Canonical Allele Identifier: CA2697550782

Gene: MLH1

Linked Data

• ClinVar Variation Id: 2773590
• ClinVar RCV Id: RCV003584447

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050530_37050558del , CM000665.2:g.37050530_37050558del	GRCh38
NC_000003.11:g.37092021_37092049del , CM000665.1:g.37092021_37092049del	GRCh37
NC_000003.10:g.37067025_37067053del	NCBI36
NG_007109.2:g.62181_62209del , LRG_216:g.62181_62209del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1712_1740del	ENSP00000416476.2:p.Trp571SerfsTer?
ENST00000429117.6:c.1854_1882del	ENSP00000407019.2:p.Glu619ThrfsTer6
ENST00000456676.7:c.1941_1969del	ENSP00000416687.3:p.Glu648ThrfsTer6
ENST00000492474.6:c.1425_1453del	ENSP00000518393.1:p.Glu476ThrfsTer6
ENST00000616768.6:c.2055_2083del	ENSP00000480669.3:p.Glu686ThrfsTer6
ENST00000673673.2:c.1983_2011del	ENSP00000500979.2:p.Glu662ThrfsTer6
ENST00000231790.8:c.2148_2176del MANE Select	ENSP00000231790.3:p.Glu717ThrfsTer6
ENST00000413212.2:c.*1066_*1094del	ENSP00000400844.2:n.*1066_*1094del
ENST00000432299.6:c.*1980_*2008del	ENSP00000416783.1:n.*1980_*2008del
ENST00000447829.6:c.*1259_*1287del	ENSP00000399329.2:n.*1259_*1287del
ENST00000539477.6:c.1425_1453del	ENSP00000443665.1:p.Glu476ThrfsTer6
ENST00000616768.5:c.1092_1120del	ENSP00000480669.2:p.Glu365ThrfsTer6
ENST00000673673.1:c.1936_1964del
ENST00000673741.1:n.1182_1210del
ENST00000673889.1:n.1530_1558del
ENST00000673897.1:c.*1940_*1968del	ENSP00000501109.1:n.*1940_*1968del
ENST00000673899.1:c.1416_1444del	ENSP00000501030.1:p.Glu473ThrfsTer6
ENST00000673947.1:c.*2288_*2316del	ENSP00000501304.1:n.*2288_*2316del
ENST00000673972.1:c.*2026_*2054del	ENSP00000501281.1:n.*2026_*2054del
ENST00000674019.1:c.1425_1453del	ENSP00000501081.1:p.Glu476ThrfsTer6
ENST00000674111.1:c.*377_*405del	ENSP00000501162.1:n.*377_*405del
ENST00000674125.1:n.859_887del
ENST00000231790.6:c.2148_2176del	ENSP00000231790.2:p.Glu717ThrfsTer6
ENST00000435176.5:c.1854_1882del	ENSP00000402564.1:p.Glu619ThrfsTer6
ENST00000455445.6:c.1425_1453del	ENSP00000398272.2:p.Glu476ThrfsTer6
ENST00000456676.6:c.1916_1944del
ENST00000458205.6:c.1425_1453del	ENSP00000402667.2:p.Glu476ThrfsTer6
ENST00000536378.5:c.1425_1453del	ENSP00000444286.2:p.Glu476ThrfsTer6
ENST00000539477.5:c.1425_1453del	ENSP00000443665.1:p.Glu476ThrfsTer6
NM_000249.3:c.2148_2176del , LRG_216t1:c.2148_2176del	NP_000240.1:p.Glu717ThrfsTer6
NM_001167617.1:c.1854_1882del	NP_001161089.1:p.Glu619ThrfsTer6
NM_001167618.1:c.1425_1453del	NP_001161090.1:p.Glu476ThrfsTer6
NM_001167619.1:c.1425_1453del	NP_001161091.1:p.Glu476ThrfsTer6
NM_001258271.1:c.1941_1969del	NP_001245200.1:p.Glu648ThrfsTer6
NM_001258273.1:c.1425_1453del	NP_001245202.1:p.Glu476ThrfsTer6
NM_001258274.1:c.1425_1453del	NP_001245203.1:p.Glu476ThrfsTer6
XM_005265161.1:c.1941_1969del	XP_005265218.1:p.Glu648ThrfsTer6
XM_005265163.1:c.1425_1453del	XP_005265220.1:p.Glu476ThrfsTer6
XM_005265164.1:c.1425_1453del	XP_005265221.1:p.Glu476ThrfsTer6
XM_005265166.1:c.1125_1153del	XP_005265223.1:p.Glu376ThrfsTer6
XM_011533727.1:c.1074_1102del	XP_011532029.1:p.Glu359ThrfsTer6
NM_001167617.2:c.1854_1882del	NP_001161089.1:p.Glu619ThrfsTer6
NM_001167618.2:c.1425_1453del	NP_001161090.1:p.Glu476ThrfsTer6
NM_001167619.2:c.1425_1453del	NP_001161091.1:p.Glu476ThrfsTer6
NM_001258274.2:c.1425_1453del	NP_001245203.1:p.Glu476ThrfsTer6
NM_001354615.1:c.1425_1453del	NP_001341544.1:p.Glu476ThrfsTer6
NM_001354616.1:c.1425_1453del	NP_001341545.1:p.Glu476ThrfsTer6
NM_001354617.1:c.1425_1453del	NP_001341546.1:p.Glu476ThrfsTer6
NM_001354618.1:c.1425_1453del	NP_001341547.1:p.Glu476ThrfsTer6
NM_001354619.1:c.1425_1453del	NP_001341548.1:p.Glu476ThrfsTer6
NM_001354620.1:c.1854_1882del	NP_001341549.1:p.Glu619ThrfsTer6
NM_001354621.1:c.1125_1153del	NP_001341550.1:p.Glu376ThrfsTer6
NM_001354622.1:c.1125_1153del	NP_001341551.1:p.Glu376ThrfsTer6
NM_001354623.1:c.1125_1153del	NP_001341552.1:p.Glu376ThrfsTer6
NM_001354624.1:c.1074_1102del	NP_001341553.1:p.Glu359ThrfsTer6
NM_001354625.1:c.1074_1102del	NP_001341554.1:p.Glu359ThrfsTer6
NM_001354626.1:c.1074_1102del	NP_001341555.1:p.Glu359ThrfsTer6
NM_001354627.1:c.1074_1102del	NP_001341556.1:p.Glu359ThrfsTer6
NM_001354628.1:c.2055_2083del	NP_001341557.1:p.Glu686ThrfsTer6
NM_001354629.1:c.2049_2077del	NP_001341558.1:p.Glu684ThrfsTer6
NM_001354630.1:c.1983_2011del	NP_001341559.1:p.Glu662ThrfsTer6
XM_005265161.2:c.1941_1969del	XP_005265218.1:p.Glu648ThrfsTer6
XM_017006450.2:c.1125_1153del	XP_016861939.1:p.Glu376ThrfsTer6
NM_000249.4:c.2148_2176del MANE Select	NP_000240.1:p.Glu717ThrfsTer6
NM_001167617.3:c.1854_1882del	NP_001161089.1:p.Glu619ThrfsTer6
NM_001167618.3:c.1425_1453del	NP_001161090.1:p.Glu476ThrfsTer6
NM_001167619.3:c.1425_1453del	NP_001161091.1:p.Glu476ThrfsTer6
NM_001258271.2:c.1941_1969del	NP_001245200.1:p.Glu648ThrfsTer6
NM_001258273.2:c.1425_1453del	NP_001245202.1:p.Glu476ThrfsTer6
NM_001258274.3:c.1425_1453del	NP_001245203.1:p.Glu476ThrfsTer6
NM_001354615.2:c.1425_1453del	NP_001341544.1:p.Glu476ThrfsTer6
NM_001354616.2:c.1425_1453del	NP_001341545.1:p.Glu476ThrfsTer6
NM_001354617.2:c.1425_1453del	NP_001341546.1:p.Glu476ThrfsTer6
NM_001354618.2:c.1425_1453del	NP_001341547.1:p.Glu476ThrfsTer6
NM_001354619.2:c.1425_1453del	NP_001341548.1:p.Glu476ThrfsTer6
NM_001354620.2:c.1854_1882del	NP_001341549.1:p.Glu619ThrfsTer6
NM_001354621.2:c.1125_1153del	NP_001341550.1:p.Glu376ThrfsTer6
NM_001354622.2:c.1125_1153del	NP_001341551.1:p.Glu376ThrfsTer6
NM_001354623.2:c.1125_1153del	NP_001341552.1:p.Glu376ThrfsTer6
NM_001354624.2:c.1074_1102del	NP_001341553.1:p.Glu359ThrfsTer6
NM_001354625.2:c.1074_1102del	NP_001341554.1:p.Glu359ThrfsTer6
NM_001354626.2:c.1074_1102del	NP_001341555.1:p.Glu359ThrfsTer6
NM_001354627.2:c.1074_1102del	NP_001341556.1:p.Glu359ThrfsTer6
NM_001354628.2:c.2055_2083del	NP_001341557.1:p.Glu686ThrfsTer6
NM_001354629.2:c.2049_2077del	NP_001341558.1:p.Glu684ThrfsTer6
NM_001354630.2:c.1983_2011del	NP_001341559.1:p.Glu662ThrfsTer6