Canonical Allele Identifier: CA1357890889
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37048815_37048821delinsTTTTAGC , CM000665.2:g.37048815_37048821delinsTTTTAGC GRCh38
NC_000003.11:g.37090306_37090312delinsTTTTAGC , CM000665.1:g.37090306_37090312delinsTTTTAGC GRCh37
NC_000003.10:g.37065310_37065316delinsTTTTAGC NCBI36
NG_007109.2:g.60466_60472delinsTTTTAGC , LRG_216:g.60466_60472delinsTTTTAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-1671_1668-1665delinsTTTTAGC ENSP00000416476.2:n.1668-1671_1668-1665delinsTTTTAGC
ENST00000429117.6:c.1696-89_1696-83delinsTTTTAGC ENSP00000407019.2:n.1696-89_1696-83delinsTTTTAGC
ENST00000450420.6:c.1559-1671_1559-1665delinsTTTTAGC ENSP00000393006.2:n.1559-1671_1559-1665delinsTTTTAGC
ENST00000456676.7:c.1896+1132_1896+1138delinsTTTTAGC ENSP00000416687.3:n.1896+1132_1896+1138delinsTTTTAGC
ENST00000492474.6:c.1267-89_1267-83delinsTTTTAGC ENSP00000518393.1:n.1267-89_1267-83delinsTTTTAGC
ENST00000616768.6:c.1897-89_1897-83delinsTTTTAGC ENSP00000480669.3:n.1897-89_1897-83delinsTTTTAGC
ENST00000673673.2:c.1825-89_1825-83delinsTTTTAGC ENSP00000500979.2:n.1825-89_1825-83delinsTTTTAGC
ENST00000231790.8:c.1990-89_1990-83delinsTTTTAGC MANE Select ENSP00000231790.3:n.1990-89_1990-83delinsTTTTAGC
ENST00000413212.2:c.*908-89_*908-83delinsTTTTAGC ENSP00000400844.2:n.*908-89_*908-83delinsTTTTAGC
ENST00000432299.6:c.*1822-89_*1822-83delinsTTTTAGC ENSP00000416783.1:n.*1822-89_*1822-83delinsTTTTAGC
ENST00000447829.6:c.*1101-89_*1101-83delinsTTTTAGC ENSP00000399329.2:n.*1101-89_*1101-83delinsTTTTAGC
ENST00000539477.6:c.1267-89_1267-83delinsTTTTAGC ENSP00000443665.1:n.1267-89_1267-83delinsTTTTAGC
ENST00000616768.5:c.934-89_934-83delinsTTTTAGC ENSP00000480669.2:n.934-89_934-83delinsTTTTAGC
ENST00000673673.1:c.1778-89_1778-83delinsTTTTAGC
ENST00000673741.1:n.1024-89_1024-83delinsTTTTAGC
ENST00000673889.1:n.1372-89_1372-83delinsTTTTAGC
ENST00000673897.1:c.*1782-89_*1782-83delinsTTTTAGC ENSP00000501109.1:n.*1782-89_*1782-83delinsTTTTAGC
ENST00000673899.1:c.1258-89_1258-83delinsTTTTAGC ENSP00000501030.1:n.1258-89_1258-83delinsTTTTAGC
ENST00000673947.1:c.*2130-89_*2130-83delinsTTTTAGC ENSP00000501304.1:n.*2130-89_*2130-83delinsTTTTAGC
ENST00000673972.1:c.*1868-89_*1868-83delinsTTTTAGC ENSP00000501281.1:n.*1868-89_*1868-83delinsTTTTAGC
ENST00000674019.1:c.1267-89_1267-83delinsTTTTAGC ENSP00000501081.1:n.1267-89_1267-83delinsTTTTAGC
ENST00000674111.1:c.*219-89_*219-83delinsTTTTAGC ENSP00000501162.1:n.*219-89_*219-83delinsTTTTAGC
ENST00000674125.1:n.701-89_701-83delinsTTTTAGC
ENST00000231790.6:c.1990-89_1990-83delinsTTTTAGC ENSP00000231790.2:n.1990-89_1990-83delinsTTTTAGC
ENST00000413740.1:c.291-1671_291-1665delinsTTTTAGC ENSP00000416476.1:n.291-1671_291-1665delinsTTTTAGC
ENST00000435176.5:c.1696-89_1696-83delinsTTTTAGC ENSP00000402564.1:n.1696-89_1696-83delinsTTTTAGC
ENST00000450420.5:c.182-1671_182-1665delinsTTTTAGC ENSP00000393006.1:n.182-1671_182-1665delinsTTTTAGC
ENST00000455445.6:c.1267-89_1267-83delinsTTTTAGC ENSP00000398272.2:n.1267-89_1267-83delinsTTTTAGC
ENST00000456676.6:c.1871+1132_1871+1138delinsTTTTAGC
ENST00000458205.6:c.1267-89_1267-83delinsTTTTAGC ENSP00000402667.2:n.1267-89_1267-83delinsTTTTAGC
ENST00000536378.5:c.1267-89_1267-83delinsTTTTAGC ENSP00000444286.2:n.1267-89_1267-83delinsTTTTAGC
ENST00000539477.5:c.1267-89_1267-83delinsTTTTAGC ENSP00000443665.1:n.1267-89_1267-83delinsTTTTAGC
NM_000249.3:c.1990-89_1990-83delinsTTTTAGC , LRG_216t1:c.1990-89_1990-83delinsTTTTAGC NP_000240.1:n.1990-89_1990-83delinsTTTTAGC
NM_001167617.1:c.1696-89_1696-83delinsTTTTAGC NP_001161089.1:n.1696-89_1696-83delinsTTTTAGC
NM_001167618.1:c.1267-89_1267-83delinsTTTTAGC NP_001161090.1:n.1267-89_1267-83delinsTTTTAGC
NM_001167619.1:c.1267-89_1267-83delinsTTTTAGC NP_001161091.1:n.1267-89_1267-83delinsTTTTAGC
NM_001258271.1:c.1896+1132_1896+1138delinsTTTTAGC NP_001245200.1:n.1896+1132_1896+1138delinsTTTTAGC
NM_001258273.1:c.1267-89_1267-83delinsTTTTAGC NP_001245202.1:n.1267-89_1267-83delinsTTTTAGC
NM_001258274.1:c.1267-89_1267-83delinsTTTTAGC NP_001245203.1:n.1267-89_1267-83delinsTTTTAGC
XM_005265161.1:c.1783-89_1783-83delinsTTTTAGC XP_005265218.1:n.1783-89_1783-83delinsTTTTAGC
XM_005265163.1:c.1267-89_1267-83delinsTTTTAGC XP_005265220.1:n.1267-89_1267-83delinsTTTTAGC
XM_005265164.1:c.1267-89_1267-83delinsTTTTAGC XP_005265221.1:n.1267-89_1267-83delinsTTTTAGC
XM_005265166.1:c.967-89_967-83delinsTTTTAGC XP_005265223.1:n.967-89_967-83delinsTTTTAGC
XM_011533727.1:c.916-89_916-83delinsTTTTAGC XP_011532029.1:n.916-89_916-83delinsTTTTAGC
NM_001167617.2:c.1696-89_1696-83delinsTTTTAGC NP_001161089.1:n.1696-89_1696-83delinsTTTTAGC
NM_001167618.2:c.1267-89_1267-83delinsTTTTAGC NP_001161090.1:n.1267-89_1267-83delinsTTTTAGC
NM_001167619.2:c.1267-89_1267-83delinsTTTTAGC NP_001161091.1:n.1267-89_1267-83delinsTTTTAGC
NM_001258274.2:c.1267-89_1267-83delinsTTTTAGC NP_001245203.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354615.1:c.1267-89_1267-83delinsTTTTAGC NP_001341544.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354616.1:c.1267-89_1267-83delinsTTTTAGC NP_001341545.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354617.1:c.1267-89_1267-83delinsTTTTAGC NP_001341546.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354618.1:c.1267-89_1267-83delinsTTTTAGC NP_001341547.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354619.1:c.1267-89_1267-83delinsTTTTAGC NP_001341548.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354620.1:c.1696-89_1696-83delinsTTTTAGC NP_001341549.1:n.1696-89_1696-83delinsTTTTAGC
NM_001354621.1:c.967-89_967-83delinsTTTTAGC NP_001341550.1:n.967-89_967-83delinsTTTTAGC
NM_001354622.1:c.967-89_967-83delinsTTTTAGC NP_001341551.1:n.967-89_967-83delinsTTTTAGC
NM_001354623.1:c.967-89_967-83delinsTTTTAGC NP_001341552.1:n.967-89_967-83delinsTTTTAGC
NM_001354624.1:c.916-89_916-83delinsTTTTAGC NP_001341553.1:n.916-89_916-83delinsTTTTAGC
NM_001354625.1:c.916-89_916-83delinsTTTTAGC NP_001341554.1:n.916-89_916-83delinsTTTTAGC
NM_001354626.1:c.916-89_916-83delinsTTTTAGC NP_001341555.1:n.916-89_916-83delinsTTTTAGC
NM_001354627.1:c.916-89_916-83delinsTTTTAGC NP_001341556.1:n.916-89_916-83delinsTTTTAGC
NM_001354628.1:c.1897-89_1897-83delinsTTTTAGC NP_001341557.1:n.1897-89_1897-83delinsTTTTAGC
NM_001354629.1:c.1891-89_1891-83delinsTTTTAGC NP_001341558.1:n.1891-89_1891-83delinsTTTTAGC
NM_001354630.1:c.1825-89_1825-83delinsTTTTAGC NP_001341559.1:n.1825-89_1825-83delinsTTTTAGC
XM_005265161.2:c.1783-89_1783-83delinsTTTTAGC XP_005265218.1:n.1783-89_1783-83delinsTTTTAGC
XM_017006450.2:c.967-89_967-83delinsTTTTAGC XP_016861939.1:n.967-89_967-83delinsTTTTAGC
NM_000249.4:c.1990-89_1990-83delinsTTTTAGC MANE Select NP_000240.1:n.1990-89_1990-83delinsTTTTAGC
NM_001167617.3:c.1696-89_1696-83delinsTTTTAGC NP_001161089.1:n.1696-89_1696-83delinsTTTTAGC
NM_001167618.3:c.1267-89_1267-83delinsTTTTAGC NP_001161090.1:n.1267-89_1267-83delinsTTTTAGC
NM_001167619.3:c.1267-89_1267-83delinsTTTTAGC NP_001161091.1:n.1267-89_1267-83delinsTTTTAGC
NM_001258271.2:c.1896+1132_1896+1138delinsTTTTAGC NP_001245200.1:n.1896+1132_1896+1138delinsTTTTAGC
NM_001258273.2:c.1267-89_1267-83delinsTTTTAGC NP_001245202.1:n.1267-89_1267-83delinsTTTTAGC
NM_001258274.3:c.1267-89_1267-83delinsTTTTAGC NP_001245203.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354615.2:c.1267-89_1267-83delinsTTTTAGC NP_001341544.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354616.2:c.1267-89_1267-83delinsTTTTAGC NP_001341545.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354617.2:c.1267-89_1267-83delinsTTTTAGC NP_001341546.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354618.2:c.1267-89_1267-83delinsTTTTAGC NP_001341547.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354619.2:c.1267-89_1267-83delinsTTTTAGC NP_001341548.1:n.1267-89_1267-83delinsTTTTAGC
NM_001354620.2:c.1696-89_1696-83delinsTTTTAGC NP_001341549.1:n.1696-89_1696-83delinsTTTTAGC
NM_001354621.2:c.967-89_967-83delinsTTTTAGC NP_001341550.1:n.967-89_967-83delinsTTTTAGC
NM_001354622.2:c.967-89_967-83delinsTTTTAGC NP_001341551.1:n.967-89_967-83delinsTTTTAGC
NM_001354623.2:c.967-89_967-83delinsTTTTAGC NP_001341552.1:n.967-89_967-83delinsTTTTAGC
NM_001354624.2:c.916-89_916-83delinsTTTTAGC NP_001341553.1:n.916-89_916-83delinsTTTTAGC
NM_001354625.2:c.916-89_916-83delinsTTTTAGC NP_001341554.1:n.916-89_916-83delinsTTTTAGC
NM_001354626.2:c.916-89_916-83delinsTTTTAGC NP_001341555.1:n.916-89_916-83delinsTTTTAGC
NM_001354627.2:c.916-89_916-83delinsTTTTAGC NP_001341556.1:n.916-89_916-83delinsTTTTAGC
NM_001354628.2:c.1897-89_1897-83delinsTTTTAGC NP_001341557.1:n.1897-89_1897-83delinsTTTTAGC
NM_001354629.2:c.1891-89_1891-83delinsTTTTAGC NP_001341558.1:n.1891-89_1891-83delinsTTTTAGC
NM_001354630.2:c.1825-89_1825-83delinsTTTTAGC NP_001341559.1:n.1825-89_1825-83delinsTTTTAGC