Canonical Allele Identifier: CA1139656173
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 993078
ClinVar RCV Id: RCV001284003

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37000955_37001053del , CM000665.2:g.37000955_37001053del GRCh38
NC_000003.11:g.37042446_37042544del , CM000665.1:g.37042446_37042544del GRCh37
NC_000003.10:g.37017450_37017548del NCBI36
NG_007109.2:g.12606_12704del , LRG_216:g.12606_12704del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.208_306del
ENST00000429117.6:c.-82_12+5del
ENST00000450420.6:c.208_306del
ENST00000456676.7:c.208_306del
ENST00000458009.6:c.208_306del
ENST00000492474.6:c.-516_-418del
ENST00000616768.6:c.208_306del
ENST00000673673.2:c.208_306del
ENST00000231790.8:c.208_306del
ENST00000413212.2:c.-516_-418del
ENST00000432299.6:c.*288_*386del
ENST00000441265.6:c.-516_-418del
ENST00000442249.6:n.223_321del
ENST00000447829.6:c.-82_17del
ENST00000539477.6:c.-424_-326del
ENST00000673673.1:c.161_259del
ENST00000673713.1:n.239_337del
ENST00000673715.1:c.208_306del
ENST00000673897.1:c.117_*98del
ENST00000673899.1:c.208_306del
ENST00000673947.1:c.*348_*446del
ENST00000673972.1:c.*86_*184del
ENST00000673990.1:n.193_291del
ENST00000674019.1:c.-516_-418del
ENST00000674107.1:n.150_248del
ENST00000674111.1:c.208_306del
ENST00000231790.6:c.208_306del
ENST00000429117.5:c.-82_12+5del
ENST00000432299.5:c.*288_*386del
ENST00000435176.5:c.-82_12+5del
ENST00000441265.5:c.-424_-326del
ENST00000442249.5:c.117_*98del
ENST00000454028.5:c.*86_*179+5del
ENST00000455445.6:c.-516_-418del
ENST00000456676.6:c.183_281del
ENST00000457004.5:c.*86-3446_*86-3348del ENSP00000407773.1:n.*86-3446_*86-3348del
ENST00000458205.6:c.-516_-418del
ENST00000466900.5:n.135_233del
ENST00000476172.5:n.330_428del
ENST00000485889.1:n.212_310del
ENST00000492474.5:n.231_329del
ENST00000536378.5:c.-516_-418del
ENST00000539477.5:c.-424_-326del
NM_000249.3:c.208_306del , LRG_216t1:c.208_306del
NM_001167617.1:c.-82_12+5del
NM_001167618.1:c.-516_-418del
NM_001167619.1:c.-424_-326del
NM_001258271.1:c.208_306del
NM_001258273.1:c.-516_-418del
NM_001258274.1:c.-516_-418del
XM_005265161.1:c.208_306del
XM_005265163.1:c.-516_-418del
XM_005265164.1:c.-516_-418del
XM_005265166.1:c.-722_-624del
XM_011533727.1:c.-619_-521del
NM_001167617.2:c.-82_12+5del
NM_001167618.2:c.-516_-418del
NM_001167619.2:c.-424_-326del
NM_001258274.2:c.-516_-418del
NM_001354615.1:c.-419_-326+5del
NM_001354616.1:c.-424_-326del
NM_001354617.1:c.-516_-418del
NM_001354618.1:c.-516_-418del
NM_001354619.1:c.-516_-418del
NM_001354620.1:c.-82_12+5del
NM_001354621.1:c.-609_-511del
NM_001354622.1:c.-722_-624del
NM_001354623.1:c.-722_-624del
NM_001354624.1:c.-619_-521del
NM_001354625.1:c.-522_-429+5del
NM_001354626.1:c.-619_-521del
NM_001354627.1:c.-619_-521del
NM_001354628.1:c.208_306del
NM_001354629.1:c.208-3446_208-3348del NP_001341558.1:n.208-3446_208-3348del
NM_001354630.1:c.208_306del
XM_005265161.2:c.208_306del
XM_017006450.2:c.-609_-511del
NM_000249.4:c.208_306del
NM_001167617.3:c.-82_12+5del
NM_001167618.3:c.-516_-418del
NM_001167619.3:c.-424_-326del
NM_001258271.2:c.208_306del
NM_001258273.2:c.-516_-418del
NM_001258274.3:c.-516_-418del
NM_001354615.2:c.-419_-326+5del
NM_001354616.2:c.-424_-326del
NM_001354617.2:c.-516_-418del
NM_001354618.2:c.-516_-418del
NM_001354619.2:c.-516_-418del
NM_001354620.2:c.-82_12+5del
NM_001354621.2:c.-609_-511del
NM_001354622.2:c.-722_-624del
NM_001354623.2:c.-722_-624del
NM_001354624.2:c.-619_-521del
NM_001354625.2:c.-522_-429+5del
NM_001354626.2:c.-619_-521del
NM_001354627.2:c.-619_-521del
NM_001354628.2:c.208_306del
NM_001354629.2:c.208-3446_208-3348del NP_001341558.1:n.208-3446_208-3348del
NM_001354630.2:c.208_306del