Canonical Allele Identifier: CA72811302
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs267607874
COSMIC: COSM25887

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37048515_37048525del , CM000665.2:g.37048515_37048525del GRCh38
NC_000003.11:g.37090006_37090016del , CM000665.1:g.37090006_37090016del GRCh37
NC_000003.10:g.37065010_37065020del NCBI36
NG_007109.2:g.60166_60176del , LRG_216:g.60166_60176del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-1971_1668-1961del ENSP00000416476.2:n.1668-1971_1668-1961del
ENST00000429117.6:c.1603-2_1611del
ENST00000450420.6:c.1559-1971_1559-1961del ENSP00000393006.2:n.1559-1971_1559-1961del
ENST00000456676.7:c.1896+832_1896+842del ENSP00000416687.3:n.1896+832_1896+842del
ENST00000492474.6:c.1174-2_1182del
ENST00000616768.6:c.1897-389_1897-379del ENSP00000480669.3:n.1897-389_1897-379del
ENST00000673673.2:c.1732-2_1740del
ENST00000231790.8:c.1897-2_1905del
ENST00000413212.2:c.*815-2_*823del
ENST00000432299.6:c.*1729-2_*1737del
ENST00000447829.6:c.*1008-2_*1016del
ENST00000539477.6:c.1174-2_1182del
ENST00000616768.5:c.934-389_934-379del ENSP00000480669.2:n.934-389_934-379del
ENST00000673673.1:c.1685-2_1693del
ENST00000673741.1:n.931-2_939del
ENST00000673889.1:n.1279-2_1287del
ENST00000673897.1:c.*1689-2_*1697del
ENST00000673899.1:c.1165-2_1173del
ENST00000673947.1:c.*2037-2_*2045del
ENST00000673972.1:c.*1775-2_*1783del
ENST00000674019.1:c.1174-2_1182del
ENST00000674111.1:c.*126-2_*134del
ENST00000674125.1:n.608-2_616del
ENST00000231790.6:c.1897-2_1905del
ENST00000413740.1:c.291-1971_291-1961del ENSP00000416476.1:n.291-1971_291-1961del
ENST00000435176.5:c.1603-2_1611del
ENST00000450420.5:c.182-1971_182-1961del ENSP00000393006.1:n.182-1971_182-1961del
ENST00000455445.6:c.1174-2_1182del
ENST00000456676.6:c.1871+832_1871+842del
ENST00000458205.6:c.1174-2_1182del
ENST00000536378.5:c.1174-2_1182del
ENST00000539477.5:c.1174-2_1182del
NM_000249.3:c.1897-2_1905del , LRG_216t1:c.1897-2_1905del
NM_001167617.1:c.1603-2_1611del
NM_001167618.1:c.1174-2_1182del
NM_001167619.1:c.1174-2_1182del
NM_001258271.1:c.1896+832_1896+842del NP_001245200.1:n.1896+832_1896+842del
NM_001258273.1:c.1174-2_1182del
NM_001258274.1:c.1174-2_1182del
XM_005265161.1:c.1690-2_1698del
XM_005265163.1:c.1174-2_1182del
XM_005265164.1:c.1174-2_1182del
XM_005265166.1:c.874-2_882del
XM_011533727.1:c.823-2_831del
NM_001167617.2:c.1603-2_1611del
NM_001167618.2:c.1174-2_1182del
NM_001167619.2:c.1174-2_1182del
NM_001258274.2:c.1174-2_1182del
NM_001354615.1:c.1174-2_1182del
NM_001354616.1:c.1174-2_1182del
NM_001354617.1:c.1174-2_1182del
NM_001354618.1:c.1174-2_1182del
NM_001354619.1:c.1174-2_1182del
NM_001354620.1:c.1603-2_1611del
NM_001354621.1:c.874-2_882del
NM_001354622.1:c.874-2_882del
NM_001354623.1:c.874-2_882del
NM_001354624.1:c.823-2_831del
NM_001354625.1:c.823-2_831del
NM_001354626.1:c.823-2_831del
NM_001354627.1:c.823-2_831del
NM_001354628.1:c.1897-389_1897-379del NP_001341557.1:n.1897-389_1897-379del
NM_001354629.1:c.1798-2_1806del
NM_001354630.1:c.1732-2_1740del
XM_005265161.2:c.1690-2_1698del
XM_017006450.2:c.874-2_882del
NM_000249.4:c.1897-2_1905del
NM_001167617.3:c.1603-2_1611del
NM_001167618.3:c.1174-2_1182del
NM_001167619.3:c.1174-2_1182del
NM_001258271.2:c.1896+832_1896+842del NP_001245200.1:n.1896+832_1896+842del
NM_001258273.2:c.1174-2_1182del
NM_001258274.3:c.1174-2_1182del
NM_001354615.2:c.1174-2_1182del
NM_001354616.2:c.1174-2_1182del
NM_001354617.2:c.1174-2_1182del
NM_001354618.2:c.1174-2_1182del
NM_001354619.2:c.1174-2_1182del
NM_001354620.2:c.1603-2_1611del
NM_001354621.2:c.874-2_882del
NM_001354622.2:c.874-2_882del
NM_001354623.2:c.874-2_882del
NM_001354624.2:c.823-2_831del
NM_001354625.2:c.823-2_831del
NM_001354626.2:c.823-2_831del
NM_001354627.2:c.823-2_831del
NM_001354628.2:c.1897-389_1897-379del NP_001341557.1:n.1897-389_1897-379del
NM_001354629.2:c.1798-2_1806del
NM_001354630.2:c.1732-2_1740del