001258273.1:c.-589dup NP_001245202.1:n.-589dup
XM_005265161.1:c.44dup XP_005265218.1:p.Val16GlyfsTer15
XM_005265164.1:c.-675dup XP_005265221.1:n.-675dup
NM_001167617.2:c.-473dup NP_001161089.1:n.-473dup
NM_001167618.2:c.-902dup NP_001161090.1:n.-902dup
NM_001167619.2:c.-815dup NP_001161091.1:n.-815dup
NM_001258274.2:c.-1052dup NP_001245203.1:n.-1052dup
NM_001354615.1:c.-583dup NP_001341544.1:n.-583dup
NM_001354616.1:c.-583dup NP_001341545.1:n.-583dup
NM_001354617.1:c.-675dup NP_001341546.1:n.-675dup
NM_001354618.1:c.-907dup NP_001341547.1:n.-907dup
NM_001354619.1:c.-1031dup NP_001341548.1:n.-1031dup
NM_001354620.1:c.-241dup NP_001341549.1:n.-241dup
NM_001354621.1:c.-1000dup NP_001341550.1:n.-1000dup
NM_001354622.1:c.-1113dup NP_001341551.1:n.-1113dup
NM_001354623.1:c.-1022dup NP_001341552.1:n.-1022dup
NM_001354624.1:c.-783dup NP_001341553.1:n.-783dup
NM_001354625.1:c.-681dup NP_001341554.1:n.-681dup
NM_001354626.1:c.-778dup NP_001341555.1:n.-778dup
NM_001354627.1:c.-1010dup NP_001341556.1:n.-1010dup
NM_001354628.1:c.44dup NP_001341557.1:p.Val16GlyfsTer15
NM_001354629.1:c.44dup NP_001341558.1:p.Val16GlyfsTer15
NM_001354630.1:c.44dup NP_001341559.1:p.Val16GlyfsTer15
XM_005265161.2:c.44dup XP_005265218.1:p.Val16GlyfsTer15
XM_017006450.2:c.-768dup XP_016861939.1:n.-768dup
NM_000249.4:c.44dup MANE Select NP_000240.1:p.Val16GlyfsTer15
NM_001167617.3:c.-473dup NP_001161089.1:n.-473dup
NM_001167618.3:c.-902dup NP_001161090.1:n.-902dup
NM_001167619.3:c.-815dup NP_001161091.1:n.-815dup
NM_001258271.2:c.44dup NP_001245200.1:p.Val16GlyfsTer15
NM_001258273.2:c.-589dup NP_001245202.1:n.-589dup
NM_001258274.3:c.-1052dup NP_001245203.1:n.-1052dup
NM_001354615.2:c.-583dup NP_001341544.1:n.-583dup
NM_001354616.2:c.-583dup NP_001341545.1:n.-583dup
NM_001354617.2:c.-675dup NP_001341546.1:n.-675dup
NM_001354618.2:c.-907dup NP_001341547.1:n.-907dup
NM_001354619.2:c.-1031dup NP_001341548.1:n.-1031dup
NM_001354620.2:c.-241dup NP_001341549.1:n.-241dup
NM_001354621.2:c.-1000dup NP_001341550.1:n.-1000dup
NM_001354622.2:c.-1113dup NP_001341551.1:n.-1113dup
NM_001354623.2:c.-1022dup NP_001341552.1:n.-1022dup
NM_001354624.2:c.-783dup NP_001341553.1:n.-783dup
NM_001354625.2:c.-681dup NP_001341554.1:n.-681dup
NM_001354626.2:c.-778dup NP_001341555.1:n.-778dup
NM_001354627.2:c.-1010dup NP_001341556.1:n.-1010dup
NM_001354628.2:c.44dup NP_001341557.1:p.Val16GlyfsTer15
NM_001354629.2:c.44dup NP_001341558.1:p.Val16GlyfsTer15
NM_001354630.2:c.44dup NP_001341559.1:p.Val16GlyfsTer15