Canonical Allele Identifier: CA16617926
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419369
ClinVar RCV Id: RCV000480892
dbSNP Id: rs1064793823

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047523_37047524insGT , CM000665.2:g.37047523_37047524insGT GRCh38
NC_000003.11:g.37089014_37089015insGT , CM000665.1:g.37089014_37089015insGT GRCh37
NC_000003.10:g.37064018_37064019insGT NCBI36
NG_007109.2:g.59174_59175insGT , LRG_216:g.59174_59175insGT

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1668-2963_1668-2962insGT ENSP00000416476.2:n.1668-2963_1668-2962in...
ENST00000429117.6:c.1442_1443insGT ENSP00000407019.2:p.Ala482Ter
ENST00000450420.6:c.1559-2963_1559-2962insGT ENSP00000393006.2:n.1559-2963_1559-2962in...
ENST00000456676.7:c.1736_1737insGT ENSP00000416687.3:p.Ala580Ter
ENST00000492474.6:c.1013_1014insGT ENSP00000518393.1:p.Ala339Ter
ENST00000616768.6:c.1736_1737insGT ENSP00000480669.3:p.Ala580Ter
ENST00000673673.2:c.1732-994_1732-993insGT ENSP00000500979.2:n.1732-994_1732-993insG...
ENST00000231790.8:c.1736_1737insGT MANE Select ENSP00000231790.3:p.Ala580Ter
ENST00000413212.2:c.*654_*655insGT ENSP00000400844.2:n.*654_*655insGT
ENST00000432299.6:c.*1568_*1569insGT ENSP00000416783.1:n.*1568_*1569insGT
ENST00000441265.6:c.949_950insGT ENSP00000398392.2:p.Gln317ArgfsTer6
ENST00000447829.6:c.*847_*848insGT ENSP00000399329.2:n.*847_*848insGT
ENST00000539477.6:c.1013_1014insGT ENSP00000443665.1:p.Ala339Ter
ENST00000616768.5:c.773_774insGT ENSP00000480669.2:p.Ala259Ter
ENST00000673673.1:c.1685-994_1685-993insGT
ENST00000673715.1:c.1736_1737insGT ENSP00000501301.1:p.Ala580Ter
ENST00000673741.1:n.770_771insGT
ENST00000673889.1:n.1118_1119insGT
ENST00000673897.1:c.*1528_*1529insGT ENSP00000501109.1:n.*1528_*1529insGT
ENST00000673899.1:c.1004_1005insGT ENSP00000501030.1:p.Ala336Ter
ENST00000673947.1:c.*1876_*1877insGT ENSP00000501304.1:n.*1876_*1877insGT
ENST00000673972.1:c.*1614_*1615insGT ENSP00000501281.1:n.*1614_*1615insGT
ENST00000673990.1:n.1627_1628insGT
ENST00000674019.1:c.1013_1014insGT ENSP00000501081.1:p.Ala339Ter
ENST00000674111.1:c.1672_1673insGT ENSP00000501162.1:p.Gln558ArgfsTer6
ENST00000674125.1:n.447_448insGT
ENST00000231790.6:c.1736_1737insGT ENSP00000231790.2:p.Ala580Ter
ENST00000413740.1:c.291-2963_291-2962insGT ENSP00000416476.1:n.291-2963_291-2962insG...
ENST00000435176.5:c.1442_1443insGT ENSP00000402564.1:p.Ala482Ter
ENST00000450420.5:c.182-2963_182-2962insGT ENSP00000393006.1:n.182-2963_182-2962insG...
ENST00000455445.6:c.1013_1014insGT ENSP00000398272.2:p.Ala339Ter
ENST00000456676.6:c.1711_1712insGT
ENST00000458205.6:c.1013_1014insGT ENSP00000402667.2:p.Ala339Ter
ENST00000536378.5:c.1013_1014insGT ENSP00000444286.2:p.Ala339Ter
ENST00000539477.5:c.1013_1014insGT ENSP00000443665.1:p.Ala339Ter
ENST00000616768.4:c.504_505insGT
NM_000249.3:c.1736_1737insGT , LRG_216t1:c.1736_1737insGT NP_000240.1:p.Ala580Ter
NM_001167617.1:c.1442_1443insGT NP_001161089.1:p.Ala482Ter
NM_001167618.1:c.1013_1014insGT NP_001161090.1:p.Ala339Ter
NM_001167619.1:c.1013_1014insGT NP_001161091.1:p.Ala339Ter
NM_001258271.1:c.1736_1737insGT NP_001245200.1:p.Ala580Ter
NM_001258273.1:c.1013_1014insGT NP_001245202.1:p.Ala339Ter
NM_001258274.1:c.1013_1014insGT NP_001245203.1:p.Ala339Ter
XM_005265161.1:c.1529_1530insGT XP_005265218.1:p.Ala511Ter
XM_005265163.1:c.1013_1014insGT XP_005265220.1:p.Ala339Ter
XM_005265164.1:c.1013_1014insGT XP_005265221.1:p.Ala339Ter
XM_005265166.1:c.713_714insGT XP_005265223.1:p.Ala239Ter
XM_011533727.1:c.662_663insGT XP_011532029.1:p.Ala222Ter
NM_001167617.2:c.1442_1443insGT NP_001161089.1:p.Ala482Ter
NM_001167618.2:c.1013_1014insGT NP_001161090.1:p.Ala339Ter
NM_001167619.2:c.1013_1014insGT NP_001161091.1:p.Ala339Ter
NM_001258274.2:c.1013_1014insGT NP_001245203.1:p.Ala339Ter
NM_001354615.1:c.1013_1014insGT NP_001341544.1:p.Ala339Ter
NM_001354616.1:c.1013_1014insGT NP_001341545.1:p.Ala339Ter
NM_001354617.1:c.1013_1014insGT NP_001341546.1:p.Ala339Ter
NM_001354618.1:c.1013_1014insGT NP_001341547.1:p.Ala339Ter
NM_001354619.1:c.1013_1014insGT NP_001341548.1:p.Ala339Ter
NM_001354620.1:c.1442_1443insGT NP_001341549.1:p.Ala482Ter
NM_001354621.1:c.713_714insGT NP_001341550.1:p.Ala239Ter
NM_001354622.1:c.713_714insGT NP_001341551.1:p.Ala239Ter
NM_001354623.1:c.713_714insGT NP_001341552.1:p.Ala239Ter
NM_001354624.1:c.662_663insGT NP_001341553.1:p.Ala222Ter
NM_001354625.1:c.662_663insGT NP_001341554.1:p.Ala222Ter
NM_001354626.1:c.662_663insGT NP_001341555.1:p.Ala222Ter
NM_001354627.1:c.662_663insGT NP_001341556.1:p.Ala222Ter
NM_001354628.1:c.1736_1737insGT NP_001341557.1:p.Ala580Ter
NM_001354629.1:c.1637_1638insGT NP_001341558.1:p.Ala547Ter
NM_001354630.1:c.1732-994_1732-993insGT NP_001341559.1:n.1732-994_1732-993insGT
XM_005265161.2:c.1529_1530insGT XP_005265218.1:p.Ala511Ter
XM_017006450.2:c.713_714insGT XP_016861939.1:p.Ala239Ter
NM_000249.4:c.1736_1737insGT MANE Select NP_000240.1:p.Ala580Ter
NM_001167617.3:c.1442_1443insGT NP_001161089.1:p.Ala482Ter
NM_001167618.3:c.1013_1014insGT NP_001161090.1:p.Ala339Ter
NM_001167619.3:c.1013_1014insGT NP_001161091.1:p.Ala339Ter
NM_001258271.2:c.1736_1737insGT NP_001245200.1:p.Ala580Ter
NM_001258273.2:c.1013_1014insGT NP_001245202.1:p.Ala339Ter
NM_001258274.3:c.1013_1014insGT NP_001245203.1:p.Ala339Ter
NM_001354615.2:c.1013_1014insGT NP_001341544.1:p.Ala339Ter
NM_001354616.2:c.1013_1014insGT NP_001341545.1:p.Ala339Ter
NM_001354617.2:c.1013_1014insGT NP_001341546.1:p.Ala339Ter
NM_001354618.2:c.1013_1014insGT NP_001341547.1:p.Ala339Ter
NM_001354619.2:c.1013_1014insGT NP_001341548.1:p.Ala339Ter
NM_001354620.2:c.1442_1443insGT NP_001341549.1:p.Ala482Ter
NM_001354621.2:c.713_714insGT NP_001341550.1:p.Ala239Ter
NM_001354622.2:c.713_714insGT NP_001341551.1:p.Ala239Ter
NM_001354623.2:c.713_714insGT NP_001341552.1:p.Ala239Ter
NM_001354624.2:c.662_663insGT NP_001341553.1:p.Ala222Ter
NM_001354625.2:c.662_663insGT NP_001341554.1:p.Ala222Ter
NM_001354626.2:c.662_663insGT NP_001341555.1:p.Ala222Ter
NM_001354627.2:c.662_663insGT NP_001341556.1:p.Ala222Ter
NM_001354628.2:c.1736_1737insGT NP_001341557.1:p.Ala580Ter
NM_001354629.2:c.1637_1638insGT NP_001341558.1:p.Ala547Ter
NM_001354630.2:c.1732-994_1732-993insGT NP_001341559.1:n.1732-994_1732-993insGT