Canonical Allele Identifier: CA1357864838
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993597_36993598delinsAC , CM000665.2:g.36993597_36993598delinsAC GRCh38
NC_000003.11:g.37035088_37035089delinsAC , CM000665.1:g.37035088_37035089delinsAC GRCh37
NC_000003.10:g.37010092_37010093delinsAC NCBI36
NG_007109.2:g.5248_5249delinsAC , LRG_216:g.5248_5249delinsAC
NG_008418.1:g.4707_4708delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.50_51delinsAC ENSP00000416476.2:p.Asn17=
ENST00000450420.6:c.50_51delinsAC ENSP00000393006.2:p.Asn17=
ENST00000456676.7:c.50_51delinsAC ENSP00000416687.3:p.Asn17=
ENST00000458009.6:c.50_51delinsAC ENSP00000411066.2:p.Asn17=
ENST00000616768.6:c.50_51delinsAC ENSP00000480669.3:p.Asn17=
ENST00000673673.2:c.50_51delinsAC ENSP00000500979.2:p.Asn17=
ENST00000231790.8:c.50_51delinsAC MANE Select ENSP00000231790.3:p.Asn17=
ENST00000432299.6:c.50_51delinsAC ENSP00000416783.1:p.Asn17=
ENST00000442249.6:n.65_66delinsAC
ENST00000673673.1:c.3_4delinsAC
ENST00000673713.1:n.81_82delinsAC
ENST00000673715.1:c.50_51delinsAC ENSP00000501301.1:p.Asn17=
ENST00000673897.1:c.50_51delinsAC ENSP00000501109.1:p.Asn17=
ENST00000673899.1:c.50_51delinsAC ENSP00000501030.1:p.Asn17=
ENST00000673947.1:c.50_51delinsAC ENSP00000501304.1:p.Asn17=
ENST00000673972.1:c.50_51delinsAC ENSP00000501281.1:p.Asn17=
ENST00000674111.1:c.50_51delinsAC ENSP00000501162.1:p.Asn17=
ENST00000231790.6:c.50_51delinsAC ENSP00000231790.2:p.Asn17=
ENST00000432299.5:c.50_51delinsAC ENSP00000416783.1:p.Asn17=
ENST00000442249.5:c.50_51delinsAC ENSP00000387511.1:p.Asn17=
ENST00000454028.5:c.50_51delinsAC ENSP00000392649.1:p.Asn17=
ENST00000456676.6:c.25_26delinsAC
ENST00000457004.5:c.50_51delinsAC ENSP00000407773.1:p.Asn17=
ENST00000536378.5:c.-583_-582delinsAC ENSP00000444286.2:n.-583_-582delinsAC
NM_000249.3:c.50_51delinsAC , LRG_216t1:c.50_51delinsAC NP_000240.1:p.Asn17=
NM_001258271.1:c.50_51delinsAC NP_001245200.1:p.Asn17=
NM_001258273.1:c.-583_-582delinsAC NP_001245202.1:n.-583_-582delinsAC
XM_005265161.1:c.50_51delinsAC XP_005265218.1:p.Asn17=
XM_005265164.1:c.-669_-668delinsAC XP_005265221.1:n.-669_-668delinsAC
NM_001167617.2:c.-467_-466delinsAC NP_001161089.1:n.-467_-466delinsAC
NM_001167618.2:c.-896_-895delinsAC NP_001161090.1:n.-896_-895delinsAC
NM_001167619.2:c.-809_-808delinsAC NP_001161091.1:n.-809_-808delinsAC
NM_001258274.2:c.-1046_-1045delinsAC NP_001245203.1:n.-1046_-1045delinsAC
NM_001354615.1:c.-577_-576delinsAC NP_001341544.1:n.-577_-576delinsAC
NM_001354616.1:c.-577_-576delinsAC NP_001341545.1:n.-577_-576delinsAC
NM_001354617.1:c.-669_-668delinsAC NP_001341546.1:n.-669_-668delinsAC
NM_001354618.1:c.-901_-900delinsAC NP_001341547.1:n.-901_-900delinsAC
NM_001354619.1:c.-1025_-1024delinsAC NP_001341548.1:n.-1025_-1024delinsAC
NM_001354620.1:c.-235_-234delinsAC NP_001341549.1:n.-235_-234delinsAC
NM_001354621.1:c.-994_-993delinsAC NP_001341550.1:n.-994_-993delinsAC
NM_001354622.1:c.-1107_-1106delinsAC NP_001341551.1:n.-1107_-1106delinsAC
NM_001354623.1:c.-1016_-1015delinsAC NP_001341552.1:n.-1016_-1015delinsAC
NM_001354624.1:c.-777_-776delinsAC NP_001341553.1:n.-777_-776delinsAC
NM_001354625.1:c.-675_-674delinsAC NP_001341554.1:n.-675_-674delinsAC
NM_001354626.1:c.-772_-771delinsAC NP_001341555.1:n.-772_-771delinsAC
NM_001354627.1:c.-1004_-1003delinsAC NP_001341556.1:n.-1004_-1003delinsAC
NM_001354628.1:c.50_51delinsAC NP_001341557.1:p.Asn17=
NM_001354629.1:c.50_51delinsAC NP_001341558.1:p.Asn17=
NM_001354630.1:c.50_51delinsAC NP_001341559.1:p.Asn17=
XM_005265161.2:c.50_51delinsAC XP_005265218.1:p.Asn17=
XM_017006450.2:c.-762_-761delinsAC XP_016861939.1:n.-762_-761delinsAC
NM_000249.4:c.50_51delinsAC MANE Select NP_000240.1:p.Asn17=
NM_001167617.3:c.-467_-466delinsAC NP_001161089.1:n.-467_-466delinsAC
NM_001167618.3:c.-896_-895delinsAC NP_001161090.1:n.-896_-895delinsAC
NM_001167619.3:c.-809_-808delinsAC NP_001161091.1:n.-809_-808delinsAC
NM_001258271.2:c.50_51delinsAC NP_001245200.1:p.Asn17=
NM_001258273.2:c.-583_-582delinsAC NP_001245202.1:n.-583_-582delinsAC
NM_001258274.3:c.-1046_-1045delinsAC NP_001245203.1:n.-1046_-1045delinsAC
NM_001354615.2:c.-577_-576delinsAC NP_001341544.1:n.-577_-576delinsAC
NM_001354616.2:c.-577_-576delinsAC NP_001341545.1:n.-577_-576delinsAC
NM_001354617.2:c.-669_-668delinsAC NP_001341546.1:n.-669_-668delinsAC
NM_001354618.2:c.-901_-900delinsAC NP_001341547.1:n.-901_-900delinsAC
NM_001354619.2:c.-1025_-1024delinsAC NP_001341548.1:n.-1025_-1024delinsAC
NM_001354620.2:c.-235_-234delinsAC NP_001341549.1:n.-235_-234delinsAC
NM_001354621.2:c.-994_-993delinsAC NP_001341550.1:n.-994_-993delinsAC
NM_001354622.2:c.-1107_-1106delinsAC NP_001341551.1:n.-1107_-1106delinsAC
NM_001354623.2:c.-1016_-1015delinsAC NP_001341552.1:n.-1016_-1015delinsAC
NM_001354624.2:c.-777_-776delinsAC NP_001341553.1:n.-777_-776delinsAC
NM_001354625.2:c.-675_-674delinsAC NP_001341554.1:n.-675_-674delinsAC
NM_001354626.2:c.-772_-771delinsAC NP_001341555.1:n.-772_-771delinsAC
NM_001354627.2:c.-1004_-1003delinsAC NP_001341556.1:n.-1004_-1003delinsAC
NM_001354628.2:c.50_51delinsAC NP_001341557.1:p.Asn17=
NM_001354629.2:c.50_51delinsAC NP_001341558.1:p.Asn17=
NM_001354630.2:c.50_51delinsAC NP_001341559.1:p.Asn17=