Canonical Allele Identifier: CA1357890240
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047654_37047655delinsGC , CM000665.2:g.37047654_37047655delinsGC GRCh38
NC_000003.11:g.37089145_37089146delinsGC , CM000665.1:g.37089145_37089146delinsGC GRCh37
NC_000003.10:g.37064149_37064150delinsGC NCBI36
NG_007109.2:g.59305_59306delinsGC , LRG_216:g.59305_59306delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-2832_1668-2831delinsGC ENSP00000416476.2:n.1668-2832_1668-2831delinsGC
ENST00000429117.6:c.1573_1574delinsGC ENSP00000407019.2:p.Ala525=
ENST00000450420.6:c.1559-2832_1559-2831delinsGC ENSP00000393006.2:n.1559-2832_1559-2831delinsGC
ENST00000456676.7:c.1867_1868delinsGC ENSP00000416687.3:p.Ala623=
ENST00000492474.6:c.1144_1145delinsGC ENSP00000518393.1:p.Ala382=
ENST00000616768.6:c.1867_1868delinsGC ENSP00000480669.3:p.Ala623=
ENST00000673673.2:c.1732-863_1732-862delinsGC ENSP00000500979.2:n.1732-863_1732-862delinsGC
ENST00000231790.8:c.1867_1868delinsGC MANE Select ENSP00000231790.3:p.Ala623=
ENST00000413212.2:c.*785_*786delinsGC ENSP00000400844.2:n.*785_*786delinsGC
ENST00000432299.6:c.*1699_*1700delinsGC ENSP00000416783.1:n.*1699_*1700delinsGC
ENST00000441265.6:c.*96_*97delinsGC ENSP00000398392.2:n.*96_*97delinsGC
ENST00000447829.6:c.*978_*979delinsGC ENSP00000399329.2:n.*978_*979delinsGC
ENST00000539477.6:c.1144_1145delinsGC ENSP00000443665.1:p.Ala382=
ENST00000616768.5:c.904_905delinsGC ENSP00000480669.2:p.Ala302=
ENST00000673673.1:c.1685-863_1685-862delinsGC
ENST00000673715.1:c.1867_1868delinsGC ENSP00000501301.1:p.Ala623=
ENST00000673741.1:n.901_902delinsGC
ENST00000673889.1:n.1249_1250delinsGC
ENST00000673897.1:c.*1659_*1660delinsGC ENSP00000501109.1:n.*1659_*1660delinsGC
ENST00000673899.1:c.1135_1136delinsGC ENSP00000501030.1:p.Ala379=
ENST00000673947.1:c.*2007_*2008delinsGC ENSP00000501304.1:n.*2007_*2008delinsGC
ENST00000673972.1:c.*1745_*1746delinsGC ENSP00000501281.1:n.*1745_*1746delinsGC
ENST00000674019.1:c.1144_1145delinsGC ENSP00000501081.1:p.Ala382=
ENST00000674111.1:c.*96_*97delinsGC ENSP00000501162.1:n.*96_*97delinsGC
ENST00000674125.1:n.578_579delinsGC
ENST00000231790.6:c.1867_1868delinsGC ENSP00000231790.2:p.Ala623=
ENST00000413740.1:c.291-2832_291-2831delinsGC ENSP00000416476.1:n.291-2832_291-2831delinsGC
ENST00000435176.5:c.1573_1574delinsGC ENSP00000402564.1:p.Ala525=
ENST00000450420.5:c.182-2832_182-2831delinsGC ENSP00000393006.1:n.182-2832_182-2831delinsGC
ENST00000455445.6:c.1144_1145delinsGC ENSP00000398272.2:p.Ala382=
ENST00000456676.6:c.1842_1843delinsGC
ENST00000458205.6:c.1144_1145delinsGC ENSP00000402667.2:p.Ala382=
ENST00000536378.5:c.1144_1145delinsGC ENSP00000444286.2:p.Ala382=
ENST00000539477.5:c.1144_1145delinsGC ENSP00000443665.1:p.Ala382=
ENST00000616768.4:c.635_636delinsGC
NM_000249.3:c.1867_1868delinsGC , LRG_216t1:c.1867_1868delinsGC NP_000240.1:p.Ala623=
NM_001167617.1:c.1573_1574delinsGC NP_001161089.1:p.Ala525=
NM_001167618.1:c.1144_1145delinsGC NP_001161090.1:p.Ala382=
NM_001167619.1:c.1144_1145delinsGC NP_001161091.1:p.Ala382=
NM_001258271.1:c.1867_1868delinsGC NP_001245200.1:p.Ala623=
NM_001258273.1:c.1144_1145delinsGC NP_001245202.1:p.Ala382=
NM_001258274.1:c.1144_1145delinsGC NP_001245203.1:p.Ala382=
XM_005265161.1:c.1660_1661delinsGC XP_005265218.1:p.Ala554=
XM_005265163.1:c.1144_1145delinsGC XP_005265220.1:p.Ala382=
XM_005265164.1:c.1144_1145delinsGC XP_005265221.1:p.Ala382=
XM_005265166.1:c.844_845delinsGC XP_005265223.1:p.Ala282=
XM_011533727.1:c.793_794delinsGC XP_011532029.1:p.Ala265=
NM_001167617.2:c.1573_1574delinsGC NP_001161089.1:p.Ala525=
NM_001167618.2:c.1144_1145delinsGC NP_001161090.1:p.Ala382=
NM_001167619.2:c.1144_1145delinsGC NP_001161091.1:p.Ala382=
NM_001258274.2:c.1144_1145delinsGC NP_001245203.1:p.Ala382=
NM_001354615.1:c.1144_1145delinsGC NP_001341544.1:p.Ala382=
NM_001354616.1:c.1144_1145delinsGC NP_001341545.1:p.Ala382=
NM_001354617.1:c.1144_1145delinsGC NP_001341546.1:p.Ala382=
NM_001354618.1:c.1144_1145delinsGC NP_001341547.1:p.Ala382=
NM_001354619.1:c.1144_1145delinsGC NP_001341548.1:p.Ala382=
NM_001354620.1:c.1573_1574delinsGC NP_001341549.1:p.Ala525=
NM_001354621.1:c.844_845delinsGC NP_001341550.1:p.Ala282=
NM_001354622.1:c.844_845delinsGC NP_001341551.1:p.Ala282=
NM_001354623.1:c.844_845delinsGC NP_001341552.1:p.Ala282=
NM_001354624.1:c.793_794delinsGC NP_001341553.1:p.Ala265=
NM_001354625.1:c.793_794delinsGC NP_001341554.1:p.Ala265=
NM_001354626.1:c.793_794delinsGC NP_001341555.1:p.Ala265=
NM_001354627.1:c.793_794delinsGC NP_001341556.1:p.Ala265=
NM_001354628.1:c.1867_1868delinsGC NP_001341557.1:p.Ala623=
NM_001354629.1:c.1768_1769delinsGC NP_001341558.1:p.Ala590=
NM_001354630.1:c.1732-863_1732-862delinsGC NP_001341559.1:n.1732-863_1732-862delinsGC
XM_005265161.2:c.1660_1661delinsGC XP_005265218.1:p.Ala554=
XM_017006450.2:c.844_845delinsGC XP_016861939.1:p.Ala282=
NM_000249.4:c.1867_1868delinsGC MANE Select NP_000240.1:p.Ala623=
NM_001167617.3:c.1573_1574delinsGC NP_001161089.1:p.Ala525=
NM_001167618.3:c.1144_1145delinsGC NP_001161090.1:p.Ala382=
NM_001167619.3:c.1144_1145delinsGC NP_001161091.1:p.Ala382=
NM_001258271.2:c.1867_1868delinsGC NP_001245200.1:p.Ala623=
NM_001258273.2:c.1144_1145delinsGC NP_001245202.1:p.Ala382=
NM_001258274.3:c.1144_1145delinsGC NP_001245203.1:p.Ala382=
NM_001354615.2:c.1144_1145delinsGC NP_001341544.1:p.Ala382=
NM_001354616.2:c.1144_1145delinsGC NP_001341545.1:p.Ala382=
NM_001354617.2:c.1144_1145delinsGC NP_001341546.1:p.Ala382=
NM_001354618.2:c.1144_1145delinsGC NP_001341547.1:p.Ala382=
NM_001354619.2:c.1144_1145delinsGC NP_001341548.1:p.Ala382=
NM_001354620.2:c.1573_1574delinsGC NP_001341549.1:p.Ala525=
NM_001354621.2:c.844_845delinsGC NP_001341550.1:p.Ala282=
NM_001354622.2:c.844_845delinsGC NP_001341551.1:p.Ala282=
NM_001354623.2:c.844_845delinsGC NP_001341552.1:p.Ala282=
NM_001354624.2:c.793_794delinsGC NP_001341553.1:p.Ala265=
NM_001354625.2:c.793_794delinsGC NP_001341554.1:p.Ala265=
NM_001354626.2:c.793_794delinsGC NP_001341555.1:p.Ala265=
NM_001354627.2:c.793_794delinsGC NP_001341556.1:p.Ala265=
NM_001354628.2:c.1867_1868delinsGC NP_001341557.1:p.Ala623=
NM_001354629.2:c.1768_1769delinsGC NP_001341558.1:p.Ala590=
NM_001354630.2:c.1732-863_1732-862delinsGC NP_001341559.1:n.1732-863_1732-862delinsGC