Canonical Allele Identifier: CA2580069579

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1787479
• ClinVar RCV Id: RCV002425595

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050578_37050601del , CM000665.2:g.37050578_37050601del	GRCh38
NC_000003.11:g.37092069_37092092del , CM000665.1:g.37092069_37092092del	GRCh37
NC_000003.10:g.37067073_37067096del	NCBI36
NG_007109.2:g.62229_62252del , LRG_216:g.62229_62252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1760_1783del	ENSP00000416476.2:p.Asn587_Ser595delinsThr
ENST00000429117.6:c.1902_1925del	ENSP00000407019.2:p.Lys634_Ile642delinsAsn
ENST00000456676.7:c.1989_2012del	ENSP00000416687.3:p.Lys663_Ile671delinsAsn
ENST00000492474.6:c.1473_1496del	ENSP00000518393.1:p.Lys491_Ile499delinsAsn
ENST00000616768.6:c.2103_2126del	ENSP00000480669.3:p.Lys701_Ile709delinsAsn
ENST00000673673.2:c.2031_2054del	ENSP00000500979.2:p.Lys677_Ile685delinsAsn
ENST00000231790.8:c.2196_2219del MANE Select	ENSP00000231790.3:p.Lys732_Ile740delinsAsn
ENST00000413212.2:c.*1114_*1137del	ENSP00000400844.2:n.*1114_*1137del
ENST00000432299.6:c.*2028_*2051del	ENSP00000416783.1:n.*2028_*2051del
ENST00000447829.6:c.*1307_*1330del	ENSP00000399329.2:n.*1307_*1330del
ENST00000539477.6:c.1473_1496del	ENSP00000443665.1:p.Lys491_Ile499delinsAsn
ENST00000616768.5:c.1140_1163del	ENSP00000480669.2:p.Lys380_Ile388delinsAsn
ENST00000673673.1:c.1984_2007del
ENST00000673741.1:n.1230_1253del
ENST00000673889.1:n.1578_1601del
ENST00000673897.1:c.*1988_*2011del	ENSP00000501109.1:n.*1988_*2011del
ENST00000673899.1:c.1464_1487del	ENSP00000501030.1:p.Lys488_Ile496delinsAsn
ENST00000673947.1:c.*2336_*2359del	ENSP00000501304.1:n.*2336_*2359del
ENST00000673972.1:c.*2074_*2097del	ENSP00000501281.1:n.*2074_*2097del
ENST00000674019.1:c.1473_1496del	ENSP00000501081.1:p.Lys491_Ile499delinsAsn
ENST00000674111.1:c.*425_*448del	ENSP00000501162.1:n.*425_*448del
ENST00000674125.1:n.907_930del
ENST00000231790.6:c.2196_2219del	ENSP00000231790.2:p.Lys732_Ile740delinsAsn
ENST00000435176.5:c.1902_1925del	ENSP00000402564.1:p.Lys634_Ile642delinsAsn
ENST00000455445.6:c.1473_1496del	ENSP00000398272.2:p.Lys491_Ile499delinsAsn
ENST00000456676.6:c.1964_1987del
ENST00000458205.6:c.1473_1496del	ENSP00000402667.2:p.Lys491_Ile499delinsAsn
ENST00000536378.5:c.1473_1496del	ENSP00000444286.2:p.Lys491_Ile499delinsAsn
ENST00000539477.5:c.1473_1496del	ENSP00000443665.1:p.Lys491_Ile499delinsAsn
NM_000249.3:c.2196_2219del , LRG_216t1:c.2196_2219del	NP_000240.1:p.Lys732_Ile740delinsAsn
NM_001167617.1:c.1902_1925del	NP_001161089.1:p.Lys634_Ile642delinsAsn
NM_001167618.1:c.1473_1496del	NP_001161090.1:p.Lys491_Ile499delinsAsn
NM_001167619.1:c.1473_1496del	NP_001161091.1:p.Lys491_Ile499delinsAsn
NM_001258271.1:c.1989_2012del	NP_001245200.1:p.Lys663_Ile671delinsAsn
NM_001258273.1:c.1473_1496del	NP_001245202.1:p.Lys491_Ile499delinsAsn
NM_001258274.1:c.1473_1496del	NP_001245203.1:p.Lys491_Ile499delinsAsn
XM_005265161.1:c.1989_2012del	XP_005265218.1:p.Lys663_Ile671delinsAsn
XM_005265163.1:c.1473_1496del	XP_005265220.1:p.Lys491_Ile499delinsAsn
XM_005265164.1:c.1473_1496del	XP_005265221.1:p.Lys491_Ile499delinsAsn
XM_005265166.1:c.1173_1196del	XP_005265223.1:p.Lys391_Ile399delinsAsn
XM_011533727.1:c.1122_1145del	XP_011532029.1:p.Lys374_Ile382delinsAsn
NM_001167617.2:c.1902_1925del	NP_001161089.1:p.Lys634_Ile642delinsAsn
NM_001167618.2:c.1473_1496del	NP_001161090.1:p.Lys491_Ile499delinsAsn
NM_001167619.2:c.1473_1496del	NP_001161091.1:p.Lys491_Ile499delinsAsn
NM_001258274.2:c.1473_1496del	NP_001245203.1:p.Lys491_Ile499delinsAsn
NM_001354615.1:c.1473_1496del	NP_001341544.1:p.Lys491_Ile499delinsAsn
NM_001354616.1:c.1473_1496del	NP_001341545.1:p.Lys491_Ile499delinsAsn
NM_001354617.1:c.1473_1496del	NP_001341546.1:p.Lys491_Ile499delinsAsn
NM_001354618.1:c.1473_1496del	NP_001341547.1:p.Lys491_Ile499delinsAsn
NM_001354619.1:c.1473_1496del	NP_001341548.1:p.Lys491_Ile499delinsAsn
NM_001354620.1:c.1902_1925del	NP_001341549.1:p.Lys634_Ile642delinsAsn
NM_001354621.1:c.1173_1196del	NP_001341550.1:p.Lys391_Ile399delinsAsn
NM_001354622.1:c.1173_1196del	NP_001341551.1:p.Lys391_Ile399delinsAsn
NM_001354623.1:c.1173_1196del	NP_001341552.1:p.Lys391_Ile399delinsAsn
NM_001354624.1:c.1122_1145del	NP_001341553.1:p.Lys374_Ile382delinsAsn
NM_001354625.1:c.1122_1145del	NP_001341554.1:p.Lys374_Ile382delinsAsn
NM_001354626.1:c.1122_1145del	NP_001341555.1:p.Lys374_Ile382delinsAsn
NM_001354627.1:c.1122_1145del	NP_001341556.1:p.Lys374_Ile382delinsAsn
NM_001354628.1:c.2103_2126del	NP_001341557.1:p.Lys701_Ile709delinsAsn
NM_001354629.1:c.2097_2120del	NP_001341558.1:p.Lys699_Ile707delinsAsn
NM_001354630.1:c.2031_2054del	NP_001341559.1:p.Lys677_Ile685delinsAsn
XM_005265161.2:c.1989_2012del	XP_005265218.1:p.Lys663_Ile671delinsAsn
XM_017006450.2:c.1173_1196del	XP_016861939.1:p.Lys391_Ile399delinsAsn
NM_000249.4:c.2196_2219del MANE Select	NP_000240.1:p.Lys732_Ile740delinsAsn
NM_001167617.3:c.1902_1925del	NP_001161089.1:p.Lys634_Ile642delinsAsn
NM_001167618.3:c.1473_1496del	NP_001161090.1:p.Lys491_Ile499delinsAsn
NM_001167619.3:c.1473_1496del	NP_001161091.1:p.Lys491_Ile499delinsAsn
NM_001258271.2:c.1989_2012del	NP_001245200.1:p.Lys663_Ile671delinsAsn
NM_001258273.2:c.1473_1496del	NP_001245202.1:p.Lys491_Ile499delinsAsn
NM_001258274.3:c.1473_1496del	NP_001245203.1:p.Lys491_Ile499delinsAsn
NM_001354615.2:c.1473_1496del	NP_001341544.1:p.Lys491_Ile499delinsAsn
NM_001354616.2:c.1473_1496del	NP_001341545.1:p.Lys491_Ile499delinsAsn
NM_001354617.2:c.1473_1496del	NP_001341546.1:p.Lys491_Ile499delinsAsn
NM_001354618.2:c.1473_1496del	NP_001341547.1:p.Lys491_Ile499delinsAsn
NM_001354619.2:c.1473_1496del	NP_001341548.1:p.Lys491_Ile499delinsAsn
NM_001354620.2:c.1902_1925del	NP_001341549.1:p.Lys634_Ile642delinsAsn
NM_001354621.2:c.1173_1196del	NP_001341550.1:p.Lys391_Ile399delinsAsn
NM_001354622.2:c.1173_1196del	NP_001341551.1:p.Lys391_Ile399delinsAsn
NM_001354623.2:c.1173_1196del	NP_001341552.1:p.Lys391_Ile399delinsAsn
NM_001354624.2:c.1122_1145del	NP_001341553.1:p.Lys374_Ile382delinsAsn
NM_001354625.2:c.1122_1145del	NP_001341554.1:p.Lys374_Ile382delinsAsn
NM_001354626.2:c.1122_1145del	NP_001341555.1:p.Lys374_Ile382delinsAsn
NM_001354627.2:c.1122_1145del	NP_001341556.1:p.Lys374_Ile382delinsAsn
NM_001354628.2:c.2103_2126del	NP_001341557.1:p.Lys701_Ile709delinsAsn
NM_001354629.2:c.2097_2120del	NP_001341558.1:p.Lys699_Ile707delinsAsn
NM_001354630.2:c.2031_2054del	NP_001341559.1:p.Lys677_Ile685delinsAsn