Canonical Allele Identifier: CA645534162
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37028832_37028833delinsTT , CM000665.2:g.37028832_37028833delinsTT GRCh38
NC_000003.11:g.37070323_37070324delinsTT , CM000665.1:g.37070323_37070324delinsTT GRCh37
NC_000003.10:g.37045327_37045328delinsTT NCBI36
NG_007109.2:g.40483_40484delinsTT , LRG_216:g.40483_40484delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1458_1459delinsTT ENSP00000416476.2:p.Ser487Ter
ENST00000429117.6:c.1164_1165delinsTT ENSP00000407019.2:p.Ser389Ter
ENST00000450420.6:c.1458_1459delinsTT ENSP00000393006.2:p.Ser487Ter
ENST00000456676.7:c.1458_1459delinsTT ENSP00000416687.3:p.Ser487Ter
ENST00000458009.6:c.*359_*360delinsTT ENSP00000411066.2:n.*359_*360delinsTT
ENST00000492474.6:c.735_736delinsTT ENSP00000518393.1:p.Ser246Ter
ENST00000616768.6:c.1458_1459delinsTT ENSP00000480669.3:p.Ser487Ter
ENST00000673673.2:c.1458_1459delinsTT ENSP00000500979.2:p.Ser487Ter
ENST00000231790.8:c.1458_1459delinsTT MANE Select ENSP00000231790.3:p.Ser487Ter
ENST00000413212.2:c.*376_*377delinsTT ENSP00000400844.2:n.*376_*377delinsTT
ENST00000432299.6:c.*1290_*1291delinsTT ENSP00000416783.1:n.*1290_*1291delinsTT
ENST00000441265.6:c.735_736delinsTT ENSP00000398392.2:p.Ser246Ter
ENST00000447829.6:c.*569_*570delinsTT ENSP00000399329.2:n.*569_*570delinsTT
ENST00000539477.6:c.735_736delinsTT ENSP00000443665.1:p.Ser246Ter
ENST00000616768.5:c.495_496delinsTT ENSP00000480669.2:p.Ser166Ter
ENST00000673673.1:c.1411_1412delinsTT
ENST00000673715.1:c.1458_1459delinsTT ENSP00000501301.1:p.Ser487Ter
ENST00000673889.1:n.840_841delinsTT
ENST00000673897.1:c.*1250_*1251delinsTT ENSP00000501109.1:n.*1250_*1251delinsTT
ENST00000673899.1:c.726_727delinsTT ENSP00000501030.1:p.Ser243Ter
ENST00000673947.1:c.*1598_*1599delinsTT ENSP00000501304.1:n.*1598_*1599delinsTT
ENST00000673972.1:c.*1336_*1337delinsTT ENSP00000501281.1:n.*1336_*1337delinsTT
ENST00000673990.1:n.1349_1350delinsTT
ENST00000674019.1:c.735_736delinsTT ENSP00000501081.1:p.Ser246Ter
ENST00000674107.1:n.1306_1307delinsTT
ENST00000674111.1:c.1458_1459delinsTT ENSP00000501162.1:p.Ser487Ter
ENST00000674125.1:n.169_170delinsTT
ENST00000231790.6:c.1458_1459delinsTT ENSP00000231790.2:p.Ser487Ter
ENST00000413212.1:c.533_534delinsTT
ENST00000413740.1:c.81_82delinsTT ENSP00000416476.1:p.Ser28Ter
ENST00000435176.5:c.1164_1165delinsTT ENSP00000402564.1:p.Ser389Ter
ENST00000450420.5:c.81_82delinsTT ENSP00000393006.1:p.Ser28Ter
ENST00000455445.6:c.735_736delinsTT ENSP00000398272.2:p.Ser246Ter
ENST00000456676.6:c.1433_1434delinsTT
ENST00000458009.5:c.645_646delinsTT
ENST00000458205.6:c.735_736delinsTT ENSP00000402667.2:p.Ser246Ter
ENST00000536378.5:c.735_736delinsTT ENSP00000444286.2:p.Ser246Ter
ENST00000539477.5:c.735_736delinsTT ENSP00000443665.1:p.Ser246Ter
ENST00000616768.4:c.226_227delinsTT
NM_000249.3:c.1458_1459delinsTT , LRG_216t1:c.1458_1459delinsTT NP_000240.1:p.Ser487Ter
NM_001167617.1:c.1164_1165delinsTT NP_001161089.1:p.Ser389Ter
NM_001167618.1:c.735_736delinsTT NP_001161090.1:p.Ser246Ter
NM_001167619.1:c.735_736delinsTT NP_001161091.1:p.Ser246Ter
NM_001258271.1:c.1458_1459delinsTT NP_001245200.1:p.Ser487Ter
NM_001258273.1:c.735_736delinsTT NP_001245202.1:p.Ser246Ter
NM_001258274.1:c.735_736delinsTT NP_001245203.1:p.Ser246Ter
XM_005265161.1:c.1251_1252delinsTT XP_005265218.1:p.Ser418Ter
XM_005265163.1:c.735_736delinsTT XP_005265220.1:p.Ser246Ter
XM_005265164.1:c.735_736delinsTT XP_005265221.1:p.Ser246Ter
XM_005265166.1:c.435_436delinsTT XP_005265223.1:p.Ser146Ter
XM_011533727.1:c.384_385delinsTT XP_011532029.1:p.Ser129Ter
NM_001167617.2:c.1164_1165delinsTT NP_001161089.1:p.Ser389Ter
NM_001167618.2:c.735_736delinsTT NP_001161090.1:p.Ser246Ter
NM_001167619.2:c.735_736delinsTT NP_001161091.1:p.Ser246Ter
NM_001258274.2:c.735_736delinsTT NP_001245203.1:p.Ser246Ter
NM_001354615.1:c.735_736delinsTT NP_001341544.1:p.Ser246Ter
NM_001354616.1:c.735_736delinsTT NP_001341545.1:p.Ser246Ter
NM_001354617.1:c.735_736delinsTT NP_001341546.1:p.Ser246Ter
NM_001354618.1:c.735_736delinsTT NP_001341547.1:p.Ser246Ter
NM_001354619.1:c.735_736delinsTT NP_001341548.1:p.Ser246Ter
NM_001354620.1:c.1164_1165delinsTT NP_001341549.1:p.Ser389Ter
NM_001354621.1:c.435_436delinsTT NP_001341550.1:p.Ser146Ter
NM_001354622.1:c.435_436delinsTT NP_001341551.1:p.Ser146Ter
NM_001354623.1:c.435_436delinsTT NP_001341552.1:p.Ser146Ter
NM_001354624.1:c.384_385delinsTT NP_001341553.1:p.Ser129Ter
NM_001354625.1:c.384_385delinsTT NP_001341554.1:p.Ser129Ter
NM_001354626.1:c.384_385delinsTT NP_001341555.1:p.Ser129Ter
NM_001354627.1:c.384_385delinsTT NP_001341556.1:p.Ser129Ter
NM_001354628.1:c.1458_1459delinsTT NP_001341557.1:p.Ser487Ter
NM_001354629.1:c.1359_1360delinsTT NP_001341558.1:p.Ser454Ter
NM_001354630.1:c.1458_1459delinsTT NP_001341559.1:p.Ser487Ter
XM_005265161.2:c.1251_1252delinsTT XP_005265218.1:p.Ser418Ter
XM_017006450.2:c.435_436delinsTT XP_016861939.1:p.Ser146Ter
NM_000249.4:c.1458_1459delinsTT MANE Select NP_000240.1:p.Ser487Ter
NM_001167617.3:c.1164_1165delinsTT NP_001161089.1:p.Ser389Ter
NM_001167618.3:c.735_736delinsTT NP_001161090.1:p.Ser246Ter
NM_001167619.3:c.735_736delinsTT NP_001161091.1:p.Ser246Ter
NM_001258271.2:c.1458_1459delinsTT NP_001245200.1:p.Ser487Ter
NM_001258273.2:c.735_736delinsTT NP_001245202.1:p.Ser246Ter
NM_001258274.3:c.735_736delinsTT NP_001245203.1:p.Ser246Ter
NM_001354615.2:c.735_736delinsTT NP_001341544.1:p.Ser246Ter
NM_001354616.2:c.735_736delinsTT NP_001341545.1:p.Ser246Ter
NM_001354617.2:c.735_736delinsTT NP_001341546.1:p.Ser246Ter
NM_001354618.2:c.735_736delinsTT NP_001341547.1:p.Ser246Ter
NM_001354619.2:c.735_736delinsTT NP_001341548.1:p.Ser246Ter
NM_001354620.2:c.1164_1165delinsTT NP_001341549.1:p.Ser389Ter
NM_001354621.2:c.435_436delinsTT NP_001341550.1:p.Ser146Ter
NM_001354622.2:c.435_436delinsTT NP_001341551.1:p.Ser146Ter
NM_001354623.2:c.435_436delinsTT NP_001341552.1:p.Ser146Ter
NM_001354624.2:c.384_385delinsTT NP_001341553.1:p.Ser129Ter
NM_001354625.2:c.384_385delinsTT NP_001341554.1:p.Ser129Ter
NM_001354626.2:c.384_385delinsTT NP_001341555.1:p.Ser129Ter
NM_001354627.2:c.384_385delinsTT NP_001341556.1:p.Ser129Ter
NM_001354628.2:c.1458_1459delinsTT NP_001341557.1:p.Ser487Ter
NM_001354629.2:c.1359_1360delinsTT NP_001341558.1:p.Ser454Ter
NM_001354630.2:c.1458_1459delinsTT NP_001341559.1:p.Ser487Ter