Canonical Allele Identifier: CA2695197809
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2673845
ClinVar RCV Id: RCV003450462

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047661_37047694delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT , CM000665.2:g.37047661_37047694delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT GRCh38
NC_000003.11:g.37089152_37089185delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT , CM000665.1:g.37089152_37089185delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT GRCh37
NC_000003.10:g.37064156_37064189delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT NCBI36
NG_007109.2:g.59312_59345delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT , LRG_216:g.59312_59345delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-2825_1668-2792delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT ENSP00000416476.2:n.1668-2825_1668-2792delinsTATTCTTGCTTGCAGA...
ENST00000429117.6:c.1580_1602+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000450420.6:c.1559-2825_1559-2792delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT ENSP00000393006.2:n.1559-2825_1559-2792delinsTATTCTTGCTTGCAGA...
ENST00000456676.7:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000492474.6:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000616768.6:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000673673.2:c.1732-856_1732-823delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT ENSP00000500979.2:n.1732-856_1732-823delinsTATTCTTGCTTGCAGAAG...
ENST00000231790.8:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000413212.2:c.*792_*814+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000432299.6:c.*1706_*1728+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000441265.6:c.*103_*136delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT ENSP00000398392.2:n.*103_*136delinsTATTCTTGCTTGCAGAAGTATTGCAG...
ENST00000447829.6:c.*985_*1007+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000539477.6:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000616768.5:c.911_933+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000673673.1:c.1685-856_1685-823delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000673715.1:c.1874_*5delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT ENSP00000501301.1:n.[c.1874_*5delinsTATTCTTGCTTGCAGAAGTATTGCA...
ENST00000673741.1:n.908_930+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000673889.1:n.1256_1278+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000673897.1:c.*1666_*1688+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000673899.1:c.1142_1164+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000673947.1:c.*2014_*2036+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000673972.1:c.*1752_*1774+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000674019.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000674111.1:c.*103_*125+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000674125.1:n.585_607+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000231790.6:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000413740.1:c.291-2825_291-2792delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT ENSP00000416476.1:n.291-2825_291-2792delinsTATTCTTGCTTGCAGAAG...
ENST00000435176.5:c.1580_1602+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000450420.5:c.182-2825_182-2792delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT ENSP00000393006.1:n.182-2825_182-2792delinsTATTCTTGCTTGCAGAAG...
ENST00000455445.6:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000456676.6:c.1849_1871+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000458205.6:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000536378.5:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000539477.5:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
ENST00000616768.4:c.642_675delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_000249.3:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT , LRG_216t1:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001167617.1:c.1580_1602+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001167618.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001167619.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001258271.1:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001258273.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001258274.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
XM_005265161.1:c.1667_1689+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
XM_005265163.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
XM_005265164.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
XM_005265166.1:c.851_873+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
XM_011533727.1:c.800_822+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001167617.2:c.1580_1602+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001167618.2:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001167619.2:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001258274.2:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354615.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354616.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354617.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354618.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354619.1:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354620.1:c.1580_1602+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354621.1:c.851_873+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354622.1:c.851_873+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354623.1:c.851_873+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354624.1:c.800_822+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354625.1:c.800_822+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354626.1:c.800_822+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354627.1:c.800_822+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354628.1:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354629.1:c.1775_1797+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354630.1:c.1732-856_1732-823delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT NP_001341559.1:n.1732-856_1732-823delinsTATTCTTGCTTGCAGAAGTAT...
XM_005265161.2:c.1667_1689+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
XM_017006450.2:c.851_873+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_000249.4:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001167617.3:c.1580_1602+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001167618.3:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001167619.3:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001258271.2:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001258273.2:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001258274.3:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354615.2:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354616.2:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354617.2:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354618.2:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354619.2:c.1151_1173+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354620.2:c.1580_1602+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354621.2:c.851_873+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354622.2:c.851_873+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354623.2:c.851_873+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354624.2:c.800_822+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354625.2:c.800_822+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354626.2:c.800_822+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354627.2:c.800_822+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354628.2:c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354629.2:c.1775_1797+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
NM_001354630.2:c.1732-856_1732-823delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT NP_001341559.1:n.1732-856_1732-823delinsTATTCTTGCTTGCAGAAGTAT...