Canonical Allele Identifier: CA2755848854
Gene: MLH1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047726_37047727insCCAAACACACCCAACAC , CM000665.2:g.37047726_37047727insCCAAACACACCCAACAC GRCh38
NC_000003.11:g.37089217_37089218insCCAAACACACCCAACAC , CM000665.1:g.37089217_37089218insCCAAACACACCCAACAC GRCh37
NC_000003.10:g.37064221_37064222insCCAAACACACCCAACAC NCBI36
NG_007109.2:g.59377_59378insCCAAACACACCCAACAC , LRG_216:g.59377_59378insCCAAACACACCCAACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-2760_1668-2759insCCAAACACACCCAACAC ENSP00000416476.2:n.1668-2760_1668-2759insCCAAACACACCCAACAC
ENST00000429117.6:c.1602+43_1602+44insCCAAACACACCCAACAC ENSP00000407019.2:n.1602+43_1602+44insCCAAACACACCCAACAC
ENST00000450420.6:c.1559-2760_1559-2759insCCAAACACACCCAACAC ENSP00000393006.2:n.1559-2760_1559-2759insCCAAACACACCCAACAC
ENST00000456676.7:c.1896+43_1896+44insCCAAACACACCCAACAC ENSP00000416687.3:n.1896+43_1896+44insCCAAACACACCCAACAC
ENST00000492474.6:c.1173+43_1173+44insCCAAACACACCCAACAC ENSP00000518393.1:n.1173+43_1173+44insCCAAACACACCCAACAC
ENST00000616768.6:c.1896+43_1896+44insCCAAACACACCCAACAC ENSP00000480669.3:n.1896+43_1896+44insCCAAACACACCCAACAC
ENST00000673673.2:c.1732-791_1732-790insCCAAACACACCCAACAC ENSP00000500979.2:n.1732-791_1732-790insCCAAACACACCCAACAC
ENST00000231790.8:c.1896+43_1896+44insCCAAACACACCCAACAC MANE Select ENSP00000231790.3:n.1896+43_1896+44insCCAAACACACCCAACAC
ENST00000413212.2:c.*814+43_*814+44insCCAAACACACCCAACAC ENSP00000400844.2:n.*814+43_*814+44insCCAAACACACCCAACAC
ENST00000432299.6:c.*1728+43_*1728+44insCCAAACACACCCAACAC ENSP00000416783.1:n.*1728+43_*1728+44insCCAAACACACCCAACAC
ENST00000441265.6:c.*168_*169insCCAAACACACCCAACAC ENSP00000398392.2:n.*168_*169insCCAAACACACCCAACAC
ENST00000447829.6:c.*1007+43_*1007+44insCCAAACACACCCAACAC ENSP00000399329.2:n.*1007+43_*1007+44insCCAAACACACCCAACAC
ENST00000539477.6:c.1173+43_1173+44insCCAAACACACCCAACAC ENSP00000443665.1:n.1173+43_1173+44insCCAAACACACCCAACAC
ENST00000616768.5:c.933+43_933+44insCCAAACACACCCAACAC ENSP00000480669.2:n.933+43_933+44insCCAAACACACCCAACAC
ENST00000673673.1:c.1685-791_1685-790insCCAAACACACCCAACAC
ENST00000673715.1:c.*37_*38insCCAAACACACCCAACAC ENSP00000501301.1:n.*37_*38insCCAAACACACCCAACAC
ENST00000673741.1:n.930+43_930+44insCCAAACACACCCAACAC
ENST00000673889.1:n.1278+43_1278+44insCCAAACACACCCAACAC
ENST00000673897.1:c.*1688+43_*1688+44insCCAAACACACCCAACAC ENSP00000501109.1:n.*1688+43_*1688+44insCCAAACACACCCAACAC
ENST00000673899.1:c.1164+43_1164+44insCCAAACACACCCAACAC ENSP00000501030.1:n.1164+43_1164+44insCCAAACACACCCAACAC
ENST00000673947.1:c.*2036+43_*2036+44insCCAAACACACCCAACAC ENSP00000501304.1:n.*2036+43_*2036+44insCCAAACACACCCAACAC
ENST00000673972.1:c.*1774+43_*1774+44insCCAAACACACCCAACAC ENSP00000501281.1:n.*1774+43_*1774+44insCCAAACACACCCAACAC
ENST00000674019.1:c.1173+43_1173+44insCCAAACACACCCAACAC ENSP00000501081.1:n.1173+43_1173+44insCCAAACACACCCAACAC
ENST00000674111.1:c.*125+43_*125+44insCCAAACACACCCAACAC ENSP00000501162.1:n.*125+43_*125+44insCCAAACACACCCAACAC
ENST00000674125.1:n.607+43_607+44insCCAAACACACCCAACAC
ENST00000231790.6:c.1896+43_1896+44insCCAAACACACCCAACAC ENSP00000231790.2:n.1896+43_1896+44insCCAAACACACCCAACAC
ENST00000413740.1:c.291-2760_291-2759insCCAAACACACCCAACAC ENSP00000416476.1:n.291-2760_291-2759insCCAAACACACCCAACAC
ENST00000435176.5:c.1602+43_1602+44insCCAAACACACCCAACAC ENSP00000402564.1:n.1602+43_1602+44insCCAAACACACCCAACAC
ENST00000450420.5:c.182-2760_182-2759insCCAAACACACCCAACAC ENSP00000393006.1:n.182-2760_182-2759insCCAAACACACCCAACAC
ENST00000455445.6:c.1173+43_1173+44insCCAAACACACCCAACAC ENSP00000398272.2:n.1173+43_1173+44insCCAAACACACCCAACAC
ENST00000456676.6:c.1871+43_1871+44insCCAAACACACCCAACAC
ENST00000458205.6:c.1173+43_1173+44insCCAAACACACCCAACAC ENSP00000402667.2:n.1173+43_1173+44insCCAAACACACCCAACAC
ENST00000536378.5:c.1173+43_1173+44insCCAAACACACCCAACAC ENSP00000444286.2:n.1173+43_1173+44insCCAAACACACCCAACAC
ENST00000539477.5:c.1173+43_1173+44insCCAAACACACCCAACAC ENSP00000443665.1:n.1173+43_1173+44insCCAAACACACCCAACAC
ENST00000616768.4:c.707_708insCCAAACACACCCAACAC
NM_000249.3:c.1896+43_1896+44insCCAAACACACCCAACAC , LRG_216t1:c.1896+43_1896+44insCCAAACACACCCAACAC NP_000240.1:n.1896+43_1896+44insCCAAACACACCCAACAC
NM_001167617.1:c.1602+43_1602+44insCCAAACACACCCAACAC NP_001161089.1:n.1602+43_1602+44insCCAAACACACCCAACAC
NM_001167618.1:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001161090.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001167619.1:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001161091.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001258271.1:c.1896+43_1896+44insCCAAACACACCCAACAC NP_001245200.1:n.1896+43_1896+44insCCAAACACACCCAACAC
NM_001258273.1:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001245202.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001258274.1:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001245203.1:n.1173+43_1173+44insCCAAACACACCCAACAC
XM_005265161.1:c.1689+43_1689+44insCCAAACACACCCAACAC XP_005265218.1:n.1689+43_1689+44insCCAAACACACCCAACAC
XM_005265163.1:c.1173+43_1173+44insCCAAACACACCCAACAC XP_005265220.1:n.1173+43_1173+44insCCAAACACACCCAACAC
XM_005265164.1:c.1173+43_1173+44insCCAAACACACCCAACAC XP_005265221.1:n.1173+43_1173+44insCCAAACACACCCAACAC
XM_005265166.1:c.873+43_873+44insCCAAACACACCCAACAC XP_005265223.1:n.873+43_873+44insCCAAACACACCCAACAC
XM_011533727.1:c.822+43_822+44insCCAAACACACCCAACAC XP_011532029.1:n.822+43_822+44insCCAAACACACCCAACAC
NM_001167617.2:c.1602+43_1602+44insCCAAACACACCCAACAC NP_001161089.1:n.1602+43_1602+44insCCAAACACACCCAACAC
NM_001167618.2:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001161090.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001167619.2:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001161091.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001258274.2:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001245203.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354615.1:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341544.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354616.1:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341545.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354617.1:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341546.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354618.1:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341547.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354619.1:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341548.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354620.1:c.1602+43_1602+44insCCAAACACACCCAACAC NP_001341549.1:n.1602+43_1602+44insCCAAACACACCCAACAC
NM_001354621.1:c.873+43_873+44insCCAAACACACCCAACAC NP_001341550.1:n.873+43_873+44insCCAAACACACCCAACAC
NM_001354622.1:c.873+43_873+44insCCAAACACACCCAACAC NP_001341551.1:n.873+43_873+44insCCAAACACACCCAACAC
NM_001354623.1:c.873+43_873+44insCCAAACACACCCAACAC NP_001341552.1:n.873+43_873+44insCCAAACACACCCAACAC
NM_001354624.1:c.822+43_822+44insCCAAACACACCCAACAC NP_001341553.1:n.822+43_822+44insCCAAACACACCCAACAC
NM_001354625.1:c.822+43_822+44insCCAAACACACCCAACAC NP_001341554.1:n.822+43_822+44insCCAAACACACCCAACAC
NM_001354626.1:c.822+43_822+44insCCAAACACACCCAACAC NP_001341555.1:n.822+43_822+44insCCAAACACACCCAACAC
NM_001354627.1:c.822+43_822+44insCCAAACACACCCAACAC NP_001341556.1:n.822+43_822+44insCCAAACACACCCAACAC
NM_001354628.1:c.1896+43_1896+44insCCAAACACACCCAACAC NP_001341557.1:n.1896+43_1896+44insCCAAACACACCCAACAC
NM_001354629.1:c.1797+43_1797+44insCCAAACACACCCAACAC NP_001341558.1:n.1797+43_1797+44insCCAAACACACCCAACAC
NM_001354630.1:c.1732-791_1732-790insCCAAACACACCCAACAC NP_001341559.1:n.1732-791_1732-790insCCAAACACACCCAACAC
XM_005265161.2:c.1689+43_1689+44insCCAAACACACCCAACAC XP_005265218.1:n.1689+43_1689+44insCCAAACACACCCAACAC
XM_017006450.2:c.873+43_873+44insCCAAACACACCCAACAC XP_016861939.1:n.873+43_873+44insCCAAACACACCCAACAC
NM_000249.4:c.1896+43_1896+44insCCAAACACACCCAACAC MANE Select NP_000240.1:n.1896+43_1896+44insCCAAACACACCCAACAC
NM_001167617.3:c.1602+43_1602+44insCCAAACACACCCAACAC NP_001161089.1:n.1602+43_1602+44insCCAAACACACCCAACAC
NM_001167618.3:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001161090.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001167619.3:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001161091.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001258271.2:c.1896+43_1896+44insCCAAACACACCCAACAC NP_001245200.1:n.1896+43_1896+44insCCAAACACACCCAACAC
NM_001258273.2:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001245202.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001258274.3:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001245203.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354615.2:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341544.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354616.2:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341545.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354617.2:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341546.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354618.2:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341547.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354619.2:c.1173+43_1173+44insCCAAACACACCCAACAC NP_001341548.1:n.1173+43_1173+44insCCAAACACACCCAACAC
NM_001354620.2:c.1602+43_1602+44insCCAAACACACCCAACAC NP_001341549.1:n.1602+43_1602+44insCCAAACACACCCAACAC
NM_001354621.2:c.873+43_873+44insCCAAACACACCCAACAC NP_001341550.1:n.873+43_873+44insCCAAACACACCCAACAC
NM_001354622.2:c.873+43_873+44insCCAAACACACCCAACAC NP_001341551.1:n.873+43_873+44insCCAAACACACCCAACAC
NM_001354623.2:c.873+43_873+44insCCAAACACACCCAACAC NP_001341552.1:n.873+43_873+44insCCAAACACACCCAACAC
NM_001354624.2:c.822+43_822+44insCCAAACACACCCAACAC NP_001341553.1:n.822+43_822+44insCCAAACACACCCAACAC
NM_001354625.2:c.822+43_822+44insCCAAACACACCCAACAC NP_001341554.1:n.822+43_822+44insCCAAACACACCCAACAC
NM_001354626.2:c.822+43_822+44insCCAAACACACCCAACAC NP_001341555.1:n.822+43_822+44insCCAAACACACCCAACAC
NM_001354627.2:c.822+43_822+44insCCAAACACACCCAACAC NP_001341556.1:n.822+43_822+44insCCAAACACACCCAACAC
NM_001354628.2:c.1896+43_1896+44insCCAAACACACCCAACAC NP_001341557.1:n.1896+43_1896+44insCCAAACACACCCAACAC
NM_001354629.2:c.1797+43_1797+44insCCAAACACACCCAACAC NP_001341558.1:n.1797+43_1797+44insCCAAACACACCCAACAC
NM_001354630.2:c.1732-791_1732-790insCCAAACACACCCAACAC NP_001341559.1:n.1732-791_1732-790insCCAAACACACCCAACAC
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