Canonical Allele Identifier: CA10578277
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233091
ClinVar RCV Id: RCV000216777
dbSNP Id: rs876660187

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050490_37050492dup , CM000665.2:g.37050490_37050492dup GRCh38
NC_000003.11:g.37091981_37091983dup , CM000665.1:g.37091981_37091983dup GRCh37
NC_000003.10:g.37066985_37066987dup NCBI36
NG_007109.2:g.62141_62143dup , LRG_216:g.62141_62143dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1672_1674dup ENSP00000416476.2:p.Lys558_Cys559insLys
ENST00000429117.6:c.1814_1816dup ENSP00000407019.2:p.Glu605_Val606insGlu
ENST00000450420.6:c.1563_*2dup ENSP00000393006.2:n.1563_*2dup
ENST00000456676.7:c.1901_1903dup ENSP00000416687.3:p.Glu634_Val635insGlu
ENST00000492474.6:c.1385_1387dup ENSP00000518393.1:p.Glu462_Val463insGlu
ENST00000616768.6:c.2015_2017dup ENSP00000480669.3:p.Glu672_Val673insGlu
ENST00000673673.2:c.1943_1945dup ENSP00000500979.2:p.Glu648_Val649insGlu
ENST00000231790.8:c.2108_2110dup MANE Select ENSP00000231790.3:p.Glu703_Val704insGlu
ENST00000413212.2:c.*1026_*1028dup ENSP00000400844.2:n.*1026_*1028dup
ENST00000432299.6:c.*1940_*1942dup ENSP00000416783.1:n.*1940_*1942dup
ENST00000447829.6:c.*1219_*1221dup ENSP00000399329.2:n.*1219_*1221dup
ENST00000539477.6:c.1385_1387dup ENSP00000443665.1:p.Glu462_Val463insGlu
ENST00000616768.5:c.1052_1054dup ENSP00000480669.2:p.Glu351_Val352insGlu
ENST00000673673.1:c.1896_1898dup
ENST00000673741.1:n.1142_1144dup
ENST00000673889.1:n.1490_1492dup
ENST00000673897.1:c.*1900_*1902dup ENSP00000501109.1:n.*1900_*1902dup
ENST00000673899.1:c.1376_1378dup ENSP00000501030.1:p.Glu459_Val460insGlu
ENST00000673947.1:c.*2248_*2250dup ENSP00000501304.1:n.*2248_*2250dup
ENST00000673972.1:c.*1986_*1988dup ENSP00000501281.1:n.*1986_*1988dup
ENST00000674019.1:c.1385_1387dup ENSP00000501081.1:p.Glu462_Val463insGlu
ENST00000674111.1:c.*337_*339dup ENSP00000501162.1:n.*337_*339dup
ENST00000674125.1:n.819_821dup
ENST00000231790.6:c.2108_2110dup ENSP00000231790.2:p.Glu703_Val704insGlu
ENST00000413740.1:c.295_297dup ENSP00000416476.1:p.Lys99_Cys100insLys
ENST00000435176.5:c.1814_1816dup ENSP00000402564.1:p.Glu605_Val606insGlu
ENST00000450420.5:c.186_188dup ENSP00000393006.1:n.186_188dup
ENST00000455445.6:c.1385_1387dup ENSP00000398272.2:p.Glu462_Val463insGlu
ENST00000456676.6:c.1876_1878dup
ENST00000458205.6:c.1385_1387dup ENSP00000402667.2:p.Glu462_Val463insGlu
ENST00000536378.5:c.1385_1387dup ENSP00000444286.2:p.Glu462_Val463insGlu
ENST00000539477.5:c.1385_1387dup ENSP00000443665.1:p.Glu462_Val463insGlu
NM_000249.3:c.2108_2110dup , LRG_216t1:c.2108_2110dup NP_000240.1:p.Glu703_Val704insGlu
NM_001167617.1:c.1814_1816dup NP_001161089.1:p.Glu605_Val606insGlu
NM_001167618.1:c.1385_1387dup NP_001161090.1:p.Glu462_Val463insGlu
NM_001167619.1:c.1385_1387dup NP_001161091.1:p.Glu462_Val463insGlu
NM_001258271.1:c.1901_1903dup NP_001245200.1:p.Glu634_Val635insGlu
NM_001258273.1:c.1385_1387dup NP_001245202.1:p.Glu462_Val463insGlu
NM_001258274.1:c.1385_1387dup NP_001245203.1:p.Glu462_Val463insGlu
XM_005265161.1:c.1901_1903dup XP_005265218.1:p.Glu634_Val635insGlu
XM_005265163.1:c.1385_1387dup XP_005265220.1:p.Glu462_Val463insGlu
XM_005265164.1:c.1385_1387dup XP_005265221.1:p.Glu462_Val463insGlu
XM_005265166.1:c.1085_1087dup XP_005265223.1:p.Glu362_Val363insGlu
XM_011533727.1:c.1034_1036dup XP_011532029.1:p.Glu345_Val346insGlu
NM_001167617.2:c.1814_1816dup NP_001161089.1:p.Glu605_Val606insGlu
NM_001167618.2:c.1385_1387dup NP_001161090.1:p.Glu462_Val463insGlu
NM_001167619.2:c.1385_1387dup NP_001161091.1:p.Glu462_Val463insGlu
NM_001258274.2:c.1385_1387dup NP_001245203.1:p.Glu462_Val463insGlu
NM_001354615.1:c.1385_1387dup NP_001341544.1:p.Glu462_Val463insGlu
NM_001354616.1:c.1385_1387dup NP_001341545.1:p.Glu462_Val463insGlu
NM_001354617.1:c.1385_1387dup NP_001341546.1:p.Glu462_Val463insGlu
NM_001354618.1:c.1385_1387dup NP_001341547.1:p.Glu462_Val463insGlu
NM_001354619.1:c.1385_1387dup NP_001341548.1:p.Glu462_Val463insGlu
NM_001354620.1:c.1814_1816dup NP_001341549.1:p.Glu605_Val606insGlu
NM_001354621.1:c.1085_1087dup NP_001341550.1:p.Glu362_Val363insGlu
NM_001354622.1:c.1085_1087dup NP_001341551.1:p.Glu362_Val363insGlu
NM_001354623.1:c.1085_1087dup NP_001341552.1:p.Glu362_Val363insGlu
NM_001354624.1:c.1034_1036dup NP_001341553.1:p.Glu345_Val346insGlu
NM_001354625.1:c.1034_1036dup NP_001341554.1:p.Glu345_Val346insGlu
NM_001354626.1:c.1034_1036dup NP_001341555.1:p.Glu345_Val346insGlu
NM_001354627.1:c.1034_1036dup NP_001341556.1:p.Glu345_Val346insGlu
NM_001354628.1:c.2015_2017dup NP_001341557.1:p.Glu672_Val673insGlu
NM_001354629.1:c.2009_2011dup NP_001341558.1:p.Glu670_Val671insGlu
NM_001354630.1:c.1943_1945dup NP_001341559.1:p.Glu648_Val649insGlu
XM_005265161.2:c.1901_1903dup XP_005265218.1:p.Glu634_Val635insGlu
XM_017006450.2:c.1085_1087dup XP_016861939.1:p.Glu362_Val363insGlu
NM_000249.4:c.2108_2110dup MANE Select NP_000240.1:p.Glu703_Val704insGlu
NM_001167617.3:c.1814_1816dup NP_001161089.1:p.Glu605_Val606insGlu
NM_001167618.3:c.1385_1387dup NP_001161090.1:p.Glu462_Val463insGlu
NM_001167619.3:c.1385_1387dup NP_001161091.1:p.Glu462_Val463insGlu
NM_001258271.2:c.1901_1903dup NP_001245200.1:p.Glu634_Val635insGlu
NM_001258273.2:c.1385_1387dup NP_001245202.1:p.Glu462_Val463insGlu
NM_001258274.3:c.1385_1387dup NP_001245203.1:p.Glu462_Val463insGlu
NM_001354615.2:c.1385_1387dup NP_001341544.1:p.Glu462_Val463insGlu
NM_001354616.2:c.1385_1387dup NP_001341545.1:p.Glu462_Val463insGlu
NM_001354617.2:c.1385_1387dup NP_001341546.1:p.Glu462_Val463insGlu
NM_001354618.2:c.1385_1387dup NP_001341547.1:p.Glu462_Val463insGlu
NM_001354619.2:c.1385_1387dup NP_001341548.1:p.Glu462_Val463insGlu
NM_001354620.2:c.1814_1816dup NP_001341549.1:p.Glu605_Val606insGlu
NM_001354621.2:c.1085_1087dup NP_001341550.1:p.Glu362_Val363insGlu
NM_001354622.2:c.1085_1087dup NP_001341551.1:p.Glu362_Val363insGlu
NM_001354623.2:c.1085_1087dup NP_001341552.1:p.Glu362_Val363insGlu
NM_001354624.2:c.1034_1036dup NP_001341553.1:p.Glu345_Val346insGlu
NM_001354625.2:c.1034_1036dup NP_001341554.1:p.Glu345_Val346insGlu
NM_001354626.2:c.1034_1036dup NP_001341555.1:p.Glu345_Val346insGlu
NM_001354627.2:c.1034_1036dup NP_001341556.1:p.Glu345_Val346insGlu
NM_001354628.2:c.2015_2017dup NP_001341557.1:p.Glu672_Val673insGlu
NM_001354629.2:c.2009_2011dup NP_001341558.1:p.Glu670_Val671insGlu
NM_001354630.2:c.1943_1945dup NP_001341559.1:p.Glu648_Val649insGlu