Canonical Allele Identifier: CA658760410
Gene: MLH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996644_36996646delinsTAT , CM000665.2:g.36996644_36996646delinsTAT GRCh38
NC_000003.11:g.37038135_37038137delinsTAT , CM000665.1:g.37038135_37038137delinsTAT GRCh37
NC_000003.10:g.37013139_37013141delinsTAT NCBI36
NG_007109.2:g.8295_8297delinsTAT , LRG_216:g.8295_8297delinsTAT
NG_008418.1:g.1659_1661delinsATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.142_144delinsTAT ENSP00000416476.2:p.Gln48Tyr
ENST00000429117.6:c.-148_-146delinsTAT ENSP00000407019.2:n.-148_-146delinsTAT
ENST00000450420.6:c.142_144delinsTAT ENSP00000393006.2:p.Gln48Tyr
ENST00000456676.7:c.142_144delinsTAT ENSP00000416687.3:p.Gln48Tyr
ENST00000458009.6:c.142_144delinsTAT ENSP00000411066.2:p.Gln48Tyr
ENST00000492474.6:c.-582_-580delinsTAT ENSP00000518393.1:n.-582_-580delinsTAT
ENST00000616768.6:c.142_144delinsTAT ENSP00000480669.3:p.Gln48Tyr
ENST00000673673.2:c.142_144delinsTAT ENSP00000500979.2:p.Gln48Tyr
ENST00000231790.8:c.142_144delinsTAT MANE Select ENSP00000231790.3:p.Gln48Tyr
ENST00000413212.2:c.-582_-580delinsTAT ENSP00000400844.2:n.-582_-580delinsTAT
ENST00000432299.6:c.*222_*224delinsTAT ENSP00000416783.1:n.*222_*224delinsTAT
ENST00000441265.6:c.-582_-580delinsTAT ENSP00000398392.2:n.-582_-580delinsTAT
ENST00000442249.6:n.157_159delinsTAT
ENST00000447829.6:c.-148_-146delinsTAT ENSP00000399329.2:n.-148_-146delinsTAT
ENST00000476172.6:n.1120-1326_1120-1324delinsTAT
ENST00000539477.6:c.-490_-488delinsTAT ENSP00000443665.1:n.-490_-488delinsTAT
ENST00000673673.1:c.95_97delinsTAT
ENST00000673686.1:n.132_134delinsTAT
ENST00000673713.1:n.173_175delinsTAT
ENST00000673715.1:c.142_144delinsTAT ENSP00000501301.1:p.Gln48Tyr
ENST00000673897.1:c.116+2981_116+2983delinsTAT ENSP00000501109.1:n.116+2981_116+2983delinsTAT
ENST00000673899.1:c.142_144delinsTAT ENSP00000501030.1:p.Gln48Tyr
ENST00000673947.1:c.*282_*284delinsTAT ENSP00000501304.1:n.*282_*284delinsTAT
ENST00000673972.1:c.*20_*22delinsTAT ENSP00000501281.1:n.*20_*22delinsTAT
ENST00000673990.1:n.127_129delinsTAT
ENST00000674019.1:c.-582_-580delinsTAT ENSP00000501081.1:n.-582_-580delinsTAT
ENST00000674107.1:n.84_86delinsTAT
ENST00000674111.1:c.142_144delinsTAT ENSP00000501162.1:p.Gln48Tyr
ENST00000231790.6:c.142_144delinsTAT ENSP00000231790.2:p.Gln48Tyr
ENST00000429117.5:c.-148_-146delinsTAT ENSP00000407019.1:n.-148_-146delinsTAT
ENST00000432299.5:c.*222_*224delinsTAT ENSP00000416783.1:n.*222_*224delinsTAT
ENST00000435176.5:c.-148_-146delinsTAT ENSP00000402564.1:n.-148_-146delinsTAT
ENST00000441265.5:c.-490_-488delinsTAT ENSP00000398392.1:n.-490_-488delinsTAT
ENST00000442249.5:c.116+2981_116+2983delinsTAT ENSP00000387511.1:n.116+2981_116+2983delinsTAT
ENST00000454028.5:c.*20_*22delinsTAT ENSP00000392649.1:n.*20_*22delinsTAT
ENST00000455445.6:c.-582_-580delinsTAT ENSP00000398272.2:n.-582_-580delinsTAT
ENST00000456676.6:c.117_119delinsTAT
ENST00000457004.5:c.*20_*22delinsTAT ENSP00000407773.1:n.*20_*22delinsTAT
ENST00000458205.6:c.-727_-725delinsTAT ENSP00000402667.2:n.-727_-725delinsTAT
ENST00000466900.5:n.69_71delinsTAT
ENST00000476172.5:n.264_266delinsTAT
ENST00000485889.1:n.146_148delinsTAT
ENST00000492474.5:n.165_167delinsTAT
ENST00000536378.5:c.-517+2981_-517+2983delinsTAT ENSP00000444286.2:n.-517+2981_-517+2983delinsTAT
ENST00000539477.5:c.-490_-488delinsTAT ENSP00000443665.1:n.-490_-488delinsTAT
NM_000249.3:c.142_144delinsTAT , LRG_216t1:c.142_144delinsTAT NP_000240.1:p.Gln48Tyr
NM_001167617.1:c.-148_-146delinsTAT NP_001161089.1:n.-148_-146delinsTAT
NM_001167618.1:c.-582_-580delinsTAT NP_001161090.1:n.-582_-580delinsTAT
NM_001167619.1:c.-490_-488delinsTAT NP_001161091.1:n.-490_-488delinsTAT
NM_001258271.1:c.142_144delinsTAT NP_001245200.1:p.Gln48Tyr
NM_001258273.1:c.-517+2981_-517+2983delinsTAT NP_001245202.1:n.-517+2981_-517+2983delinsTAT
NM_001258274.1:c.-727_-725delinsTAT NP_001245203.1:n.-727_-725delinsTAT
XM_005265161.1:c.142_144delinsTAT XP_005265218.1:p.Gln48Tyr
XM_005265163.1:c.-582_-580delinsTAT XP_005265220.1:n.-582_-580delinsTAT
XM_005265164.1:c.-582_-580delinsTAT XP_005265221.1:n.-582_-580delinsTAT
XM_005265166.1:c.-788_-786delinsTAT XP_005265223.1:n.-788_-786delinsTAT
XM_011533727.1:c.-685_-683delinsTAT XP_011532029.1:n.-685_-683delinsTAT
NM_001167617.2:c.-148_-146delinsTAT NP_001161089.1:n.-148_-146delinsTAT
NM_001167618.2:c.-582_-580delinsTAT NP_001161090.1:n.-582_-580delinsTAT
NM_001167619.2:c.-490_-488delinsTAT NP_001161091.1:n.-490_-488delinsTAT
NM_001258274.2:c.-727_-725delinsTAT NP_001245203.1:n.-727_-725delinsTAT
NM_001354615.1:c.-485_-483delinsTAT NP_001341544.1:n.-485_-483delinsTAT
NM_001354616.1:c.-490_-488delinsTAT NP_001341545.1:n.-490_-488delinsTAT
NM_001354617.1:c.-582_-580delinsTAT NP_001341546.1:n.-582_-580delinsTAT
NM_001354618.1:c.-582_-580delinsTAT NP_001341547.1:n.-582_-580delinsTAT
NM_001354619.1:c.-582_-580delinsTAT NP_001341548.1:n.-582_-580delinsTAT
NM_001354620.1:c.-148_-146delinsTAT NP_001341549.1:n.-148_-146delinsTAT
NM_001354621.1:c.-675_-673delinsTAT NP_001341550.1:n.-675_-673delinsTAT
NM_001354622.1:c.-788_-786delinsTAT NP_001341551.1:n.-788_-786delinsTAT
NM_001354623.1:c.-723+2754_-723+2756delinsTAT NP_001341552.1:n.-723+2754_-723+2756delinsTAT
NM_001354624.1:c.-685_-683delinsTAT NP_001341553.1:n.-685_-683delinsTAT
NM_001354625.1:c.-588_-586delinsTAT NP_001341554.1:n.-588_-586delinsTAT
NM_001354626.1:c.-685_-683delinsTAT NP_001341555.1:n.-685_-683delinsTAT
NM_001354627.1:c.-685_-683delinsTAT NP_001341556.1:n.-685_-683delinsTAT
NM_001354628.1:c.142_144delinsTAT NP_001341557.1:p.Gln48Tyr
NM_001354629.1:c.142_144delinsTAT NP_001341558.1:p.Gln48Tyr
NM_001354630.1:c.142_144delinsTAT NP_001341559.1:p.Gln48Tyr
XM_005265161.2:c.142_144delinsTAT XP_005265218.1:p.Gln48Tyr
XM_017006450.2:c.-675_-673delinsTAT XP_016861939.1:n.-675_-673delinsTAT
NM_000249.4:c.142_144delinsTAT MANE Select NP_000240.1:p.Gln48Tyr
NM_001167617.3:c.-148_-146delinsTAT NP_001161089.1:n.-148_-146delinsTAT
NM_001167618.3:c.-582_-580delinsTAT NP_001161090.1:n.-582_-580delinsTAT
NM_001167619.3:c.-490_-488delinsTAT NP_001161091.1:n.-490_-488delinsTAT
NM_001258271.2:c.142_144delinsTAT NP_001245200.1:p.Gln48Tyr
NM_001258273.2:c.-517+2981_-517+2983delinsTAT NP_001245202.1:n.-517+2981_-517+2983delinsTAT
NM_001258274.3:c.-727_-725delinsTAT NP_001245203.1:n.-727_-725delinsTAT
NM_001354615.2:c.-485_-483delinsTAT NP_001341544.1:n.-485_-483delinsTAT
NM_001354616.2:c.-490_-488delinsTAT NP_001341545.1:n.-490_-488delinsTAT
NM_001354617.2:c.-582_-580delinsTAT NP_001341546.1:n.-582_-580delinsTAT
NM_001354618.2:c.-582_-580delinsTAT NP_001341547.1:n.-582_-580delinsTAT
NM_001354619.2:c.-582_-580delinsTAT NP_001341548.1:n.-582_-580delinsTAT
NM_001354620.2:c.-148_-146delinsTAT NP_001341549.1:n.-148_-146delinsTAT
NM_001354621.2:c.-675_-673delinsTAT NP_001341550.1:n.-675_-673delinsTAT
NM_001354622.2:c.-788_-786delinsTAT NP_001341551.1:n.-788_-786delinsTAT
NM_001354623.2:c.-723+2754_-723+2756delinsTAT NP_001341552.1:n.-723+2754_-723+2756delinsTAT
NM_001354624.2:c.-685_-683delinsTAT NP_001341553.1:n.-685_-683delinsTAT
NM_001354625.2:c.-588_-586delinsTAT NP_001341554.1:n.-588_-586delinsTAT
NM_001354626.2:c.-685_-683delinsTAT NP_001341555.1:n.-685_-683delinsTAT
NM_001354627.2:c.-685_-683delinsTAT NP_001341556.1:n.-685_-683delinsTAT
NM_001354628.2:c.142_144delinsTAT NP_001341557.1:p.Gln48Tyr
NM_001354629.2:c.142_144delinsTAT NP_001341558.1:p.Gln48Tyr
NM_001354630.2:c.142_144delinsTAT NP_001341559.1:p.Gln48Tyr