Canonical Allele Identifier: CA1357867197
Gene: MLH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996700_36996701delinsCG , CM000665.2:g.36996700_36996701delinsCG GRCh38
NC_000003.11:g.37038191_37038192delinsCG , CM000665.1:g.37038191_37038192delinsCG GRCh37
NC_000003.10:g.37013195_37013196delinsCG NCBI36
NG_007109.2:g.8351_8352delinsCG , LRG_216:g.8351_8352delinsCG
NG_008418.1:g.1604_1605delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.198_199delinsCG ENSP00000416476.2:p.Thr66=
ENST00000429117.6:c.-92_-91delinsCG ENSP00000407019.2:n.-92_-91delinsCG
ENST00000450420.6:c.198_199delinsCG ENSP00000393006.2:p.Thr66=
ENST00000456676.7:c.198_199delinsCG ENSP00000416687.3:p.Thr66=
ENST00000458009.6:c.198_199delinsCG ENSP00000411066.2:p.Thr66=
ENST00000492474.6:c.-526_-525delinsCG ENSP00000518393.1:n.-526_-525delinsCG
ENST00000616768.6:c.198_199delinsCG ENSP00000480669.3:p.Thr66=
ENST00000673673.2:c.198_199delinsCG ENSP00000500979.2:p.Thr66=
ENST00000231790.8:c.198_199delinsCG MANE Select ENSP00000231790.3:p.Thr66=
ENST00000413212.2:c.-526_-525delinsCG ENSP00000400844.2:n.-526_-525delinsCG
ENST00000432299.6:c.*278_*279delinsCG ENSP00000416783.1:n.*278_*279delinsCG
ENST00000441265.6:c.-526_-525delinsCG ENSP00000398392.2:n.-526_-525delinsCG
ENST00000442249.6:n.213_214delinsCG
ENST00000447829.6:c.-92_-91delinsCG ENSP00000399329.2:n.-92_-91delinsCG
ENST00000476172.6:n.1120-1270_1120-1269delinsCG
ENST00000539477.6:c.-434_-433delinsCG ENSP00000443665.1:n.-434_-433delinsCG
ENST00000673673.1:c.151_152delinsCG
ENST00000673686.1:n.188_189delinsCG
ENST00000673713.1:n.229_230delinsCG
ENST00000673715.1:c.198_199delinsCG ENSP00000501301.1:p.Thr66=
ENST00000673897.1:c.116+3037_116+3038delinsCG ENSP00000501109.1:n.116+3037_116+3038delinsCG
ENST00000673899.1:c.198_199delinsCG ENSP00000501030.1:p.Thr66=
ENST00000673947.1:c.*338_*339delinsCG ENSP00000501304.1:n.*338_*339delinsCG
ENST00000673972.1:c.*76_*77delinsCG ENSP00000501281.1:n.*76_*77delinsCG
ENST00000673990.1:n.183_184delinsCG
ENST00000674019.1:c.-526_-525delinsCG ENSP00000501081.1:n.-526_-525delinsCG
ENST00000674107.1:n.140_141delinsCG
ENST00000674111.1:c.198_199delinsCG ENSP00000501162.1:p.Thr66=
ENST00000231790.6:c.198_199delinsCG ENSP00000231790.2:p.Thr66=
ENST00000429117.5:c.-92_-91delinsCG ENSP00000407019.1:n.-92_-91delinsCG
ENST00000432299.5:c.*278_*279delinsCG ENSP00000416783.1:n.*278_*279delinsCG
ENST00000435176.5:c.-92_-91delinsCG ENSP00000402564.1:n.-92_-91delinsCG
ENST00000441265.5:c.-434_-433delinsCG ENSP00000398392.1:n.-434_-433delinsCG
ENST00000442249.5:c.116+3037_116+3038delinsCG ENSP00000387511.1:n.116+3037_116+3038delinsCG
ENST00000454028.5:c.*76_*77delinsCG ENSP00000392649.1:n.*76_*77delinsCG
ENST00000455445.6:c.-526_-525delinsCG ENSP00000398272.2:n.-526_-525delinsCG
ENST00000456676.6:c.173_174delinsCG
ENST00000457004.5:c.*76_*77delinsCG ENSP00000407773.1:n.*76_*77delinsCG
ENST00000458205.6:c.-671_-670delinsCG ENSP00000402667.2:n.-671_-670delinsCG
ENST00000466900.5:n.125_126delinsCG
ENST00000476172.5:n.320_321delinsCG
ENST00000485889.1:n.202_203delinsCG
ENST00000492474.5:n.221_222delinsCG
ENST00000536378.5:c.-517+3037_-517+3038delinsCG ENSP00000444286.2:n.-517+3037_-517+3038delinsCG
ENST00000539477.5:c.-434_-433delinsCG ENSP00000443665.1:n.-434_-433delinsCG
NM_000249.3:c.198_199delinsCG , LRG_216t1:c.198_199delinsCG NP_000240.1:p.Thr66=
NM_001167617.1:c.-92_-91delinsCG NP_001161089.1:n.-92_-91delinsCG
NM_001167618.1:c.-526_-525delinsCG NP_001161090.1:n.-526_-525delinsCG
NM_001167619.1:c.-434_-433delinsCG NP_001161091.1:n.-434_-433delinsCG
NM_001258271.1:c.198_199delinsCG NP_001245200.1:p.Thr66=
NM_001258273.1:c.-517+3037_-517+3038delinsCG NP_001245202.1:n.-517+3037_-517+3038delinsCG
NM_001258274.1:c.-671_-670delinsCG NP_001245203.1:n.-671_-670delinsCG
XM_005265161.1:c.198_199delinsCG XP_005265218.1:p.Thr66=
XM_005265163.1:c.-526_-525delinsCG XP_005265220.1:n.-526_-525delinsCG
XM_005265164.1:c.-526_-525delinsCG XP_005265221.1:n.-526_-525delinsCG
XM_005265166.1:c.-732_-731delinsCG XP_005265223.1:n.-732_-731delinsCG
XM_011533727.1:c.-629_-628delinsCG XP_011532029.1:n.-629_-628delinsCG
NM_001167617.2:c.-92_-91delinsCG NP_001161089.1:n.-92_-91delinsCG
NM_001167618.2:c.-526_-525delinsCG NP_001161090.1:n.-526_-525delinsCG
NM_001167619.2:c.-434_-433delinsCG NP_001161091.1:n.-434_-433delinsCG
NM_001258274.2:c.-671_-670delinsCG NP_001245203.1:n.-671_-670delinsCG
NM_001354615.1:c.-429_-428delinsCG NP_001341544.1:n.-429_-428delinsCG
NM_001354616.1:c.-434_-433delinsCG NP_001341545.1:n.-434_-433delinsCG
NM_001354617.1:c.-526_-525delinsCG NP_001341546.1:n.-526_-525delinsCG
NM_001354618.1:c.-526_-525delinsCG NP_001341547.1:n.-526_-525delinsCG
NM_001354619.1:c.-526_-525delinsCG NP_001341548.1:n.-526_-525delinsCG
NM_001354620.1:c.-92_-91delinsCG NP_001341549.1:n.-92_-91delinsCG
NM_001354621.1:c.-619_-618delinsCG NP_001341550.1:n.-619_-618delinsCG
NM_001354622.1:c.-732_-731delinsCG NP_001341551.1:n.-732_-731delinsCG
NM_001354623.1:c.-723+2810_-723+2811delinsCG NP_001341552.1:n.-723+2810_-723+2811delinsCG
NM_001354624.1:c.-629_-628delinsCG NP_001341553.1:n.-629_-628delinsCG
NM_001354625.1:c.-532_-531delinsCG NP_001341554.1:n.-532_-531delinsCG
NM_001354626.1:c.-629_-628delinsCG NP_001341555.1:n.-629_-628delinsCG
NM_001354627.1:c.-629_-628delinsCG NP_001341556.1:n.-629_-628delinsCG
NM_001354628.1:c.198_199delinsCG NP_001341557.1:p.Thr66=
NM_001354629.1:c.198_199delinsCG NP_001341558.1:p.Thr66=
NM_001354630.1:c.198_199delinsCG NP_001341559.1:p.Thr66=
XM_005265161.2:c.198_199delinsCG XP_005265218.1:p.Thr66=
XM_017006450.2:c.-619_-618delinsCG XP_016861939.1:n.-619_-618delinsCG
NM_000249.4:c.198_199delinsCG MANE Select NP_000240.1:p.Thr66=
NM_001167617.3:c.-92_-91delinsCG NP_001161089.1:n.-92_-91delinsCG
NM_001167618.3:c.-526_-525delinsCG NP_001161090.1:n.-526_-525delinsCG
NM_001167619.3:c.-434_-433delinsCG NP_001161091.1:n.-434_-433delinsCG
NM_001258271.2:c.198_199delinsCG NP_001245200.1:p.Thr66=
NM_001258273.2:c.-517+3037_-517+3038delinsCG NP_001245202.1:n.-517+3037_-517+3038delinsCG
NM_001258274.3:c.-671_-670delinsCG NP_001245203.1:n.-671_-670delinsCG
NM_001354615.2:c.-429_-428delinsCG NP_001341544.1:n.-429_-428delinsCG
NM_001354616.2:c.-434_-433delinsCG NP_001341545.1:n.-434_-433delinsCG
NM_001354617.2:c.-526_-525delinsCG NP_001341546.1:n.-526_-525delinsCG
NM_001354618.2:c.-526_-525delinsCG NP_001341547.1:n.-526_-525delinsCG
NM_001354619.2:c.-526_-525delinsCG NP_001341548.1:n.-526_-525delinsCG
NM_001354620.2:c.-92_-91delinsCG NP_001341549.1:n.-92_-91delinsCG
NM_001354621.2:c.-619_-618delinsCG NP_001341550.1:n.-619_-618delinsCG
NM_001354622.2:c.-732_-731delinsCG NP_001341551.1:n.-732_-731delinsCG
NM_001354623.2:c.-723+2810_-723+2811delinsCG NP_001341552.1:n.-723+2810_-723+2811delinsCG
NM_001354624.2:c.-629_-628delinsCG NP_001341553.1:n.-629_-628delinsCG
NM_001354625.2:c.-532_-531delinsCG NP_001341554.1:n.-532_-531delinsCG
NM_001354626.2:c.-629_-628delinsCG NP_001341555.1:n.-629_-628delinsCG
NM_001354627.2:c.-629_-628delinsCG NP_001341556.1:n.-629_-628delinsCG
NM_001354628.2:c.198_199delinsCG NP_001341557.1:p.Thr66=
NM_001354629.2:c.198_199delinsCG NP_001341558.1:p.Thr66=
NM_001354630.2:c.198_199delinsCG NP_001341559.1:p.Thr66=
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