Canonical Allele Identifier: CA011511
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90313
ClinVar RCV Id: RCV000075804
dbSNP Id: rs267607779

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37012100del , CM000665.2:g.37012100del GRCh38
NC_000003.11:g.37053591del , CM000665.1:g.37053591del GRCh37
NC_000003.10:g.37028595del NCBI36
NG_007109.2:g.23751del , LRG_216:g.23751del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.677+1del
ENST00000429117.6:c.383+1del
ENST00000450420.6:c.677+1del
ENST00000456676.7:c.677+1del
ENST00000458009.6:c.677+1del
ENST00000492474.6:c.-47+1del
ENST00000616768.6:c.677+1del
ENST00000673673.2:c.677+1del
ENST00000231790.8:c.677+1del
ENST00000413212.2:c.-47+1del
ENST00000432299.6:c.*757+1del
ENST00000441265.6:c.-47+1del
ENST00000442249.6:n.692+1del
ENST00000447829.6:c.314+1del
ENST00000539477.6:c.-47+1del
ENST00000673673.1:c.630+1del
ENST00000673713.1:n.708+1del
ENST00000673715.1:c.677+1del
ENST00000673897.1:c.*469+1del
ENST00000673899.1:c.677+1del
ENST00000673947.1:c.*817+1del
ENST00000673972.1:c.*555+1del
ENST00000673990.1:n.662+1del
ENST00000674019.1:c.-47+1del
ENST00000674107.1:n.619+1del
ENST00000674111.1:c.677+1del
ENST00000231790.6:c.677+1del
ENST00000435176.5:c.383+1del
ENST00000441265.5:c.-47+1del
ENST00000447829.5:c.58+1del
ENST00000455445.6:c.-47+1del
ENST00000456676.6:c.652+1del
ENST00000457004.5:c.*456+1del
ENST00000458009.5:c.18+1del
ENST00000458205.6:c.-47+1del
ENST00000536378.5:c.-47+1del
ENST00000539477.5:c.-47+1del
NM_000249.3:c.677+1del , LRG_216t1:c.677+1del
NM_001167617.1:c.383+1del
NM_001167618.1:c.-47+1del
NM_001167619.1:c.-47+1del
NM_001258271.1:c.677+1del
NM_001258273.1:c.-47+1del
NM_001258274.1:c.-47+1del
XM_005265161.1:c.677+1del
XM_005265163.1:c.-47+1del
XM_005265164.1:c.-47+1del
XM_005265166.1:c.-253+1del
XM_011533727.1:c.-150+1del
NM_001167617.2:c.383+1del
NM_001167618.2:c.-47+1del
NM_001167619.2:c.-47+1del
NM_001258274.2:c.-47+1del
NM_001354615.1:c.-47+1del
NM_001354616.1:c.-47+1del
NM_001354617.1:c.-47+1del
NM_001354618.1:c.-47+1del
NM_001354619.1:c.-47+1del
NM_001354620.1:c.383+1del
NM_001354621.1:c.-140+1del
NM_001354622.1:c.-253+1del
NM_001354623.1:c.-253+1del
NM_001354624.1:c.-150+1del
NM_001354625.1:c.-150+1del
NM_001354626.1:c.-150+1del
NM_001354627.1:c.-150+1del
NM_001354628.1:c.677+1del
NM_001354629.1:c.578+1del
NM_001354630.1:c.677+1del
XM_005265161.2:c.677+1del
XM_017006450.2:c.-140+1del
NM_000249.4:c.677+1del
NM_001167617.3:c.383+1del
NM_001167618.3:c.-47+1del
NM_001167619.3:c.-47+1del
NM_001258271.2:c.677+1del
NM_001258273.2:c.-47+1del
NM_001258274.3:c.-47+1del
NM_001354615.2:c.-47+1del
NM_001354616.2:c.-47+1del
NM_001354617.2:c.-47+1del
NM_001354618.2:c.-47+1del
NM_001354619.2:c.-47+1del
NM_001354620.2:c.383+1del
NM_001354621.2:c.-140+1del
NM_001354622.2:c.-253+1del
NM_001354623.2:c.-253+1del
NM_001354624.2:c.-150+1del
NM_001354625.2:c.-150+1del
NM_001354626.2:c.-150+1del
NM_001354627.2:c.-150+1del
NM_001354628.2:c.677+1del
NM_001354629.2:c.578+1del
NM_001354630.2:c.677+1del