Canonical Allele Identifier: CA2581463436
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37004402_37007064del , CM000665.2:g.37004402_37007064del GRCh38
NC_000003.11:g.37045893_37048555del , CM000665.1:g.37045893_37048555del GRCh37
NC_000003.10:g.37020897_37023559del NCBI36
NG_007109.2:g.16053_18715del , LRG_216:g.16053_18715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.308_453+1del
ENST00000429117.6:c.14_159+1del
ENST00000450420.6:c.308_453+1del
ENST00000456676.7:c.308_453+1del
ENST00000458009.6:c.308_453+1del
ENST00000492474.6:c.-416_-271+1del
ENST00000616768.6:c.308_453+1del
ENST00000673673.2:c.308_453+1del
ENST00000231790.8:c.308_453+1del
ENST00000413212.2:c.-416_-271+1del
ENST00000432299.6:c.*388_*533+1del
ENST00000441265.6:c.-416_-271+1del
ENST00000442249.6:n.323_468+1del
ENST00000447829.6:c.18-2589_90+1del
ENST00000539477.6:c.-324_-179+1del
ENST00000673673.1:c.261_406+1del
ENST00000673713.1:n.339_484+1del
ENST00000673715.1:c.308_453+1del
ENST00000673897.1:c.*100_*245+1del
ENST00000673899.1:c.308_453+1del
ENST00000673947.1:c.*448_*593+1del
ENST00000673972.1:c.*186_*331+1del
ENST00000673990.1:n.293_438+1del
ENST00000674019.1:c.-416_-271+1del
ENST00000674107.1:n.250_395+1del
ENST00000674111.1:c.308_453+1del
ENST00000231790.6:c.308_453+1del
ENST00000429117.5:c.14_159+1del
ENST00000432299.5:c.*388_*533+1del
ENST00000435176.5:c.14_159+1del
ENST00000441265.5:c.-324_-179+1del
ENST00000442249.5:c.*100_*245+1del
ENST00000454028.5:c.*181_*326+1del
ENST00000455445.6:c.-416_-271+1del
ENST00000456676.6:c.283_428+1del
ENST00000457004.5:c.*87_*232+1del
ENST00000458205.6:c.-416_-271+1del
ENST00000466900.5:n.235_486+1del
ENST00000485889.1:n.312_457+1del
ENST00000492474.5:n.331_476+1del
ENST00000536378.5:c.-416_-271+1del
ENST00000539477.5:c.-324_-179+1del
NM_000249.3:c.308_453+1del , LRG_216t1:c.308_453+1del
NM_001167617.1:c.14_159+1del
NM_001167618.1:c.-416_-271+1del
NM_001167619.1:c.-324_-179+1del
NM_001258271.1:c.308_453+1del
NM_001258273.1:c.-416_-271+1del
NM_001258274.1:c.-416_-271+1del
XM_005265161.1:c.308_453+1del
XM_005265163.1:c.-416_-271+1del
XM_005265164.1:c.-416_-271+1del
XM_005265166.1:c.-622_-477+1del
XM_011533727.1:c.-519_-374+1del
NM_001167617.2:c.14_159+1del
NM_001167618.2:c.-416_-271+1del
NM_001167619.2:c.-324_-179+1del
NM_001258274.2:c.-416_-271+1del
NM_001354615.1:c.-324_-179+1del
NM_001354616.1:c.-324_-179+1del
NM_001354617.1:c.-416_-271+1del
NM_001354618.1:c.-416_-271+1del
NM_001354619.1:c.-416_-271+1del
NM_001354620.1:c.14_159+1del
NM_001354621.1:c.-509_-364+1del
NM_001354622.1:c.-622_-477+1del
NM_001354623.1:c.-622_-477+1del
NM_001354624.1:c.-519_-374+1del
NM_001354625.1:c.-427_-282+1del
NM_001354626.1:c.-519_-374+1del
NM_001354627.1:c.-519_-374+1del
NM_001354628.1:c.308_453+1del
NM_001354629.1:c.209_354+1del
NM_001354630.1:c.308_453+1del
XM_005265161.2:c.308_453+1del
XM_017006450.2:c.-509_-364+1del
NM_000249.4:c.308_453+1del
NM_001167617.3:c.14_159+1del
NM_001167618.3:c.-416_-271+1del
NM_001167619.3:c.-324_-179+1del
NM_001258271.2:c.308_453+1del
NM_001258273.2:c.-416_-271+1del
NM_001258274.3:c.-416_-271+1del
NM_001354615.2:c.-324_-179+1del
NM_001354616.2:c.-324_-179+1del
NM_001354617.2:c.-416_-271+1del
NM_001354618.2:c.-416_-271+1del
NM_001354619.2:c.-416_-271+1del
NM_001354620.2:c.14_159+1del
NM_001354621.2:c.-509_-364+1del
NM_001354622.2:c.-622_-477+1del
NM_001354623.2:c.-622_-477+1del
NM_001354624.2:c.-519_-374+1del
NM_001354625.2:c.-427_-282+1del
NM_001354626.2:c.-519_-374+1del
NM_001354627.2:c.-519_-374+1del
NM_001354628.2:c.308_453+1del
NM_001354629.2:c.209_354+1del
NM_001354630.2:c.308_453+1del