Canonical Allele Identifier: CA1357867165
Gene: MLH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996696_36996697delinsGC , CM000665.2:g.36996696_36996697delinsGC GRCh38
NC_000003.11:g.37038187_37038188delinsGC , CM000665.1:g.37038187_37038188delinsGC GRCh37
NC_000003.10:g.37013191_37013192delinsGC NCBI36
NG_007109.2:g.8347_8348delinsGC , LRG_216:g.8347_8348delinsGC
NG_008418.1:g.1608_1609delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.194_195delinsGC ENSP00000416476.2:p.Gly65=
ENST00000429117.6:c.-96_-95delinsGC ENSP00000407019.2:n.-96_-95delinsGC
ENST00000450420.6:c.194_195delinsGC ENSP00000393006.2:p.Gly65=
ENST00000456676.7:c.194_195delinsGC ENSP00000416687.3:p.Gly65=
ENST00000458009.6:c.194_195delinsGC ENSP00000411066.2:p.Gly65=
ENST00000492474.6:c.-530_-529delinsGC ENSP00000518393.1:n.-530_-529delinsGC
ENST00000616768.6:c.194_195delinsGC ENSP00000480669.3:p.Gly65=
ENST00000673673.2:c.194_195delinsGC ENSP00000500979.2:p.Gly65=
ENST00000231790.8:c.194_195delinsGC MANE Select ENSP00000231790.3:p.Gly65=
ENST00000413212.2:c.-530_-529delinsGC ENSP00000400844.2:n.-530_-529delinsGC
ENST00000432299.6:c.*274_*275delinsGC ENSP00000416783.1:n.*274_*275delinsGC
ENST00000441265.6:c.-530_-529delinsGC ENSP00000398392.2:n.-530_-529delinsGC
ENST00000442249.6:n.209_210delinsGC
ENST00000447829.6:c.-96_-95delinsGC ENSP00000399329.2:n.-96_-95delinsGC
ENST00000476172.6:n.1120-1274_1120-1273delinsGC
ENST00000539477.6:c.-438_-437delinsGC ENSP00000443665.1:n.-438_-437delinsGC
ENST00000673673.1:c.147_148delinsGC
ENST00000673686.1:n.184_185delinsGC
ENST00000673713.1:n.225_226delinsGC
ENST00000673715.1:c.194_195delinsGC ENSP00000501301.1:p.Gly65=
ENST00000673897.1:c.116+3033_116+3034delinsGC ENSP00000501109.1:n.116+3033_116+3034delinsGC
ENST00000673899.1:c.194_195delinsGC ENSP00000501030.1:p.Gly65=
ENST00000673947.1:c.*334_*335delinsGC ENSP00000501304.1:n.*334_*335delinsGC
ENST00000673972.1:c.*72_*73delinsGC ENSP00000501281.1:n.*72_*73delinsGC
ENST00000673990.1:n.179_180delinsGC
ENST00000674019.1:c.-530_-529delinsGC ENSP00000501081.1:n.-530_-529delinsGC
ENST00000674107.1:n.136_137delinsGC
ENST00000674111.1:c.194_195delinsGC ENSP00000501162.1:p.Gly65=
ENST00000231790.6:c.194_195delinsGC ENSP00000231790.2:p.Gly65=
ENST00000429117.5:c.-96_-95delinsGC ENSP00000407019.1:n.-96_-95delinsGC
ENST00000432299.5:c.*274_*275delinsGC ENSP00000416783.1:n.*274_*275delinsGC
ENST00000435176.5:c.-96_-95delinsGC ENSP00000402564.1:n.-96_-95delinsGC
ENST00000441265.5:c.-438_-437delinsGC ENSP00000398392.1:n.-438_-437delinsGC
ENST00000442249.5:c.116+3033_116+3034delinsGC ENSP00000387511.1:n.116+3033_116+3034delinsGC
ENST00000454028.5:c.*72_*73delinsGC ENSP00000392649.1:n.*72_*73delinsGC
ENST00000455445.6:c.-530_-529delinsGC ENSP00000398272.2:n.-530_-529delinsGC
ENST00000456676.6:c.169_170delinsGC
ENST00000457004.5:c.*72_*73delinsGC ENSP00000407773.1:n.*72_*73delinsGC
ENST00000458205.6:c.-675_-674delinsGC ENSP00000402667.2:n.-675_-674delinsGC
ENST00000466900.5:n.121_122delinsGC
ENST00000476172.5:n.316_317delinsGC
ENST00000485889.1:n.198_199delinsGC
ENST00000492474.5:n.217_218delinsGC
ENST00000536378.5:c.-517+3033_-517+3034delinsGC ENSP00000444286.2:n.-517+3033_-517+3034delinsGC
ENST00000539477.5:c.-438_-437delinsGC ENSP00000443665.1:n.-438_-437delinsGC
NM_000249.3:c.194_195delinsGC , LRG_216t1:c.194_195delinsGC NP_000240.1:p.Gly65=
NM_001167617.1:c.-96_-95delinsGC NP_001161089.1:n.-96_-95delinsGC
NM_001167618.1:c.-530_-529delinsGC NP_001161090.1:n.-530_-529delinsGC
NM_001167619.1:c.-438_-437delinsGC NP_001161091.1:n.-438_-437delinsGC
NM_001258271.1:c.194_195delinsGC NP_001245200.1:p.Gly65=
NM_001258273.1:c.-517+3033_-517+3034delinsGC NP_001245202.1:n.-517+3033_-517+3034delinsGC
NM_001258274.1:c.-675_-674delinsGC NP_001245203.1:n.-675_-674delinsGC
XM_005265161.1:c.194_195delinsGC XP_005265218.1:p.Gly65=
XM_005265163.1:c.-530_-529delinsGC XP_005265220.1:n.-530_-529delinsGC
XM_005265164.1:c.-530_-529delinsGC XP_005265221.1:n.-530_-529delinsGC
XM_005265166.1:c.-736_-735delinsGC XP_005265223.1:n.-736_-735delinsGC
XM_011533727.1:c.-633_-632delinsGC XP_011532029.1:n.-633_-632delinsGC
NM_001167617.2:c.-96_-95delinsGC NP_001161089.1:n.-96_-95delinsGC
NM_001167618.2:c.-530_-529delinsGC NP_001161090.1:n.-530_-529delinsGC
NM_001167619.2:c.-438_-437delinsGC NP_001161091.1:n.-438_-437delinsGC
NM_001258274.2:c.-675_-674delinsGC NP_001245203.1:n.-675_-674delinsGC
NM_001354615.1:c.-433_-432delinsGC NP_001341544.1:n.-433_-432delinsGC
NM_001354616.1:c.-438_-437delinsGC NP_001341545.1:n.-438_-437delinsGC
NM_001354617.1:c.-530_-529delinsGC NP_001341546.1:n.-530_-529delinsGC
NM_001354618.1:c.-530_-529delinsGC NP_001341547.1:n.-530_-529delinsGC
NM_001354619.1:c.-530_-529delinsGC NP_001341548.1:n.-530_-529delinsGC
NM_001354620.1:c.-96_-95delinsGC NP_001341549.1:n.-96_-95delinsGC
NM_001354621.1:c.-623_-622delinsGC NP_001341550.1:n.-623_-622delinsGC
NM_001354622.1:c.-736_-735delinsGC NP_001341551.1:n.-736_-735delinsGC
NM_001354623.1:c.-723+2806_-723+2807delinsGC NP_001341552.1:n.-723+2806_-723+2807delinsGC
NM_001354624.1:c.-633_-632delinsGC NP_001341553.1:n.-633_-632delinsGC
NM_001354625.1:c.-536_-535delinsGC NP_001341554.1:n.-536_-535delinsGC
NM_001354626.1:c.-633_-632delinsGC NP_001341555.1:n.-633_-632delinsGC
NM_001354627.1:c.-633_-632delinsGC NP_001341556.1:n.-633_-632delinsGC
NM_001354628.1:c.194_195delinsGC NP_001341557.1:p.Gly65=
NM_001354629.1:c.194_195delinsGC NP_001341558.1:p.Gly65=
NM_001354630.1:c.194_195delinsGC NP_001341559.1:p.Gly65=
XM_005265161.2:c.194_195delinsGC XP_005265218.1:p.Gly65=
XM_017006450.2:c.-623_-622delinsGC XP_016861939.1:n.-623_-622delinsGC
NM_000249.4:c.194_195delinsGC MANE Select NP_000240.1:p.Gly65=
NM_001167617.3:c.-96_-95delinsGC NP_001161089.1:n.-96_-95delinsGC
NM_001167618.3:c.-530_-529delinsGC NP_001161090.1:n.-530_-529delinsGC
NM_001167619.3:c.-438_-437delinsGC NP_001161091.1:n.-438_-437delinsGC
NM_001258271.2:c.194_195delinsGC NP_001245200.1:p.Gly65=
NM_001258273.2:c.-517+3033_-517+3034delinsGC NP_001245202.1:n.-517+3033_-517+3034delinsGC
NM_001258274.3:c.-675_-674delinsGC NP_001245203.1:n.-675_-674delinsGC
NM_001354615.2:c.-433_-432delinsGC NP_001341544.1:n.-433_-432delinsGC
NM_001354616.2:c.-438_-437delinsGC NP_001341545.1:n.-438_-437delinsGC
NM_001354617.2:c.-530_-529delinsGC NP_001341546.1:n.-530_-529delinsGC
NM_001354618.2:c.-530_-529delinsGC NP_001341547.1:n.-530_-529delinsGC
NM_001354619.2:c.-530_-529delinsGC NP_001341548.1:n.-530_-529delinsGC
NM_001354620.2:c.-96_-95delinsGC NP_001341549.1:n.-96_-95delinsGC
NM_001354621.2:c.-623_-622delinsGC NP_001341550.1:n.-623_-622delinsGC
NM_001354622.2:c.-736_-735delinsGC NP_001341551.1:n.-736_-735delinsGC
NM_001354623.2:c.-723+2806_-723+2807delinsGC NP_001341552.1:n.-723+2806_-723+2807delinsGC
NM_001354624.2:c.-633_-632delinsGC NP_001341553.1:n.-633_-632delinsGC
NM_001354625.2:c.-536_-535delinsGC NP_001341554.1:n.-536_-535delinsGC
NM_001354626.2:c.-633_-632delinsGC NP_001341555.1:n.-633_-632delinsGC
NM_001354627.2:c.-633_-632delinsGC NP_001341556.1:n.-633_-632delinsGC
NM_001354628.2:c.194_195delinsGC NP_001341557.1:p.Gly65=
NM_001354629.2:c.194_195delinsGC NP_001341558.1:p.Gly65=
NM_001354630.2:c.194_195delinsGC NP_001341559.1:p.Gly65=
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