Canonical Allele Identifier: CA16611269

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050518del , CM000665.2:g.37050518del	GRCh38
NC_000003.11:g.37092009del , CM000665.1:g.37092009del	GRCh37
NC_000003.10:g.37067013del	NCBI36
NG_007109.2:g.62169del , LRG_216:g.62169del

Transcript Alleles

HGVS	Amino-acid Change
NM_000249.4:c.2136del MANE Select	NP_000240.1:p.Trp712Ter
ENST00000231790.8:c.2136del MANE Select	ENSP00000231790.3:p.Trp712Ter
NM_000249.3:c.2136del , LRG_216t1:c.2136del	NP_000240.1:p.Trp712Ter
NM_001167617.1:c.1842del	NP_001161089.1:p.Trp614Ter
NM_001167617.2:c.1842del	NP_001161089.1:p.Trp614Ter
NM_001167617.3:c.1842del	NP_001161089.1:p.Trp614Ter
NM_001167618.1:c.1413del	NP_001161090.1:p.Trp471Ter
NM_001167618.2:c.1413del	NP_001161090.1:p.Trp471Ter
NM_001167618.3:c.1413del	NP_001161090.1:p.Trp471Ter
NM_001167619.1:c.1413del	NP_001161091.1:p.Trp471Ter
NM_001167619.2:c.1413del	NP_001161091.1:p.Trp471Ter
NM_001167619.3:c.1413del	NP_001161091.1:p.Trp471Ter
NM_001258271.1:c.1929del	NP_001245200.1:p.Trp643Ter
NM_001258271.2:c.1929del	NP_001245200.1:p.Trp643Ter
NM_001258273.1:c.1413del	NP_001245202.1:p.Trp471Ter
NM_001258273.2:c.1413del	NP_001245202.1:p.Trp471Ter
NM_001258274.1:c.1413del	NP_001245203.1:p.Trp471Ter
NM_001258274.2:c.1413del	NP_001245203.1:p.Trp471Ter
NM_001258274.3:c.1413del	NP_001245203.1:p.Trp471Ter
NM_001354615.1:c.1413del	NP_001341544.1:p.Trp471Ter
NM_001354615.2:c.1413del	NP_001341544.1:p.Trp471Ter
NM_001354616.1:c.1413del	NP_001341545.1:p.Trp471Ter
NM_001354616.2:c.1413del	NP_001341545.1:p.Trp471Ter
NM_001354617.1:c.1413del	NP_001341546.1:p.Trp471Ter
NM_001354617.2:c.1413del	NP_001341546.1:p.Trp471Ter
NM_001354618.1:c.1413del	NP_001341547.1:p.Trp471Ter
NM_001354618.2:c.1413del	NP_001341547.1:p.Trp471Ter
NM_001354619.1:c.1413del	NP_001341548.1:p.Trp471Ter
NM_001354619.2:c.1413del	NP_001341548.1:p.Trp471Ter
NM_001354620.1:c.1842del	NP_001341549.1:p.Trp614Ter
NM_001354620.2:c.1842del	NP_001341549.1:p.Trp614Ter
NM_001354621.1:c.1113del	NP_001341550.1:p.Trp371Ter
NM_001354621.2:c.1113del	NP_001341550.1:p.Trp371Ter
NM_001354622.1:c.1113del	NP_001341551.1:p.Trp371Ter
NM_001354622.2:c.1113del	NP_001341551.1:p.Trp371Ter
NM_001354623.1:c.1113del	NP_001341552.1:p.Trp371Ter
NM_001354623.2:c.1113del	NP_001341552.1:p.Trp371Ter
NM_001354624.1:c.1062del	NP_001341553.1:p.Trp354Ter
NM_001354624.2:c.1062del	NP_001341553.1:p.Trp354Ter
NM_001354625.1:c.1062del	NP_001341554.1:p.Trp354Ter
NM_001354625.2:c.1062del	NP_001341554.1:p.Trp354Ter
NM_001354626.1:c.1062del	NP_001341555.1:p.Trp354Ter
NM_001354626.2:c.1062del	NP_001341555.1:p.Trp354Ter
NM_001354627.1:c.1062del	NP_001341556.1:p.Trp354Ter
NM_001354627.2:c.1062del	NP_001341556.1:p.Trp354Ter
NM_001354628.1:c.2043del	NP_001341557.1:p.Trp681Ter
NM_001354628.2:c.2043del	NP_001341557.1:p.Trp681Ter
NM_001354629.1:c.2037del	NP_001341558.1:p.Trp679Ter
NM_001354629.2:c.2037del	NP_001341558.1:p.Trp679Ter
NM_001354630.1:c.1971del	NP_001341559.1:p.Trp657Ter
NM_001354630.2:c.1971del	NP_001341559.1:p.Trp657Ter
ENST00000231790.6:c.2136del	ENSP00000231790.2:p.Trp712Ter
ENST00000413212.2:c.*1054del	ENSP00000400844.2:n.*1054del
ENST00000413740.1:c.323del	ENSP00000416476.1:p.Gly108GlufsTer?
ENST00000413740.2:c.1700del	ENSP00000416476.2:p.Gly567GlufsTer10
ENST00000429117.6:c.1842del	ENSP00000407019.2:p.Trp614Ter
ENST00000432299.6:c.*1968del	ENSP00000416783.1:n.*1968del
ENST00000435176.5:c.1842del	ENSP00000402564.1:p.Trp614Ter
ENST00000447829.6:c.*1247del	ENSP00000399329.2:n.*1247del
ENST00000450420.5:c.214del	ENSP00000393006.1:n.214del
ENST00000450420.6:c.*28del	ENSP00000393006.2:n.*28del
ENST00000455445.6:c.1413del	ENSP00000398272.2:p.Trp471Ter
ENST00000456676.6:c.1904del
ENST00000456676.7:c.1929del	ENSP00000416687.3:p.Trp643Ter
ENST00000458205.6:c.1413del	ENSP00000402667.2:p.Trp471Ter
ENST00000492474.6:c.1413del	ENSP00000518393.1:p.Trp471Ter
ENST00000536378.5:c.1413del	ENSP00000444286.2:p.Trp471Ter
ENST00000539477.5:c.1413del	ENSP00000443665.1:p.Trp471Ter
ENST00000539477.6:c.1413del	ENSP00000443665.1:p.Trp471Ter
ENST00000616768.5:c.1080del	ENSP00000480669.2:p.Trp360Ter
ENST00000616768.6:c.2043del	ENSP00000480669.3:p.Trp681Ter
ENST00000673673.1:c.1924del
ENST00000673673.2:c.1971del	ENSP00000500979.2:p.Trp657Ter
ENST00000673741.1:n.1170del
ENST00000673889.1:n.1518del
ENST00000673897.1:c.*1928del	ENSP00000501109.1:n.*1928del
ENST00000673899.1:c.1404del	ENSP00000501030.1:p.Trp468Ter
ENST00000673947.1:c.*2276del	ENSP00000501304.1:n.*2276del
ENST00000673972.1:c.*2014del	ENSP00000501281.1:n.*2014del
ENST00000674019.1:c.1413del	ENSP00000501081.1:p.Trp471Ter
ENST00000674111.1:c.*365del	ENSP00000501162.1:n.*365del
ENST00000674125.1:n.847del
XM_005265161.1:c.1929del	XP_005265218.1:p.Trp643Ter
XM_005265161.2:c.1929del	XP_005265218.1:p.Trp643Ter
XM_005265163.1:c.1413del	XP_005265220.1:p.Trp471Ter
XM_005265164.1:c.1413del	XP_005265221.1:p.Trp471Ter
XM_005265166.1:c.1113del	XP_005265223.1:p.Trp371Ter
XM_011533727.1:c.1062del	XP_011532029.1:p.Trp354Ter
XM_017006450.2:c.1113del	XP_016861939.1:p.Trp371Ter