Canonical Allele Identifier: CA2586971878
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2673709
ClinVar RCV Id: RCV003450346

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993664del , CM000665.2:g.36993664del GRCh38
NC_000003.11:g.37035155del , CM000665.1:g.37035155del GRCh37
NC_000003.10:g.37010159del NCBI36
NG_007109.2:g.5315del , LRG_216:g.5315del
NG_008418.1:g.4642del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.116+1del
ENST00000450420.6:c.116+1del
ENST00000456676.7:c.116+1del
ENST00000458009.6:c.116+1del
ENST00000616768.6:c.116+1del
ENST00000673673.2:c.116+1del
ENST00000231790.8:c.116+1del
ENST00000432299.6:c.117del ENSP00000416783.1:p.Trp39CysfsTer?
ENST00000442249.6:n.131+1del
ENST00000673673.1:c.69+1del
ENST00000673713.1:n.147+1del
ENST00000673715.1:c.116+1del
ENST00000673897.1:c.116+1del
ENST00000673899.1:c.116+1del
ENST00000673947.1:c.116+1del
ENST00000673972.1:c.116+1del
ENST00000674111.1:c.116+1del
ENST00000231790.6:c.116+1del
ENST00000432299.5:c.117del ENSP00000416783.1:p.Trp39CysfsTer?
ENST00000442249.5:c.116+1del
ENST00000454028.5:c.116+1del
ENST00000456676.6:c.91+1del
ENST00000457004.5:c.116+1del
ENST00000536378.5:c.-517+1del
NM_000249.3:c.116+1del , LRG_216t1:c.116+1del
NM_001258271.1:c.116+1del
NM_001258273.1:c.-517+1del
XM_005265161.1:c.116+1del
XM_005265164.1:c.-603+1del
NM_001167617.2:c.-400del NP_001161089.1:n.-400del
NM_001167618.2:c.-829del NP_001161090.1:n.-829del
NM_001167619.2:c.-742del NP_001161091.1:n.-742del
NM_001258274.2:c.-979del NP_001245203.1:n.-979del
NM_001354615.1:c.-511+1del
NM_001354616.1:c.-511+1del
NM_001354617.1:c.-603+1del
NM_001354618.1:c.-834del NP_001341547.1:n.-834del
NM_001354619.1:c.-958del NP_001341548.1:n.-958del
NM_001354620.1:c.-169+1del
NM_001354621.1:c.-927del NP_001341550.1:n.-927del
NM_001354622.1:c.-1040del NP_001341551.1:n.-1040del
NM_001354623.1:c.-949del NP_001341552.1:n.-949del
NM_001354624.1:c.-711+1del
NM_001354625.1:c.-609+1del
NM_001354626.1:c.-706+1del
NM_001354627.1:c.-937del NP_001341556.1:n.-937del
NM_001354628.1:c.116+1del
NM_001354629.1:c.116+1del
NM_001354630.1:c.116+1del
XM_005265161.2:c.116+1del
XM_017006450.2:c.-696+1del
NM_000249.4:c.116+1del
NM_001167617.3:c.-400del NP_001161089.1:n.-400del
NM_001167618.3:c.-829del NP_001161090.1:n.-829del
NM_001167619.3:c.-742del NP_001161091.1:n.-742del
NM_001258271.2:c.116+1del
NM_001258273.2:c.-517+1del
NM_001258274.3:c.-979del NP_001245203.1:n.-979del
NM_001354615.2:c.-511+1del
NM_001354616.2:c.-511+1del
NM_001354617.2:c.-603+1del
NM_001354618.2:c.-834del NP_001341547.1:n.-834del
NM_001354619.2:c.-958del NP_001341548.1:n.-958del
NM_001354620.2:c.-169+1del
NM_001354621.2:c.-927del NP_001341550.1:n.-927del
NM_001354622.2:c.-1040del NP_001341551.1:n.-1040del
NM_001354623.2:c.-949del NP_001341552.1:n.-949del
NM_001354624.2:c.-711+1del
NM_001354625.2:c.-609+1del
NM_001354626.2:c.-706+1del
NM_001354627.2:c.-937del NP_001341556.1:n.-937del
NM_001354628.2:c.116+1del
NM_001354629.2:c.116+1del
NM_001354630.2:c.116+1del