Canonical Allele Identifier: CA2580069606

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1760969
• ClinVar RCV Id: RCV002412282 ; RCV003759157

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37014543_37014548del , CM000665.2:g.37014543_37014548del	GRCh38
NC_000003.11:g.37056034_37056039del , CM000665.1:g.37056034_37056039del	GRCh37
NC_000003.10:g.37031038_37031043del	NCBI36
NG_007109.2:g.26194_26199del , LRG_216:g.26194_26199del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.789_790+4del
ENST00000429117.6:c.495_496+4del
ENST00000450420.6:c.789_790+4del
ENST00000456676.7:c.789_790+4del
ENST00000458009.6:c.789_790+4del
ENST00000492474.6:c.66_67+4del
ENST00000616768.6:c.789_790+4del
ENST00000673673.2:c.789_790+4del
ENST00000231790.8:c.789_790+4del
ENST00000413212.2:c.66_67+4del
ENST00000432299.6:c.*869_*870+4del
ENST00000441265.6:c.66_67+4del
ENST00000442249.6:n.692+2444_692+2449del
ENST00000447829.6:c.426_427+4del
ENST00000539477.6:c.66_67+4del
ENST00000673673.1:c.742_743+4del
ENST00000673713.1:n.820_821+4del
ENST00000673715.1:c.789_790+4del
ENST00000673897.1:c.*581_*582+4del
ENST00000673899.1:c.677+2444_677+2449del	ENSP00000501030.1:n.677+2444_677+2449del
ENST00000673947.1:c.*929_*930+4del
ENST00000673972.1:c.*667_*668+4del
ENST00000673990.1:n.774_775+4del
ENST00000674019.1:c.66_67+4del
ENST00000674107.1:n.731_732+4del
ENST00000674111.1:c.789_790+4del
ENST00000231790.6:c.789_790+4del
ENST00000413212.1:c.112_113+4del
ENST00000435176.5:c.495_496+4del
ENST00000441265.5:c.66_67+4del
ENST00000447829.5:c.170_171+4del
ENST00000455445.6:c.66_67+4del
ENST00000456676.6:c.764_765+4del
ENST00000458009.5:c.130_131+4del
ENST00000458205.6:c.66_67+4del
ENST00000536378.5:c.66_67+4del
ENST00000539477.5:c.66_67+4del
NM_000249.3:c.789_790+4del , LRG_216t1:c.789_790+4del
NM_001167617.1:c.495_496+4del
NM_001167618.1:c.66_67+4del
NM_001167619.1:c.66_67+4del
NM_001258271.1:c.789_790+4del
NM_001258273.1:c.66_67+4del
NM_001258274.1:c.66_67+4del
XM_005265161.1:c.677+2444_677+2449del	XP_005265218.1:n.677+2444_677+2449del
XM_005265163.1:c.66_67+4del
XM_005265164.1:c.66_67+4del
XM_005265166.1:c.-141_-140+4del
XM_011533727.1:c.-38_-37+4del
NM_001167617.2:c.495_496+4del
NM_001167618.2:c.66_67+4del
NM_001167619.2:c.66_67+4del
NM_001258274.2:c.66_67+4del
NM_001354615.1:c.66_67+4del
NM_001354616.1:c.66_67+4del
NM_001354617.1:c.66_67+4del
NM_001354618.1:c.66_67+4del
NM_001354619.1:c.66_67+4del
NM_001354620.1:c.495_496+4del
NM_001354621.1:c.-140+2444_-140+2449del	NP_001341550.1:n.-140+2444_-140+2449del
NM_001354622.1:c.-141_-140+4del
NM_001354623.1:c.-141_-140+4del
NM_001354624.1:c.-38_-37+4del
NM_001354625.1:c.-38_-37+4del
NM_001354626.1:c.-38_-37+4del
NM_001354627.1:c.-38_-37+4del
NM_001354628.1:c.789_790+4del
NM_001354629.1:c.690_691+4del
NM_001354630.1:c.789_790+4del
XM_005265161.2:c.677+2444_677+2449del	XP_005265218.1:n.677+2444_677+2449del
XM_017006450.2:c.-140+2444_-140+2449del	XP_016861939.1:n.-140+2444_-140+2449del
NM_000249.4:c.789_790+4del
NM_001167617.3:c.495_496+4del
NM_001167618.3:c.66_67+4del
NM_001167619.3:c.66_67+4del
NM_001258271.2:c.789_790+4del
NM_001258273.2:c.66_67+4del
NM_001258274.3:c.66_67+4del
NM_001354615.2:c.66_67+4del
NM_001354616.2:c.66_67+4del
NM_001354617.2:c.66_67+4del
NM_001354618.2:c.66_67+4del
NM_001354619.2:c.66_67+4del
NM_001354620.2:c.495_496+4del
NM_001354621.2:c.-140+2444_-140+2449del	NP_001341550.1:n.-140+2444_-140+2449del
NM_001354622.2:c.-141_-140+4del
NM_001354623.2:c.-141_-140+4del
NM_001354624.2:c.-38_-37+4del
NM_001354625.2:c.-38_-37+4del
NM_001354626.2:c.-38_-37+4del
NM_001354627.2:c.-38_-37+4del
NM_001354628.2:c.789_790+4del
NM_001354629.2:c.690_691+4del
NM_001354630.2:c.789_790+4del