Canonical Allele Identifier: CA2580069447
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1779009
ClinVar RCV Id: RCV002407435

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047510_37047534delinsCC , CM000665.2:g.37047510_37047534delinsCC GRCh38
NC_000003.11:g.37089001_37089025delinsCC , CM000665.1:g.37089001_37089025delinsCC GRCh37
NC_000003.10:g.37064005_37064029delinsCC NCBI36
NG_007109.2:g.59161_59185delinsCC , LRG_216:g.59161_59185delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-2976_1668-2952delinsCC ENSP00000416476.2:n.1668-2976_1668-2952delinsCC
ENST00000429117.6:c.1438-9_1453delinsCC
ENST00000450420.6:c.1559-2976_1559-2952delinsCC ENSP00000393006.2:n.1559-2976_1559-2952delinsCC
ENST00000456676.7:c.1732-9_1747delinsCC
ENST00000492474.6:c.1009-9_1024delinsCC
ENST00000616768.6:c.1732-9_1747delinsCC
ENST00000673673.2:c.1732-1007_1732-983delinsCC ENSP00000500979.2:n.1732-1007_1732-983delinsCC
ENST00000231790.8:c.1732-9_1747delinsCC
ENST00000413212.2:c.*650-9_*665delinsCC
ENST00000432299.6:c.*1564-9_*1579delinsCC
ENST00000441265.6:c.945-9_960delinsCC
ENST00000447829.6:c.*843-9_*858delinsCC
ENST00000539477.6:c.1009-9_1024delinsCC
ENST00000616768.5:c.769-9_784delinsCC
ENST00000673673.1:c.1685-1007_1685-983delinsCC
ENST00000673715.1:c.1732-9_1747delinsCC
ENST00000673741.1:n.757_781delinsCC
ENST00000673889.1:n.1114-9_1129delinsCC
ENST00000673897.1:c.*1524-9_*1539delinsCC
ENST00000673899.1:c.1000-9_1015delinsCC
ENST00000673947.1:c.*1872-9_*1887delinsCC
ENST00000673972.1:c.*1610-9_*1625delinsCC
ENST00000673990.1:n.1623-9_1638delinsCC
ENST00000674019.1:c.1009-9_1024delinsCC
ENST00000674111.1:c.1668-9_1683delinsCC
ENST00000674125.1:n.443-9_458delinsCC
ENST00000231790.6:c.1732-9_1747delinsCC
ENST00000413740.1:c.291-2976_291-2952delinsCC ENSP00000416476.1:n.291-2976_291-2952delinsCC
ENST00000435176.5:c.1438-9_1453delinsCC
ENST00000450420.5:c.182-2976_182-2952delinsCC ENSP00000393006.1:n.182-2976_182-2952delinsCC
ENST00000455445.6:c.1009-9_1024delinsCC
ENST00000456676.6:c.1707-9_1722delinsCC
ENST00000458205.6:c.1009-9_1024delinsCC
ENST00000536378.5:c.1009-9_1024delinsCC
ENST00000539477.5:c.1009-9_1024delinsCC
ENST00000616768.4:c.500-9_515delinsCC
NM_000249.3:c.1732-9_1747delinsCC , LRG_216t1:c.1732-9_1747delinsCC
NM_001167617.1:c.1438-9_1453delinsCC
NM_001167618.1:c.1009-9_1024delinsCC
NM_001167619.1:c.1009-9_1024delinsCC
NM_001258271.1:c.1732-9_1747delinsCC
NM_001258273.1:c.1009-9_1024delinsCC
NM_001258274.1:c.1009-9_1024delinsCC
XM_005265161.1:c.1525-9_1540delinsCC
XM_005265163.1:c.1009-9_1024delinsCC
XM_005265164.1:c.1009-9_1024delinsCC
XM_005265166.1:c.709-9_724delinsCC
XM_011533727.1:c.658-9_673delinsCC
NM_001167617.2:c.1438-9_1453delinsCC
NM_001167618.2:c.1009-9_1024delinsCC
NM_001167619.2:c.1009-9_1024delinsCC
NM_001258274.2:c.1009-9_1024delinsCC
NM_001354615.1:c.1009-9_1024delinsCC
NM_001354616.1:c.1009-9_1024delinsCC
NM_001354617.1:c.1009-9_1024delinsCC
NM_001354618.1:c.1009-9_1024delinsCC
NM_001354619.1:c.1009-9_1024delinsCC
NM_001354620.1:c.1438-9_1453delinsCC
NM_001354621.1:c.709-9_724delinsCC
NM_001354622.1:c.709-9_724delinsCC
NM_001354623.1:c.709-9_724delinsCC
NM_001354624.1:c.658-9_673delinsCC
NM_001354625.1:c.658-9_673delinsCC
NM_001354626.1:c.658-9_673delinsCC
NM_001354627.1:c.658-9_673delinsCC
NM_001354628.1:c.1732-9_1747delinsCC
NM_001354629.1:c.1633-9_1648delinsCC
NM_001354630.1:c.1732-1007_1732-983delinsCC NP_001341559.1:n.1732-1007_1732-983delinsCC
XM_005265161.2:c.1525-9_1540delinsCC
XM_017006450.2:c.709-9_724delinsCC
NM_000249.4:c.1732-9_1747delinsCC
NM_001167617.3:c.1438-9_1453delinsCC
NM_001167618.3:c.1009-9_1024delinsCC
NM_001167619.3:c.1009-9_1024delinsCC
NM_001258271.2:c.1732-9_1747delinsCC
NM_001258273.2:c.1009-9_1024delinsCC
NM_001258274.3:c.1009-9_1024delinsCC
NM_001354615.2:c.1009-9_1024delinsCC
NM_001354616.2:c.1009-9_1024delinsCC
NM_001354617.2:c.1009-9_1024delinsCC
NM_001354618.2:c.1009-9_1024delinsCC
NM_001354619.2:c.1009-9_1024delinsCC
NM_001354620.2:c.1438-9_1453delinsCC
NM_001354621.2:c.709-9_724delinsCC
NM_001354622.2:c.709-9_724delinsCC
NM_001354623.2:c.709-9_724delinsCC
NM_001354624.2:c.658-9_673delinsCC
NM_001354625.2:c.658-9_673delinsCC
NM_001354626.2:c.658-9_673delinsCC
NM_001354627.2:c.658-9_673delinsCC
NM_001354628.2:c.1732-9_1747delinsCC
NM_001354629.2:c.1633-9_1648delinsCC
NM_001354630.2:c.1732-1007_1732-983delinsCC NP_001341559.1:n.1732-1007_1732-983delinsCC