Canonical Allele Identifier: CA1357874405
Gene: MLH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37012622_37012623delinsTC , CM000665.2:g.37012622_37012623delinsTC GRCh38
NC_000003.11:g.37054113_37054114delinsTC , CM000665.1:g.37054113_37054114delinsTC GRCh37
NC_000003.10:g.37029117_37029118delinsTC NCBI36
NG_007109.2:g.24273_24274delinsTC , LRG_216:g.24273_24274delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.677+523_677+524delinsTC ENSP00000416476.2:n.677+523_677+524delinsTC
ENST00000429117.6:c.383+523_383+524delinsTC ENSP00000407019.2:n.383+523_383+524delinsTC
ENST00000450420.6:c.677+523_677+524delinsTC ENSP00000393006.2:n.677+523_677+524delinsTC
ENST00000456676.7:c.677+523_677+524delinsTC ENSP00000416687.3:n.677+523_677+524delinsTC
ENST00000458009.6:c.677+523_677+524delinsTC ENSP00000411066.2:n.677+523_677+524delinsTC
ENST00000492474.6:c.-47+523_-47+524delinsTC ENSP00000518393.1:n.-47+523_-47+524delinsTC
ENST00000616768.6:c.677+523_677+524delinsTC ENSP00000480669.3:n.677+523_677+524delinsTC
ENST00000673673.2:c.677+523_677+524delinsTC ENSP00000500979.2:n.677+523_677+524delinsTC
ENST00000231790.8:c.677+523_677+524delinsTC MANE Select ENSP00000231790.3:n.677+523_677+524delinsTC
ENST00000413212.2:c.-47+523_-47+524delinsTC ENSP00000400844.2:n.-47+523_-47+524delinsTC
ENST00000432299.6:c.*757+523_*757+524delinsTC ENSP00000416783.1:n.*757+523_*757+524delinsTC
ENST00000441265.6:c.-47+523_-47+524delinsTC ENSP00000398392.2:n.-47+523_-47+524delinsTC
ENST00000442249.6:n.692+523_692+524delinsTC
ENST00000447829.6:c.314+523_314+524delinsTC ENSP00000399329.2:n.314+523_314+524delinsTC
ENST00000539477.6:c.-47+523_-47+524delinsTC ENSP00000443665.1:n.-47+523_-47+524delinsTC
ENST00000673673.1:c.630+523_630+524delinsTC
ENST00000673713.1:n.708+523_708+524delinsTC
ENST00000673715.1:c.677+523_677+524delinsTC ENSP00000501301.1:n.677+523_677+524delinsTC
ENST00000673897.1:c.*469+523_*469+524delinsTC ENSP00000501109.1:n.*469+523_*469+524delinsTC
ENST00000673899.1:c.677+523_677+524delinsTC ENSP00000501030.1:n.677+523_677+524delinsTC
ENST00000673947.1:c.*817+523_*817+524delinsTC ENSP00000501304.1:n.*817+523_*817+524delinsTC
ENST00000673972.1:c.*555+523_*555+524delinsTC ENSP00000501281.1:n.*555+523_*555+524delinsTC
ENST00000673990.1:n.662+523_662+524delinsTC
ENST00000674019.1:c.-47+523_-47+524delinsTC ENSP00000501081.1:n.-47+523_-47+524delinsTC
ENST00000674107.1:n.619+523_619+524delinsTC
ENST00000674111.1:c.677+523_677+524delinsTC ENSP00000501162.1:n.677+523_677+524delinsTC
ENST00000231790.6:c.677+523_677+524delinsTC ENSP00000231790.2:n.677+523_677+524delinsTC
ENST00000435176.5:c.383+523_383+524delinsTC ENSP00000402564.1:n.383+523_383+524delinsTC
ENST00000441265.5:c.-47+523_-47+524delinsTC ENSP00000398392.1:n.-47+523_-47+524delinsTC
ENST00000447829.5:c.58+523_58+524delinsTC
ENST00000455445.6:c.-47+523_-47+524delinsTC ENSP00000398272.2:n.-47+523_-47+524delinsTC
ENST00000456676.6:c.652+523_652+524delinsTC
ENST00000457004.5:c.*456+523_*456+524delinsTC ENSP00000407773.1:n.*456+523_*456+524delinsTC
ENST00000458009.5:c.18+523_18+524delinsTC
ENST00000458205.6:c.-47+523_-47+524delinsTC ENSP00000402667.2:n.-47+523_-47+524delinsTC
ENST00000536378.5:c.-47+523_-47+524delinsTC ENSP00000444286.2:n.-47+523_-47+524delinsTC
ENST00000539477.5:c.-47+523_-47+524delinsTC ENSP00000443665.1:n.-47+523_-47+524delinsTC
NM_000249.3:c.677+523_677+524delinsTC , LRG_216t1:c.677+523_677+524delinsTC NP_000240.1:n.677+523_677+524delinsTC
NM_001167617.1:c.383+523_383+524delinsTC NP_001161089.1:n.383+523_383+524delinsTC
NM_001167618.1:c.-47+523_-47+524delinsTC NP_001161090.1:n.-47+523_-47+524delinsTC
NM_001167619.1:c.-47+523_-47+524delinsTC NP_001161091.1:n.-47+523_-47+524delinsTC
NM_001258271.1:c.677+523_677+524delinsTC NP_001245200.1:n.677+523_677+524delinsTC
NM_001258273.1:c.-47+523_-47+524delinsTC NP_001245202.1:n.-47+523_-47+524delinsTC
NM_001258274.1:c.-47+523_-47+524delinsTC NP_001245203.1:n.-47+523_-47+524delinsTC
XM_005265161.1:c.677+523_677+524delinsTC XP_005265218.1:n.677+523_677+524delinsTC
XM_005265163.1:c.-47+523_-47+524delinsTC XP_005265220.1:n.-47+523_-47+524delinsTC
XM_005265164.1:c.-47+523_-47+524delinsTC XP_005265221.1:n.-47+523_-47+524delinsTC
XM_005265166.1:c.-253+523_-253+524delinsTC XP_005265223.1:n.-253+523_-253+524delinsTC
XM_011533727.1:c.-150+523_-150+524delinsTC XP_011532029.1:n.-150+523_-150+524delinsTC
NM_001167617.2:c.383+523_383+524delinsTC NP_001161089.1:n.383+523_383+524delinsTC
NM_001167618.2:c.-47+523_-47+524delinsTC NP_001161090.1:n.-47+523_-47+524delinsTC
NM_001167619.2:c.-47+523_-47+524delinsTC NP_001161091.1:n.-47+523_-47+524delinsTC
NM_001258274.2:c.-47+523_-47+524delinsTC NP_001245203.1:n.-47+523_-47+524delinsTC
NM_001354615.1:c.-47+523_-47+524delinsTC NP_001341544.1:n.-47+523_-47+524delinsTC
NM_001354616.1:c.-47+523_-47+524delinsTC NP_001341545.1:n.-47+523_-47+524delinsTC
NM_001354617.1:c.-47+523_-47+524delinsTC NP_001341546.1:n.-47+523_-47+524delinsTC
NM_001354618.1:c.-47+523_-47+524delinsTC NP_001341547.1:n.-47+523_-47+524delinsTC
NM_001354619.1:c.-47+523_-47+524delinsTC NP_001341548.1:n.-47+523_-47+524delinsTC
NM_001354620.1:c.383+523_383+524delinsTC NP_001341549.1:n.383+523_383+524delinsTC
NM_001354621.1:c.-140+523_-140+524delinsTC NP_001341550.1:n.-140+523_-140+524delinsTC
NM_001354622.1:c.-253+523_-253+524delinsTC NP_001341551.1:n.-253+523_-253+524delinsTC
NM_001354623.1:c.-253+523_-253+524delinsTC NP_001341552.1:n.-253+523_-253+524delinsTC
NM_001354624.1:c.-150+523_-150+524delinsTC NP_001341553.1:n.-150+523_-150+524delinsTC
NM_001354625.1:c.-150+523_-150+524delinsTC NP_001341554.1:n.-150+523_-150+524delinsTC
NM_001354626.1:c.-150+523_-150+524delinsTC NP_001341555.1:n.-150+523_-150+524delinsTC
NM_001354627.1:c.-150+523_-150+524delinsTC NP_001341556.1:n.-150+523_-150+524delinsTC
NM_001354628.1:c.677+523_677+524delinsTC NP_001341557.1:n.677+523_677+524delinsTC
NM_001354629.1:c.578+523_578+524delinsTC NP_001341558.1:n.578+523_578+524delinsTC
NM_001354630.1:c.677+523_677+524delinsTC NP_001341559.1:n.677+523_677+524delinsTC
XM_005265161.2:c.677+523_677+524delinsTC XP_005265218.1:n.677+523_677+524delinsTC
XM_017006450.2:c.-140+523_-140+524delinsTC XP_016861939.1:n.-140+523_-140+524delinsTC
NM_000249.4:c.677+523_677+524delinsTC MANE Select NP_000240.1:n.677+523_677+524delinsTC
NM_001167617.3:c.383+523_383+524delinsTC NP_001161089.1:n.383+523_383+524delinsTC
NM_001167618.3:c.-47+523_-47+524delinsTC NP_001161090.1:n.-47+523_-47+524delinsTC
NM_001167619.3:c.-47+523_-47+524delinsTC NP_001161091.1:n.-47+523_-47+524delinsTC
NM_001258271.2:c.677+523_677+524delinsTC NP_001245200.1:n.677+523_677+524delinsTC
NM_001258273.2:c.-47+523_-47+524delinsTC NP_001245202.1:n.-47+523_-47+524delinsTC
NM_001258274.3:c.-47+523_-47+524delinsTC NP_001245203.1:n.-47+523_-47+524delinsTC
NM_001354615.2:c.-47+523_-47+524delinsTC NP_001341544.1:n.-47+523_-47+524delinsTC
NM_001354616.2:c.-47+523_-47+524delinsTC NP_001341545.1:n.-47+523_-47+524delinsTC
NM_001354617.2:c.-47+523_-47+524delinsTC NP_001341546.1:n.-47+523_-47+524delinsTC
NM_001354618.2:c.-47+523_-47+524delinsTC NP_001341547.1:n.-47+523_-47+524delinsTC
NM_001354619.2:c.-47+523_-47+524delinsTC NP_001341548.1:n.-47+523_-47+524delinsTC
NM_001354620.2:c.383+523_383+524delinsTC NP_001341549.1:n.383+523_383+524delinsTC
NM_001354621.2:c.-140+523_-140+524delinsTC NP_001341550.1:n.-140+523_-140+524delinsTC
NM_001354622.2:c.-253+523_-253+524delinsTC NP_001341551.1:n.-253+523_-253+524delinsTC
NM_001354623.2:c.-253+523_-253+524delinsTC NP_001341552.1:n.-253+523_-253+524delinsTC
NM_001354624.2:c.-150+523_-150+524delinsTC NP_001341553.1:n.-150+523_-150+524delinsTC
NM_001354625.2:c.-150+523_-150+524delinsTC NP_001341554.1:n.-150+523_-150+524delinsTC
NM_001354626.2:c.-150+523_-150+524delinsTC NP_001341555.1:n.-150+523_-150+524delinsTC
NM_001354627.2:c.-150+523_-150+524delinsTC NP_001341556.1:n.-150+523_-150+524delinsTC
NM_001354628.2:c.677+523_677+524delinsTC NP_001341557.1:n.677+523_677+524delinsTC
NM_001354629.2:c.578+523_578+524delinsTC NP_001341558.1:n.578+523_578+524delinsTC
NM_001354630.2:c.677+523_677+524delinsTC NP_001341559.1:n.677+523_677+524delinsTC
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