Canonical Allele Identifier: CA2580069590

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1760221
• ClinVar RCV Id: RCV002400597

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37014524_37014626delinsA , CM000665.2:g.37014524_37014626delinsA	GRCh38
NC_000003.11:g.37056015_37056117delinsA , CM000665.1:g.37056015_37056117delinsA	GRCh37
NC_000003.10:g.37031019_37031121delinsA	NCBI36
NG_007109.2:g.26175_26277delinsA , LRG_216:g.26175_26277delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.770_790+82delinsA
ENST00000429117.6:c.476_496+82delinsA
ENST00000450420.6:c.770_790+82delinsA
ENST00000456676.7:c.770_790+82delinsA
ENST00000458009.6:c.770_790+82delinsA
ENST00000492474.6:c.47_67+82delinsA
ENST00000616768.6:c.770_790+82delinsA
ENST00000673673.2:c.770_790+82delinsA
ENST00000231790.8:c.770_790+82delinsA
ENST00000413212.2:c.47_67+82delinsA
ENST00000432299.6:c.*850_*870+82delinsA
ENST00000441265.6:c.47_67+82delinsA
ENST00000442249.6:n.692+2425_692+2527delinsA
ENST00000447829.6:c.407_427+82delinsA
ENST00000539477.6:c.47_67+82delinsA
ENST00000673673.1:c.723_743+82delinsA
ENST00000673713.1:n.801_821+82delinsA
ENST00000673715.1:c.770_790+82delinsA
ENST00000673897.1:c.*562_*582+82delinsA
ENST00000673899.1:c.677+2425_677+2527delinsA	ENSP00000501030.1:n.677+2425_677+2527deli...
ENST00000673947.1:c.*910_*930+82delinsA
ENST00000673972.1:c.*648_*668+82delinsA
ENST00000673990.1:n.755_775+82delinsA
ENST00000674019.1:c.47_67+82delinsA
ENST00000674107.1:n.712_732+82delinsA
ENST00000674111.1:c.770_790+82delinsA
ENST00000231790.6:c.770_790+82delinsA
ENST00000413212.1:c.93_113+82delinsA
ENST00000435176.5:c.476_496+82delinsA
ENST00000441265.5:c.47_67+82delinsA
ENST00000447829.5:c.151_171+82delinsA
ENST00000455445.6:c.47_67+82delinsA
ENST00000456676.6:c.745_765+82delinsA
ENST00000458009.5:c.111_131+82delinsA
ENST00000458205.6:c.47_67+82delinsA
ENST00000536378.5:c.47_67+82delinsA
ENST00000539477.5:c.47_67+82delinsA
NM_000249.3:c.770_790+82delinsA , LRG_216t1:c.770_790+82delinsA
NM_001167617.1:c.476_496+82delinsA
NM_001167618.1:c.47_67+82delinsA
NM_001167619.1:c.47_67+82delinsA
NM_001258271.1:c.770_790+82delinsA
NM_001258273.1:c.47_67+82delinsA
NM_001258274.1:c.47_67+82delinsA
XM_005265161.1:c.677+2425_677+2527delinsA	XP_005265218.1:n.677+2425_677+2527delinsA...
XM_005265163.1:c.47_67+82delinsA
XM_005265164.1:c.47_67+82delinsA
XM_005265166.1:c.-160_-140+82delinsA
XM_011533727.1:c.-57_-37+82delinsA
NM_001167617.2:c.476_496+82delinsA
NM_001167618.2:c.47_67+82delinsA
NM_001167619.2:c.47_67+82delinsA
NM_001258274.2:c.47_67+82delinsA
NM_001354615.1:c.47_67+82delinsA
NM_001354616.1:c.47_67+82delinsA
NM_001354617.1:c.47_67+82delinsA
NM_001354618.1:c.47_67+82delinsA
NM_001354619.1:c.47_67+82delinsA
NM_001354620.1:c.476_496+82delinsA
NM_001354621.1:c.-140+2425_-140+2527delinsA	NP_001341550.1:n.-140+2425_-140+2527delin...
NM_001354622.1:c.-160_-140+82delinsA
NM_001354623.1:c.-160_-140+82delinsA
NM_001354624.1:c.-57_-37+82delinsA
NM_001354625.1:c.-57_-37+82delinsA
NM_001354626.1:c.-57_-37+82delinsA
NM_001354627.1:c.-57_-37+82delinsA
NM_001354628.1:c.770_790+82delinsA
NM_001354629.1:c.671_691+82delinsA
NM_001354630.1:c.770_790+82delinsA
XM_005265161.2:c.677+2425_677+2527delinsA	XP_005265218.1:n.677+2425_677+2527delinsA...
XM_017006450.2:c.-140+2425_-140+2527delinsA	XP_016861939.1:n.-140+2425_-140+2527delin...
NM_000249.4:c.770_790+82delinsA
NM_001167617.3:c.476_496+82delinsA
NM_001167618.3:c.47_67+82delinsA
NM_001167619.3:c.47_67+82delinsA
NM_001258271.2:c.770_790+82delinsA
NM_001258273.2:c.47_67+82delinsA
NM_001258274.3:c.47_67+82delinsA
NM_001354615.2:c.47_67+82delinsA
NM_001354616.2:c.47_67+82delinsA
NM_001354617.2:c.47_67+82delinsA
NM_001354618.2:c.47_67+82delinsA
NM_001354619.2:c.47_67+82delinsA
NM_001354620.2:c.476_496+82delinsA
NM_001354621.2:c.-140+2425_-140+2527delinsA	NP_001341550.1:n.-140+2425_-140+2527delin...
NM_001354622.2:c.-160_-140+82delinsA
NM_001354623.2:c.-160_-140+82delinsA
NM_001354624.2:c.-57_-37+82delinsA
NM_001354625.2:c.-57_-37+82delinsA
NM_001354626.2:c.-57_-37+82delinsA
NM_001354627.2:c.-57_-37+82delinsA
NM_001354628.2:c.770_790+82delinsA
NM_001354629.2:c.671_691+82delinsA
NM_001354630.2:c.770_790+82delinsA