Canonical Allele Identifier: CA2580069542

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1781439
• ClinVar RCV Id: RCV002413126

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37047645_37047652dup , CM000665.2:g.37047645_37047652dup	GRCh38
NC_000003.11:g.37089136_37089143dup , CM000665.1:g.37089136_37089143dup	GRCh37
NC_000003.10:g.37064140_37064147dup	NCBI36
NG_007109.2:g.59296_59303dup , LRG_216:g.59296_59303dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-2841_1668-2834dup	ENSP00000416476.2:n.1668-2841_1668-2834dup
ENST00000429117.6:c.1564_1571dup	ENSP00000407019.2:p.Ala525ArgfsTer17
ENST00000450420.6:c.1559-2841_1559-2834dup	ENSP00000393006.2:n.1559-2841_1559-2834dup
ENST00000456676.7:c.1858_1865dup	ENSP00000416687.3:p.Ala623ArgfsTer?
ENST00000492474.6:c.1135_1142dup	ENSP00000518393.1:p.Ala382ArgfsTer17
ENST00000616768.6:c.1858_1865dup	ENSP00000480669.3:p.Ala623ArgfsTer14
ENST00000673673.2:c.1732-872_1732-865dup	ENSP00000500979.2:n.1732-872_1732-865dup
ENST00000231790.8:c.1858_1865dup MANE Select	ENSP00000231790.3:p.Ala623ArgfsTer17
ENST00000413212.2:c.*776_*783dup	ENSP00000400844.2:n.*776_*783dup
ENST00000432299.6:c.*1690_*1697dup	ENSP00000416783.1:n.*1690_*1697dup
ENST00000441265.6:c.*87_*94dup	ENSP00000398392.2:n.*87_*94dup
ENST00000447829.6:c.*969_*976dup	ENSP00000399329.2:n.*969_*976dup
ENST00000539477.6:c.1135_1142dup	ENSP00000443665.1:p.Ala382ArgfsTer17
ENST00000616768.5:c.895_902dup	ENSP00000480669.2:p.Ala302ArgfsTer14
ENST00000673673.1:c.1685-872_1685-865dup
ENST00000673715.1:c.1858_1865dup	ENSP00000501301.1:p.Ala623ArgfsTer27
ENST00000673741.1:n.892_899dup
ENST00000673889.1:n.1240_1247dup
ENST00000673897.1:c.*1650_*1657dup	ENSP00000501109.1:n.*1650_*1657dup
ENST00000673899.1:c.1126_1133dup	ENSP00000501030.1:p.Ala379ArgfsTer17
ENST00000673947.1:c.*1998_*2005dup	ENSP00000501304.1:n.*1998_*2005dup
ENST00000673972.1:c.*1736_*1743dup	ENSP00000501281.1:n.*1736_*1743dup
ENST00000674019.1:c.1135_1142dup	ENSP00000501081.1:p.Ala382ArgfsTer17
ENST00000674111.1:c.*87_*94dup	ENSP00000501162.1:n.*87_*94dup
ENST00000674125.1:n.569_576dup
ENST00000231790.6:c.1858_1865dup	ENSP00000231790.2:p.Ala623ArgfsTer17
ENST00000413740.1:c.291-2841_291-2834dup	ENSP00000416476.1:n.291-2841_291-2834dup
ENST00000435176.5:c.1564_1571dup	ENSP00000402564.1:p.Ala525ArgfsTer17
ENST00000450420.5:c.182-2841_182-2834dup	ENSP00000393006.1:n.182-2841_182-2834dup
ENST00000455445.6:c.1135_1142dup	ENSP00000398272.2:p.Ala382ArgfsTer17
ENST00000456676.6:c.1833_1840dup
ENST00000458205.6:c.1135_1142dup	ENSP00000402667.2:p.Ala382ArgfsTer17
ENST00000536378.5:c.1135_1142dup	ENSP00000444286.2:p.Ala382ArgfsTer17
ENST00000539477.5:c.1135_1142dup	ENSP00000443665.1:p.Ala382ArgfsTer17
ENST00000616768.4:c.626_633dup
NM_000249.3:c.1858_1865dup , LRG_216t1:c.1858_1865dup	NP_000240.1:p.Ala623ArgfsTer17
NM_001167617.1:c.1564_1571dup	NP_001161089.1:p.Ala525ArgfsTer17
NM_001167618.1:c.1135_1142dup	NP_001161090.1:p.Ala382ArgfsTer17
NM_001167619.1:c.1135_1142dup	NP_001161091.1:p.Ala382ArgfsTer17
NM_001258271.1:c.1858_1865dup	NP_001245200.1:p.Ala623ArgfsTer?
NM_001258273.1:c.1135_1142dup	NP_001245202.1:p.Ala382ArgfsTer17
NM_001258274.1:c.1135_1142dup	NP_001245203.1:p.Ala382ArgfsTer17
XM_005265161.1:c.1651_1658dup	XP_005265218.1:p.Ala554ArgfsTer17
XM_005265163.1:c.1135_1142dup	XP_005265220.1:p.Ala382ArgfsTer17
XM_005265164.1:c.1135_1142dup	XP_005265221.1:p.Ala382ArgfsTer17
XM_005265166.1:c.835_842dup	XP_005265223.1:p.Ala282ArgfsTer17
XM_011533727.1:c.784_791dup	XP_011532029.1:p.Ala265ArgfsTer17
NM_001167617.2:c.1564_1571dup	NP_001161089.1:p.Ala525ArgfsTer17
NM_001167618.2:c.1135_1142dup	NP_001161090.1:p.Ala382ArgfsTer17
NM_001167619.2:c.1135_1142dup	NP_001161091.1:p.Ala382ArgfsTer17
NM_001258274.2:c.1135_1142dup	NP_001245203.1:p.Ala382ArgfsTer17
NM_001354615.1:c.1135_1142dup	NP_001341544.1:p.Ala382ArgfsTer17
NM_001354616.1:c.1135_1142dup	NP_001341545.1:p.Ala382ArgfsTer17
NM_001354617.1:c.1135_1142dup	NP_001341546.1:p.Ala382ArgfsTer17
NM_001354618.1:c.1135_1142dup	NP_001341547.1:p.Ala382ArgfsTer17
NM_001354619.1:c.1135_1142dup	NP_001341548.1:p.Ala382ArgfsTer17
NM_001354620.1:c.1564_1571dup	NP_001341549.1:p.Ala525ArgfsTer17
NM_001354621.1:c.835_842dup	NP_001341550.1:p.Ala282ArgfsTer17
NM_001354622.1:c.835_842dup	NP_001341551.1:p.Ala282ArgfsTer17
NM_001354623.1:c.835_842dup	NP_001341552.1:p.Ala282ArgfsTer17
NM_001354624.1:c.784_791dup	NP_001341553.1:p.Ala265ArgfsTer17
NM_001354625.1:c.784_791dup	NP_001341554.1:p.Ala265ArgfsTer17
NM_001354626.1:c.784_791dup	NP_001341555.1:p.Ala265ArgfsTer17
NM_001354627.1:c.784_791dup	NP_001341556.1:p.Ala265ArgfsTer17
NM_001354628.1:c.1858_1865dup	NP_001341557.1:p.Ala623ArgfsTer14
NM_001354629.1:c.1759_1766dup	NP_001341558.1:p.Ala590ArgfsTer17
NM_001354630.1:c.1732-872_1732-865dup	NP_001341559.1:n.1732-872_1732-865dup
XM_005265161.2:c.1651_1658dup	XP_005265218.1:p.Ala554ArgfsTer17
XM_017006450.2:c.835_842dup	XP_016861939.1:p.Ala282ArgfsTer17
NM_000249.4:c.1858_1865dup MANE Select	NP_000240.1:p.Ala623ArgfsTer17
NM_001167617.3:c.1564_1571dup	NP_001161089.1:p.Ala525ArgfsTer17
NM_001167618.3:c.1135_1142dup	NP_001161090.1:p.Ala382ArgfsTer17
NM_001167619.3:c.1135_1142dup	NP_001161091.1:p.Ala382ArgfsTer17
NM_001258271.2:c.1858_1865dup	NP_001245200.1:p.Ala623ArgfsTer?
NM_001258273.2:c.1135_1142dup	NP_001245202.1:p.Ala382ArgfsTer17
NM_001258274.3:c.1135_1142dup	NP_001245203.1:p.Ala382ArgfsTer17
NM_001354615.2:c.1135_1142dup	NP_001341544.1:p.Ala382ArgfsTer17
NM_001354616.2:c.1135_1142dup	NP_001341545.1:p.Ala382ArgfsTer17
NM_001354617.2:c.1135_1142dup	NP_001341546.1:p.Ala382ArgfsTer17
NM_001354618.2:c.1135_1142dup	NP_001341547.1:p.Ala382ArgfsTer17
NM_001354619.2:c.1135_1142dup	NP_001341548.1:p.Ala382ArgfsTer17
NM_001354620.2:c.1564_1571dup	NP_001341549.1:p.Ala525ArgfsTer17
NM_001354621.2:c.835_842dup	NP_001341550.1:p.Ala282ArgfsTer17
NM_001354622.2:c.835_842dup	NP_001341551.1:p.Ala282ArgfsTer17
NM_001354623.2:c.835_842dup	NP_001341552.1:p.Ala282ArgfsTer17
NM_001354624.2:c.784_791dup	NP_001341553.1:p.Ala265ArgfsTer17
NM_001354625.2:c.784_791dup	NP_001341554.1:p.Ala265ArgfsTer17
NM_001354626.2:c.784_791dup	NP_001341555.1:p.Ala265ArgfsTer17
NM_001354627.2:c.784_791dup	NP_001341556.1:p.Ala265ArgfsTer17
NM_001354628.2:c.1858_1865dup	NP_001341557.1:p.Ala623ArgfsTer14
NM_001354629.2:c.1759_1766dup	NP_001341558.1:p.Ala590ArgfsTer17
NM_001354630.2:c.1732-872_1732-865dup	NP_001341559.1:n.1732-872_1732-865dup