Canonical Allele Identifier: CA2580069527

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1786014
• ClinVar RCV Id: RCV002424326 ; RCV003454325

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050491_37050494dup , CM000665.2:g.37050491_37050494dup	GRCh38
NC_000003.11:g.37091982_37091985dup , CM000665.1:g.37091982_37091985dup	GRCh37
NC_000003.10:g.37066986_37066989dup	NCBI36
NG_007109.2:g.62142_62145dup , LRG_216:g.62142_62145dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1673_1676dup	ENSP00000416476.2:p.Cys559Ter
ENST00000429117.6:c.1815_1818dup	ENSP00000407019.2:p.Pro607SerfsTer19
ENST00000450420.6:c.*1_*4dup	ENSP00000393006.2:n.*1_*4dup
ENST00000456676.7:c.1902_1905dup	ENSP00000416687.3:p.Pro636SerfsTer19
ENST00000492474.6:c.1386_1389dup	ENSP00000518393.1:p.Pro464SerfsTer19
ENST00000616768.6:c.2016_2019dup	ENSP00000480669.3:p.Pro674SerfsTer19
ENST00000673673.2:c.1944_1947dup	ENSP00000500979.2:p.Pro650SerfsTer19
ENST00000231790.8:c.2109_2112dup MANE Select	ENSP00000231790.3:p.Pro705SerfsTer19
ENST00000413212.2:c.*1027_*1030dup	ENSP00000400844.2:n.*1027_*1030dup
ENST00000432299.6:c.*1941_*1944dup	ENSP00000416783.1:n.*1941_*1944dup
ENST00000447829.6:c.*1220_*1223dup	ENSP00000399329.2:n.*1220_*1223dup
ENST00000539477.6:c.1386_1389dup	ENSP00000443665.1:p.Pro464SerfsTer19
ENST00000616768.5:c.1053_1056dup	ENSP00000480669.2:p.Pro353SerfsTer19
ENST00000673673.1:c.1897_1900dup
ENST00000673741.1:n.1143_1146dup
ENST00000673889.1:n.1491_1494dup
ENST00000673897.1:c.*1901_*1904dup	ENSP00000501109.1:n.*1901_*1904dup
ENST00000673899.1:c.1377_1380dup	ENSP00000501030.1:p.Pro461SerfsTer19
ENST00000673947.1:c.*2249_*2252dup	ENSP00000501304.1:n.*2249_*2252dup
ENST00000673972.1:c.*1987_*1990dup	ENSP00000501281.1:n.*1987_*1990dup
ENST00000674019.1:c.1386_1389dup	ENSP00000501081.1:p.Pro464SerfsTer19
ENST00000674111.1:c.*338_*341dup	ENSP00000501162.1:n.*338_*341dup
ENST00000674125.1:n.820_823dup
ENST00000231790.6:c.2109_2112dup	ENSP00000231790.2:p.Pro705SerfsTer19
ENST00000413740.1:c.296_299dup	ENSP00000416476.1:p.Cys100Ter
ENST00000435176.5:c.1815_1818dup	ENSP00000402564.1:p.Pro607SerfsTer19
ENST00000450420.5:c.187_190dup	ENSP00000393006.1:n.187_190dup
ENST00000455445.6:c.1386_1389dup	ENSP00000398272.2:p.Pro464SerfsTer19
ENST00000456676.6:c.1877_1880dup
ENST00000458205.6:c.1386_1389dup	ENSP00000402667.2:p.Pro464SerfsTer19
ENST00000536378.5:c.1386_1389dup	ENSP00000444286.2:p.Pro464SerfsTer19
ENST00000539477.5:c.1386_1389dup	ENSP00000443665.1:p.Pro464SerfsTer19
NM_000249.3:c.2109_2112dup , LRG_216t1:c.2109_2112dup	NP_000240.1:p.Pro705SerfsTer19
NM_001167617.1:c.1815_1818dup	NP_001161089.1:p.Pro607SerfsTer19
NM_001167618.1:c.1386_1389dup	NP_001161090.1:p.Pro464SerfsTer19
NM_001167619.1:c.1386_1389dup	NP_001161091.1:p.Pro464SerfsTer19
NM_001258271.1:c.1902_1905dup	NP_001245200.1:p.Pro636SerfsTer19
NM_001258273.1:c.1386_1389dup	NP_001245202.1:p.Pro464SerfsTer19
NM_001258274.1:c.1386_1389dup	NP_001245203.1:p.Pro464SerfsTer19
XM_005265161.1:c.1902_1905dup	XP_005265218.1:p.Pro636SerfsTer19
XM_005265163.1:c.1386_1389dup	XP_005265220.1:p.Pro464SerfsTer19
XM_005265164.1:c.1386_1389dup	XP_005265221.1:p.Pro464SerfsTer19
XM_005265166.1:c.1086_1089dup	XP_005265223.1:p.Pro364SerfsTer19
XM_011533727.1:c.1035_1038dup	XP_011532029.1:p.Pro347SerfsTer19
NM_001167617.2:c.1815_1818dup	NP_001161089.1:p.Pro607SerfsTer19
NM_001167618.2:c.1386_1389dup	NP_001161090.1:p.Pro464SerfsTer19
NM_001167619.2:c.1386_1389dup	NP_001161091.1:p.Pro464SerfsTer19
NM_001258274.2:c.1386_1389dup	NP_001245203.1:p.Pro464SerfsTer19
NM_001354615.1:c.1386_1389dup	NP_001341544.1:p.Pro464SerfsTer19
NM_001354616.1:c.1386_1389dup	NP_001341545.1:p.Pro464SerfsTer19
NM_001354617.1:c.1386_1389dup	NP_001341546.1:p.Pro464SerfsTer19
NM_001354618.1:c.1386_1389dup	NP_001341547.1:p.Pro464SerfsTer19
NM_001354619.1:c.1386_1389dup	NP_001341548.1:p.Pro464SerfsTer19
NM_001354620.1:c.1815_1818dup	NP_001341549.1:p.Pro607SerfsTer19
NM_001354621.1:c.1086_1089dup	NP_001341550.1:p.Pro364SerfsTer19
NM_001354622.1:c.1086_1089dup	NP_001341551.1:p.Pro364SerfsTer19
NM_001354623.1:c.1086_1089dup	NP_001341552.1:p.Pro364SerfsTer19
NM_001354624.1:c.1035_1038dup	NP_001341553.1:p.Pro347SerfsTer19
NM_001354625.1:c.1035_1038dup	NP_001341554.1:p.Pro347SerfsTer19
NM_001354626.1:c.1035_1038dup	NP_001341555.1:p.Pro347SerfsTer19
NM_001354627.1:c.1035_1038dup	NP_001341556.1:p.Pro347SerfsTer19
NM_001354628.1:c.2016_2019dup	NP_001341557.1:p.Pro674SerfsTer19
NM_001354629.1:c.2010_2013dup	NP_001341558.1:p.Pro672SerfsTer19
NM_001354630.1:c.1944_1947dup	NP_001341559.1:p.Pro650SerfsTer19
XM_005265161.2:c.1902_1905dup	XP_005265218.1:p.Pro636SerfsTer19
XM_017006450.2:c.1086_1089dup	XP_016861939.1:p.Pro364SerfsTer19
NM_000249.4:c.2109_2112dup MANE Select	NP_000240.1:p.Pro705SerfsTer19
NM_001167617.3:c.1815_1818dup	NP_001161089.1:p.Pro607SerfsTer19
NM_001167618.3:c.1386_1389dup	NP_001161090.1:p.Pro464SerfsTer19
NM_001167619.3:c.1386_1389dup	NP_001161091.1:p.Pro464SerfsTer19
NM_001258271.2:c.1902_1905dup	NP_001245200.1:p.Pro636SerfsTer19
NM_001258273.2:c.1386_1389dup	NP_001245202.1:p.Pro464SerfsTer19
NM_001258274.3:c.1386_1389dup	NP_001245203.1:p.Pro464SerfsTer19
NM_001354615.2:c.1386_1389dup	NP_001341544.1:p.Pro464SerfsTer19
NM_001354616.2:c.1386_1389dup	NP_001341545.1:p.Pro464SerfsTer19
NM_001354617.2:c.1386_1389dup	NP_001341546.1:p.Pro464SerfsTer19
NM_001354618.2:c.1386_1389dup	NP_001341547.1:p.Pro464SerfsTer19
NM_001354619.2:c.1386_1389dup	NP_001341548.1:p.Pro464SerfsTer19
NM_001354620.2:c.1815_1818dup	NP_001341549.1:p.Pro607SerfsTer19
NM_001354621.2:c.1086_1089dup	NP_001341550.1:p.Pro364SerfsTer19
NM_001354622.2:c.1086_1089dup	NP_001341551.1:p.Pro364SerfsTer19
NM_001354623.2:c.1086_1089dup	NP_001341552.1:p.Pro364SerfsTer19
NM_001354624.2:c.1035_1038dup	NP_001341553.1:p.Pro347SerfsTer19
NM_001354625.2:c.1035_1038dup	NP_001341554.1:p.Pro347SerfsTer19
NM_001354626.2:c.1035_1038dup	NP_001341555.1:p.Pro347SerfsTer19
NM_001354627.2:c.1035_1038dup	NP_001341556.1:p.Pro347SerfsTer19
NM_001354628.2:c.2016_2019dup	NP_001341557.1:p.Pro674SerfsTer19
NM_001354629.2:c.2010_2013dup	NP_001341558.1:p.Pro672SerfsTer19
NM_001354630.2:c.1944_1947dup	NP_001341559.1:p.Pro650SerfsTer19