Canonical Allele Identifier: CA2580069581

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1999726
• ClinVar RCV Id: RCV002819809

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37007025_37007583delinsGCTTTCCCC , CM000665.2:g.37007025_37007583delinsGCTTTCCCC	GRCh38
NC_000003.11:g.37048516_37049074delinsGCTTTCCCC , CM000665.1:g.37048516_37049074delinsGCTTTCCCC	GRCh37
NC_000003.10:g.37023520_37024078delinsGCTTTCCCC	NCBI36
NG_007109.2:g.18676_19234delinsGCTTTCCCC , LRG_216:g.18676_19234delinsGCTTTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.415_453+520delinsGCTTTCCCC
ENST00000429117.6:c.121_159+520delinsGCTTTCCCC
ENST00000450420.6:c.415_453+520delinsGCTTTCCCC
ENST00000456676.7:c.415_453+520delinsGCTTTCCCC
ENST00000458009.6:c.415_453+520delinsGCTTTCCCC
ENST00000492474.6:c.-309_-271+520delinsGCTTTCCCC
ENST00000616768.6:c.415_453+520delinsGCTTTCCCC
ENST00000673673.2:c.415_453+520delinsGCTTTCCCC
ENST00000231790.8:c.415_453+520delinsGCTTTCCCC
ENST00000413212.2:c.-309_-271+520delinsGCTTTCCCC
ENST00000432299.6:c.*495_*533+520delinsGCTTTCCCC
ENST00000441265.6:c.-309_-271+520delinsGCTTTCCCC
ENST00000442249.6:n.430_468+520delinsGCTTTCCCC
ENST00000447829.6:c.52_90+520delinsGCTTTCCCC
ENST00000539477.6:c.-217_-179+520delinsGCTTTCCCC
ENST00000673673.1:c.368_406+520delinsGCTTTCCCC
ENST00000673713.1:n.446_484+520delinsGCTTTCCCC
ENST00000673715.1:c.415_453+520delinsGCTTTCCCC
ENST00000673897.1:c.*207_*245+520delinsGCTTTCCCC
ENST00000673899.1:c.415_453+520delinsGCTTTCCCC
ENST00000673947.1:c.*555_*593+520delinsGCTTTCCCC
ENST00000673972.1:c.*293_*331+520delinsGCTTTCCCC
ENST00000673990.1:n.400_438+520delinsGCTTTCCCC
ENST00000674019.1:c.-309_-271+520delinsGCTTTCCCC
ENST00000674107.1:n.357_395+520delinsGCTTTCCCC
ENST00000674111.1:c.415_453+520delinsGCTTTCCCC
ENST00000231790.6:c.415_453+520delinsGCTTTCCCC
ENST00000429117.5:c.121_159+520delinsGCTTTCCCC
ENST00000432299.5:c.*495_*533+520delinsGCTTTCCCC
ENST00000435176.5:c.121_159+520delinsGCTTTCCCC
ENST00000441265.5:c.-217_-179+520delinsGCTTTCCCC
ENST00000442249.5:c.*207_*245+520delinsGCTTTCCCC
ENST00000454028.5:c.*288_*326+520delinsGCTTTCCCC
ENST00000455445.6:c.-309_-271+520delinsGCTTTCCCC
ENST00000456676.6:c.390_428+520delinsGCTTTCCCC
ENST00000457004.5:c.*194_*232+520delinsGCTTTCCCC
ENST00000458205.6:c.-309_-271+520delinsGCTTTCCCC
ENST00000466900.5:n.448_486+520delinsGCTTTCCCC
ENST00000485889.1:n.419_457+520delinsGCTTTCCCC
ENST00000492474.5:n.438_476+520delinsGCTTTCCCC
ENST00000536378.5:c.-309_-271+520delinsGCTTTCCCC
ENST00000539477.5:c.-217_-179+520delinsGCTTTCCCC
NM_000249.3:c.415_453+520delinsGCTTTCCCC , LRG_216t1:c.415_453+520delinsGCTTTCCCC
NM_001167617.1:c.121_159+520delinsGCTTTCCCC
NM_001167618.1:c.-309_-271+520delinsGCTTTCCCC
NM_001167619.1:c.-217_-179+520delinsGCTTTCCCC
NM_001258271.1:c.415_453+520delinsGCTTTCCCC
NM_001258273.1:c.-309_-271+520delinsGCTTTCCCC
NM_001258274.1:c.-309_-271+520delinsGCTTTCCCC
XM_005265161.1:c.415_453+520delinsGCTTTCCCC
XM_005265163.1:c.-309_-271+520delinsGCTTTCCCC
XM_005265164.1:c.-309_-271+520delinsGCTTTCCCC
XM_005265166.1:c.-515_-477+520delinsGCTTTCCCC
XM_011533727.1:c.-412_-374+520delinsGCTTTCCCC
NM_001167617.2:c.121_159+520delinsGCTTTCCCC
NM_001167618.2:c.-309_-271+520delinsGCTTTCCCC
NM_001167619.2:c.-217_-179+520delinsGCTTTCCCC
NM_001258274.2:c.-309_-271+520delinsGCTTTCCCC
NM_001354615.1:c.-217_-179+520delinsGCTTTCCCC
NM_001354616.1:c.-217_-179+520delinsGCTTTCCCC
NM_001354617.1:c.-309_-271+520delinsGCTTTCCCC
NM_001354618.1:c.-309_-271+520delinsGCTTTCCCC
NM_001354619.1:c.-309_-271+520delinsGCTTTCCCC
NM_001354620.1:c.121_159+520delinsGCTTTCCCC
NM_001354621.1:c.-402_-364+520delinsGCTTTCCCC
NM_001354622.1:c.-515_-477+520delinsGCTTTCCCC
NM_001354623.1:c.-515_-477+520delinsGCTTTCCCC
NM_001354624.1:c.-412_-374+520delinsGCTTTCCCC
NM_001354625.1:c.-320_-282+520delinsGCTTTCCCC
NM_001354626.1:c.-412_-374+520delinsGCTTTCCCC
NM_001354627.1:c.-412_-374+520delinsGCTTTCCCC
NM_001354628.1:c.415_453+520delinsGCTTTCCCC
NM_001354629.1:c.316_354+520delinsGCTTTCCCC
NM_001354630.1:c.415_453+520delinsGCTTTCCCC
XM_005265161.2:c.415_453+520delinsGCTTTCCCC
XM_017006450.2:c.-402_-364+520delinsGCTTTCCCC
NM_000249.4:c.415_453+520delinsGCTTTCCCC
NM_001167617.3:c.121_159+520delinsGCTTTCCCC
NM_001167618.3:c.-309_-271+520delinsGCTTTCCCC
NM_001167619.3:c.-217_-179+520delinsGCTTTCCCC
NM_001258271.2:c.415_453+520delinsGCTTTCCCC
NM_001258273.2:c.-309_-271+520delinsGCTTTCCCC
NM_001258274.3:c.-309_-271+520delinsGCTTTCCCC
NM_001354615.2:c.-217_-179+520delinsGCTTTCCCC
NM_001354616.2:c.-217_-179+520delinsGCTTTCCCC
NM_001354617.2:c.-309_-271+520delinsGCTTTCCCC
NM_001354618.2:c.-309_-271+520delinsGCTTTCCCC
NM_001354619.2:c.-309_-271+520delinsGCTTTCCCC
NM_001354620.2:c.121_159+520delinsGCTTTCCCC
NM_001354621.2:c.-402_-364+520delinsGCTTTCCCC
NM_001354622.2:c.-515_-477+520delinsGCTTTCCCC
NM_001354623.2:c.-515_-477+520delinsGCTTTCCCC
NM_001354624.2:c.-412_-374+520delinsGCTTTCCCC
NM_001354625.2:c.-320_-282+520delinsGCTTTCCCC
NM_001354626.2:c.-412_-374+520delinsGCTTTCCCC
NM_001354627.2:c.-412_-374+520delinsGCTTTCCCC
NM_001354628.2:c.415_453+520delinsGCTTTCCCC
NM_001354629.2:c.316_354+520delinsGCTTTCCCC
NM_001354630.2:c.415_453+520delinsGCTTTCCCC