Canonical Allele Identifier: CA2580069565

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1787142
• ClinVar RCV Id: RCV002432775

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050556_37050563del , CM000665.2:g.37050556_37050563del	GRCh38
NC_000003.11:g.37092047_37092054del , CM000665.1:g.37092047_37092054del	GRCh37
NC_000003.10:g.37067051_37067058del	NCBI36
NG_007109.2:g.62207_62214del , LRG_216:g.62207_62214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1738_1745del	ENSP00000416476.2:p.Ala580IlefsTer30
ENST00000429117.6:c.1880_1887del	ENSP00000407019.2:p.Arg627HisfsTer5
ENST00000456676.7:c.1967_1974del	ENSP00000416687.3:p.Arg656HisfsTer5
ENST00000492474.6:c.1451_1458del	ENSP00000518393.1:p.Arg484HisfsTer5
ENST00000616768.6:c.2081_2088del	ENSP00000480669.3:p.Arg694HisfsTer5
ENST00000673673.2:c.2009_2016del	ENSP00000500979.2:p.Arg670HisfsTer5
ENST00000231790.8:c.2174_2181del MANE Select	ENSP00000231790.3:p.Arg725HisfsTer5
ENST00000413212.2:c.*1092_*1099del	ENSP00000400844.2:n.*1092_*1099del
ENST00000432299.6:c.*2006_*2013del	ENSP00000416783.1:n.*2006_*2013del
ENST00000447829.6:c.*1285_*1292del	ENSP00000399329.2:n.*1285_*1292del
ENST00000539477.6:c.1451_1458del	ENSP00000443665.1:p.Arg484HisfsTer5
ENST00000616768.5:c.1118_1125del	ENSP00000480669.2:p.Arg373HisfsTer5
ENST00000673673.1:c.1962_1969del
ENST00000673741.1:n.1208_1215del
ENST00000673889.1:n.1556_1563del
ENST00000673897.1:c.*1966_*1973del	ENSP00000501109.1:n.*1966_*1973del
ENST00000673899.1:c.1442_1449del	ENSP00000501030.1:p.Arg481HisfsTer5
ENST00000673947.1:c.*2314_*2321del	ENSP00000501304.1:n.*2314_*2321del
ENST00000673972.1:c.*2052_*2059del	ENSP00000501281.1:n.*2052_*2059del
ENST00000674019.1:c.1451_1458del	ENSP00000501081.1:p.Arg484HisfsTer5
ENST00000674111.1:c.*403_*410del	ENSP00000501162.1:n.*403_*410del
ENST00000674125.1:n.885_892del
ENST00000231790.6:c.2174_2181del	ENSP00000231790.2:p.Arg725HisfsTer5
ENST00000435176.5:c.1880_1887del	ENSP00000402564.1:p.Arg627HisfsTer5
ENST00000455445.6:c.1451_1458del	ENSP00000398272.2:p.Arg484HisfsTer5
ENST00000456676.6:c.1942_1949del
ENST00000458205.6:c.1451_1458del	ENSP00000402667.2:p.Arg484HisfsTer5
ENST00000536378.5:c.1451_1458del	ENSP00000444286.2:p.Arg484HisfsTer5
ENST00000539477.5:c.1451_1458del	ENSP00000443665.1:p.Arg484HisfsTer5
NM_000249.3:c.2174_2181del , LRG_216t1:c.2174_2181del	NP_000240.1:p.Arg725HisfsTer5
NM_001167617.1:c.1880_1887del	NP_001161089.1:p.Arg627HisfsTer5
NM_001167618.1:c.1451_1458del	NP_001161090.1:p.Arg484HisfsTer5
NM_001167619.1:c.1451_1458del	NP_001161091.1:p.Arg484HisfsTer5
NM_001258271.1:c.1967_1974del	NP_001245200.1:p.Arg656HisfsTer5
NM_001258273.1:c.1451_1458del	NP_001245202.1:p.Arg484HisfsTer5
NM_001258274.1:c.1451_1458del	NP_001245203.1:p.Arg484HisfsTer5
XM_005265161.1:c.1967_1974del	XP_005265218.1:p.Arg656HisfsTer5
XM_005265163.1:c.1451_1458del	XP_005265220.1:p.Arg484HisfsTer5
XM_005265164.1:c.1451_1458del	XP_005265221.1:p.Arg484HisfsTer5
XM_005265166.1:c.1151_1158del	XP_005265223.1:p.Arg384HisfsTer5
XM_011533727.1:c.1100_1107del	XP_011532029.1:p.Arg367HisfsTer5
NM_001167617.2:c.1880_1887del	NP_001161089.1:p.Arg627HisfsTer5
NM_001167618.2:c.1451_1458del	NP_001161090.1:p.Arg484HisfsTer5
NM_001167619.2:c.1451_1458del	NP_001161091.1:p.Arg484HisfsTer5
NM_001258274.2:c.1451_1458del	NP_001245203.1:p.Arg484HisfsTer5
NM_001354615.1:c.1451_1458del	NP_001341544.1:p.Arg484HisfsTer5
NM_001354616.1:c.1451_1458del	NP_001341545.1:p.Arg484HisfsTer5
NM_001354617.1:c.1451_1458del	NP_001341546.1:p.Arg484HisfsTer5
NM_001354618.1:c.1451_1458del	NP_001341547.1:p.Arg484HisfsTer5
NM_001354619.1:c.1451_1458del	NP_001341548.1:p.Arg484HisfsTer5
NM_001354620.1:c.1880_1887del	NP_001341549.1:p.Arg627HisfsTer5
NM_001354621.1:c.1151_1158del	NP_001341550.1:p.Arg384HisfsTer5
NM_001354622.1:c.1151_1158del	NP_001341551.1:p.Arg384HisfsTer5
NM_001354623.1:c.1151_1158del	NP_001341552.1:p.Arg384HisfsTer5
NM_001354624.1:c.1100_1107del	NP_001341553.1:p.Arg367HisfsTer5
NM_001354625.1:c.1100_1107del	NP_001341554.1:p.Arg367HisfsTer5
NM_001354626.1:c.1100_1107del	NP_001341555.1:p.Arg367HisfsTer5
NM_001354627.1:c.1100_1107del	NP_001341556.1:p.Arg367HisfsTer5
NM_001354628.1:c.2081_2088del	NP_001341557.1:p.Arg694HisfsTer5
NM_001354629.1:c.2075_2082del	NP_001341558.1:p.Arg692HisfsTer5
NM_001354630.1:c.2009_2016del	NP_001341559.1:p.Arg670HisfsTer5
XM_005265161.2:c.1967_1974del	XP_005265218.1:p.Arg656HisfsTer5
XM_017006450.2:c.1151_1158del	XP_016861939.1:p.Arg384HisfsTer5
NM_000249.4:c.2174_2181del MANE Select	NP_000240.1:p.Arg725HisfsTer5
NM_001167617.3:c.1880_1887del	NP_001161089.1:p.Arg627HisfsTer5
NM_001167618.3:c.1451_1458del	NP_001161090.1:p.Arg484HisfsTer5
NM_001167619.3:c.1451_1458del	NP_001161091.1:p.Arg484HisfsTer5
NM_001258271.2:c.1967_1974del	NP_001245200.1:p.Arg656HisfsTer5
NM_001258273.2:c.1451_1458del	NP_001245202.1:p.Arg484HisfsTer5
NM_001258274.3:c.1451_1458del	NP_001245203.1:p.Arg484HisfsTer5
NM_001354615.2:c.1451_1458del	NP_001341544.1:p.Arg484HisfsTer5
NM_001354616.2:c.1451_1458del	NP_001341545.1:p.Arg484HisfsTer5
NM_001354617.2:c.1451_1458del	NP_001341546.1:p.Arg484HisfsTer5
NM_001354618.2:c.1451_1458del	NP_001341547.1:p.Arg484HisfsTer5
NM_001354619.2:c.1451_1458del	NP_001341548.1:p.Arg484HisfsTer5
NM_001354620.2:c.1880_1887del	NP_001341549.1:p.Arg627HisfsTer5
NM_001354621.2:c.1151_1158del	NP_001341550.1:p.Arg384HisfsTer5
NM_001354622.2:c.1151_1158del	NP_001341551.1:p.Arg384HisfsTer5
NM_001354623.2:c.1151_1158del	NP_001341552.1:p.Arg384HisfsTer5
NM_001354624.2:c.1100_1107del	NP_001341553.1:p.Arg367HisfsTer5
NM_001354625.2:c.1100_1107del	NP_001341554.1:p.Arg367HisfsTer5
NM_001354626.2:c.1100_1107del	NP_001341555.1:p.Arg367HisfsTer5
NM_001354627.2:c.1100_1107del	NP_001341556.1:p.Arg367HisfsTer5
NM_001354628.2:c.2081_2088del	NP_001341557.1:p.Arg694HisfsTer5
NM_001354629.2:c.2075_2082del	NP_001341558.1:p.Arg692HisfsTer5
NM_001354630.2:c.2009_2016del	NP_001341559.1:p.Arg670HisfsTer5