Canonical Allele Identifier: CA2586971874

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993641_36993642dup , CM000665.2:g.36993641_36993642dup	GRCh38
NC_000003.11:g.37035132_37035133dup , CM000665.1:g.37035132_37035133dup	GRCh37
NC_000003.10:g.37010136_37010137dup	NCBI36
NG_007109.2:g.5292_5293dup , LRG_216:g.5292_5293dup
NG_008418.1:g.4664_4665dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.94_95dup	ENSP00000416476.2:p.Lys33SerfsTer4
ENST00000450420.6:c.94_95dup	ENSP00000393006.2:p.Lys33SerfsTer4
ENST00000456676.7:c.94_95dup	ENSP00000416687.3:p.Lys33SerfsTer4
ENST00000458009.6:c.94_95dup	ENSP00000411066.2:p.Lys33SerfsTer4
ENST00000616768.6:c.94_95dup	ENSP00000480669.3:p.Lys33SerfsTer4
ENST00000673673.2:c.94_95dup	ENSP00000500979.2:p.Lys33SerfsTer4
ENST00000231790.8:c.94_95dup MANE Select	ENSP00000231790.3:p.Lys33SerfsTer4
ENST00000432299.6:c.94_95dup	ENSP00000416783.1:p.Lys33SerfsTer4
ENST00000442249.6:n.109_110dup
ENST00000673673.1:c.47_48dup
ENST00000673713.1:n.125_126dup
ENST00000673715.1:c.94_95dup	ENSP00000501301.1:p.Lys33SerfsTer4
ENST00000673897.1:c.94_95dup	ENSP00000501109.1:p.Lys33SerfsTer4
ENST00000673899.1:c.94_95dup	ENSP00000501030.1:p.Lys33SerfsTer4
ENST00000673947.1:c.94_95dup	ENSP00000501304.1:p.Lys33SerfsTer4
ENST00000673972.1:c.94_95dup	ENSP00000501281.1:p.Lys33SerfsTer4
ENST00000674111.1:c.94_95dup	ENSP00000501162.1:p.Lys33SerfsTer4
ENST00000231790.6:c.94_95dup	ENSP00000231790.2:p.Lys33SerfsTer4
ENST00000432299.5:c.94_95dup	ENSP00000416783.1:p.Lys33SerfsTer4
ENST00000442249.5:c.94_95dup	ENSP00000387511.1:p.Lys33SerfsTer4
ENST00000454028.5:c.94_95dup	ENSP00000392649.1:p.Lys33SerfsTer4
ENST00000456676.6:c.69_70dup
ENST00000457004.5:c.94_95dup	ENSP00000407773.1:p.Lys33SerfsTer4
ENST00000536378.5:c.-539_-538dup	ENSP00000444286.2:n.-539_-538dup
NM_000249.3:c.94_95dup , LRG_216t1:c.94_95dup	NP_000240.1:p.Lys33SerfsTer4
NM_001258271.1:c.94_95dup	NP_001245200.1:p.Lys33SerfsTer4
NM_001258273.1:c.-539_-538dup	NP_001245202.1:n.-539_-538dup
XM_005265161.1:c.94_95dup	XP_005265218.1:p.Lys33SerfsTer4
XM_005265164.1:c.-625_-624dup	XP_005265221.1:n.-625_-624dup
NM_001167617.2:c.-423_-422dup	NP_001161089.1:n.-423_-422dup
NM_001167618.2:c.-852_-851dup	NP_001161090.1:n.-852_-851dup
NM_001167619.2:c.-765_-764dup	NP_001161091.1:n.-765_-764dup
NM_001258274.2:c.-1002_-1001dup	NP_001245203.1:n.-1002_-1001dup
NM_001354615.1:c.-533_-532dup	NP_001341544.1:n.-533_-532dup
NM_001354616.1:c.-533_-532dup	NP_001341545.1:n.-533_-532dup
NM_001354617.1:c.-625_-624dup	NP_001341546.1:n.-625_-624dup
NM_001354618.1:c.-857_-856dup	NP_001341547.1:n.-857_-856dup
NM_001354619.1:c.-981_-980dup	NP_001341548.1:n.-981_-980dup
NM_001354620.1:c.-191_-190dup	NP_001341549.1:n.-191_-190dup
NM_001354621.1:c.-950_-949dup	NP_001341550.1:n.-950_-949dup
NM_001354622.1:c.-1063_-1062dup	NP_001341551.1:n.-1063_-1062dup
NM_001354623.1:c.-972_-971dup	NP_001341552.1:n.-972_-971dup
NM_001354624.1:c.-733_-732dup	NP_001341553.1:n.-733_-732dup
NM_001354625.1:c.-631_-630dup	NP_001341554.1:n.-631_-630dup
NM_001354626.1:c.-728_-727dup	NP_001341555.1:n.-728_-727dup
NM_001354627.1:c.-960_-959dup	NP_001341556.1:n.-960_-959dup
NM_001354628.1:c.94_95dup	NP_001341557.1:p.Lys33SerfsTer4
NM_001354629.1:c.94_95dup	NP_001341558.1:p.Lys33SerfsTer4
NM_001354630.1:c.94_95dup	NP_001341559.1:p.Lys33SerfsTer4
XM_005265161.2:c.94_95dup	XP_005265218.1:p.Lys33SerfsTer4
XM_017006450.2:c.-718_-717dup	XP_016861939.1:n.-718_-717dup
NM_000249.4:c.94_95dup MANE Select	NP_000240.1:p.Lys33SerfsTer4
NM_001167617.3:c.-423_-422dup	NP_001161089.1:n.-423_-422dup
NM_001167618.3:c.-852_-851dup	NP_001161090.1:n.-852_-851dup
NM_001167619.3:c.-765_-764dup	NP_001161091.1:n.-765_-764dup
NM_001258271.2:c.94_95dup	NP_001245200.1:p.Lys33SerfsTer4
NM_001258273.2:c.-539_-538dup	NP_001245202.1:n.-539_-538dup
NM_001258274.3:c.-1002_-1001dup	NP_001245203.1:n.-1002_-1001dup
NM_001354615.2:c.-533_-532dup	NP_001341544.1:n.-533_-532dup
NM_001354616.2:c.-533_-532dup	NP_001341545.1:n.-533_-532dup
NM_001354617.2:c.-625_-624dup	NP_001341546.1:n.-625_-624dup
NM_001354618.2:c.-857_-856dup	NP_001341547.1:n.-857_-856dup
NM_001354619.2:c.-981_-980dup	NP_001341548.1:n.-981_-980dup
NM_001354620.2:c.-191_-190dup	NP_001341549.1:n.-191_-190dup
NM_001354621.2:c.-950_-949dup	NP_001341550.1:n.-950_-949dup
NM_001354622.2:c.-1063_-1062dup	NP_001341551.1:n.-1063_-1062dup
NM_001354623.2:c.-972_-971dup	NP_001341552.1:n.-972_-971dup
NM_001354624.2:c.-733_-732dup	NP_001341553.1:n.-733_-732dup
NM_001354625.2:c.-631_-630dup	NP_001341554.1:n.-631_-630dup
NM_001354626.2:c.-728_-727dup	NP_001341555.1:n.-728_-727dup
NM_001354627.2:c.-960_-959dup	NP_001341556.1:n.-960_-959dup
NM_001354628.2:c.94_95dup	NP_001341557.1:p.Lys33SerfsTer4
NM_001354629.2:c.94_95dup	NP_001341558.1:p.Lys33SerfsTer4
NM_001354630.2:c.94_95dup	NP_001341559.1:p.Lys33SerfsTer4