Canonical Allele Identifier: CA1357891720
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050491_37050498delinsAGTGCCTG , CM000665.2:g.37050491_37050498delinsAGTGCCTG GRCh38
NC_000003.11:g.37091982_37091989delinsAGTGCCTG , CM000665.1:g.37091982_37091989delinsAGTGCCTG GRCh37
NC_000003.10:g.37066986_37066993delinsAGTGCCTG NCBI36
NG_007109.2:g.62142_62149delinsAGTGCCTG , LRG_216:g.62142_62149delinsAGTGCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1673_1680delinsAGTGCCTG ENSP00000416476.2:p.Lys558=
ENST00000429117.6:c.1815_1822delinsAGTGCCTG ENSP00000407019.2:p.Glu605=
ENST00000450420.6:c.*1_*8delinsAGTGCCTG ENSP00000393006.2:n.*1_*8delinsAGTGCCTG
ENST00000456676.7:c.1902_1909delinsAGTGCCTG ENSP00000416687.3:p.Glu634=
ENST00000492474.6:c.1386_1393delinsAGTGCCTG ENSP00000518393.1:p.Glu462=
ENST00000616768.6:c.2016_2023delinsAGTGCCTG ENSP00000480669.3:p.Glu672=
ENST00000673673.2:c.1944_1951delinsAGTGCCTG ENSP00000500979.2:p.Glu648=
ENST00000231790.8:c.2109_2116delinsAGTGCCTG MANE Select ENSP00000231790.3:p.Glu703=
ENST00000413212.2:c.*1027_*1034delinsAGTGCCTG ENSP00000400844.2:n.*1027_*1034delinsAGTGCCTG
ENST00000432299.6:c.*1941_*1948delinsAGTGCCTG ENSP00000416783.1:n.*1941_*1948delinsAGTGCCTG
ENST00000447829.6:c.*1220_*1227delinsAGTGCCTG ENSP00000399329.2:n.*1220_*1227delinsAGTGCCTG
ENST00000539477.6:c.1386_1393delinsAGTGCCTG ENSP00000443665.1:p.Glu462=
ENST00000616768.5:c.1053_1060delinsAGTGCCTG ENSP00000480669.2:p.Glu351=
ENST00000673673.1:c.1897_1904delinsAGTGCCTG
ENST00000673741.1:n.1143_1150delinsAGTGCCTG
ENST00000673889.1:n.1491_1498delinsAGTGCCTG
ENST00000673897.1:c.*1901_*1908delinsAGTGCCTG ENSP00000501109.1:n.*1901_*1908delinsAGTGCCTG
ENST00000673899.1:c.1377_1384delinsAGTGCCTG ENSP00000501030.1:p.Glu459=
ENST00000673947.1:c.*2249_*2256delinsAGTGCCTG ENSP00000501304.1:n.*2249_*2256delinsAGTGCCTG
ENST00000673972.1:c.*1987_*1994delinsAGTGCCTG ENSP00000501281.1:n.*1987_*1994delinsAGTGCCTG
ENST00000674019.1:c.1386_1393delinsAGTGCCTG ENSP00000501081.1:p.Glu462=
ENST00000674111.1:c.*338_*345delinsAGTGCCTG ENSP00000501162.1:n.*338_*345delinsAGTGCCTG
ENST00000674125.1:n.820_827delinsAGTGCCTG
ENST00000231790.6:c.2109_2116delinsAGTGCCTG ENSP00000231790.2:p.Glu703=
ENST00000413740.1:c.296_303delinsAGTGCCTG ENSP00000416476.1:p.Lys99=
ENST00000435176.5:c.1815_1822delinsAGTGCCTG ENSP00000402564.1:p.Glu605=
ENST00000450420.5:c.187_194delinsAGTGCCTG ENSP00000393006.1:n.187_194delinsAGTGCCTG
ENST00000455445.6:c.1386_1393delinsAGTGCCTG ENSP00000398272.2:p.Glu462=
ENST00000456676.6:c.1877_1884delinsAGTGCCTG
ENST00000458205.6:c.1386_1393delinsAGTGCCTG ENSP00000402667.2:p.Glu462=
ENST00000536378.5:c.1386_1393delinsAGTGCCTG ENSP00000444286.2:p.Glu462=
ENST00000539477.5:c.1386_1393delinsAGTGCCTG ENSP00000443665.1:p.Glu462=
NM_000249.3:c.2109_2116delinsAGTGCCTG , LRG_216t1:c.2109_2116delinsAGTGCCTG NP_000240.1:p.Glu703=
NM_001167617.1:c.1815_1822delinsAGTGCCTG NP_001161089.1:p.Glu605=
NM_001167618.1:c.1386_1393delinsAGTGCCTG NP_001161090.1:p.Glu462=
NM_001167619.1:c.1386_1393delinsAGTGCCTG NP_001161091.1:p.Glu462=
NM_001258271.1:c.1902_1909delinsAGTGCCTG NP_001245200.1:p.Glu634=
NM_001258273.1:c.1386_1393delinsAGTGCCTG NP_001245202.1:p.Glu462=
NM_001258274.1:c.1386_1393delinsAGTGCCTG NP_001245203.1:p.Glu462=
XM_005265161.1:c.1902_1909delinsAGTGCCTG XP_005265218.1:p.Glu634=
XM_005265163.1:c.1386_1393delinsAGTGCCTG XP_005265220.1:p.Glu462=
XM_005265164.1:c.1386_1393delinsAGTGCCTG XP_005265221.1:p.Glu462=
XM_005265166.1:c.1086_1093delinsAGTGCCTG XP_005265223.1:p.Glu362=
XM_011533727.1:c.1035_1042delinsAGTGCCTG XP_011532029.1:p.Glu345=
NM_001167617.2:c.1815_1822delinsAGTGCCTG NP_001161089.1:p.Glu605=
NM_001167618.2:c.1386_1393delinsAGTGCCTG NP_001161090.1:p.Glu462=
NM_001167619.2:c.1386_1393delinsAGTGCCTG NP_001161091.1:p.Glu462=
NM_001258274.2:c.1386_1393delinsAGTGCCTG NP_001245203.1:p.Glu462=
NM_001354615.1:c.1386_1393delinsAGTGCCTG NP_001341544.1:p.Glu462=
NM_001354616.1:c.1386_1393delinsAGTGCCTG NP_001341545.1:p.Glu462=
NM_001354617.1:c.1386_1393delinsAGTGCCTG NP_001341546.1:p.Glu462=
NM_001354618.1:c.1386_1393delinsAGTGCCTG NP_001341547.1:p.Glu462=
NM_001354619.1:c.1386_1393delinsAGTGCCTG NP_001341548.1:p.Glu462=
NM_001354620.1:c.1815_1822delinsAGTGCCTG NP_001341549.1:p.Glu605=
NM_001354621.1:c.1086_1093delinsAGTGCCTG NP_001341550.1:p.Glu362=
NM_001354622.1:c.1086_1093delinsAGTGCCTG NP_001341551.1:p.Glu362=
NM_001354623.1:c.1086_1093delinsAGTGCCTG NP_001341552.1:p.Glu362=
NM_001354624.1:c.1035_1042delinsAGTGCCTG NP_001341553.1:p.Glu345=
NM_001354625.1:c.1035_1042delinsAGTGCCTG NP_001341554.1:p.Glu345=
NM_001354626.1:c.1035_1042delinsAGTGCCTG NP_001341555.1:p.Glu345=
NM_001354627.1:c.1035_1042delinsAGTGCCTG NP_001341556.1:p.Glu345=
NM_001354628.1:c.2016_2023delinsAGTGCCTG NP_001341557.1:p.Glu672=
NM_001354629.1:c.2010_2017delinsAGTGCCTG NP_001341558.1:p.Glu670=
NM_001354630.1:c.1944_1951delinsAGTGCCTG NP_001341559.1:p.Glu648=
XM_005265161.2:c.1902_1909delinsAGTGCCTG XP_005265218.1:p.Glu634=
XM_017006450.2:c.1086_1093delinsAGTGCCTG XP_016861939.1:p.Glu362=
NM_000249.4:c.2109_2116delinsAGTGCCTG MANE Select NP_000240.1:p.Glu703=
NM_001167617.3:c.1815_1822delinsAGTGCCTG NP_001161089.1:p.Glu605=
NM_001167618.3:c.1386_1393delinsAGTGCCTG NP_001161090.1:p.Glu462=
NM_001167619.3:c.1386_1393delinsAGTGCCTG NP_001161091.1:p.Glu462=
NM_001258271.2:c.1902_1909delinsAGTGCCTG NP_001245200.1:p.Glu634=
NM_001258273.2:c.1386_1393delinsAGTGCCTG NP_001245202.1:p.Glu462=
NM_001258274.3:c.1386_1393delinsAGTGCCTG NP_001245203.1:p.Glu462=
NM_001354615.2:c.1386_1393delinsAGTGCCTG NP_001341544.1:p.Glu462=
NM_001354616.2:c.1386_1393delinsAGTGCCTG NP_001341545.1:p.Glu462=
NM_001354617.2:c.1386_1393delinsAGTGCCTG NP_001341546.1:p.Glu462=
NM_001354618.2:c.1386_1393delinsAGTGCCTG NP_001341547.1:p.Glu462=
NM_001354619.2:c.1386_1393delinsAGTGCCTG NP_001341548.1:p.Glu462=
NM_001354620.2:c.1815_1822delinsAGTGCCTG NP_001341549.1:p.Glu605=
NM_001354621.2:c.1086_1093delinsAGTGCCTG NP_001341550.1:p.Glu362=
NM_001354622.2:c.1086_1093delinsAGTGCCTG NP_001341551.1:p.Glu362=
NM_001354623.2:c.1086_1093delinsAGTGCCTG NP_001341552.1:p.Glu362=
NM_001354624.2:c.1035_1042delinsAGTGCCTG NP_001341553.1:p.Glu345=
NM_001354625.2:c.1035_1042delinsAGTGCCTG NP_001341554.1:p.Glu345=
NM_001354626.2:c.1035_1042delinsAGTGCCTG NP_001341555.1:p.Glu345=
NM_001354627.2:c.1035_1042delinsAGTGCCTG NP_001341556.1:p.Glu345=
NM_001354628.2:c.2016_2023delinsAGTGCCTG NP_001341557.1:p.Glu672=
NM_001354629.2:c.2010_2017delinsAGTGCCTG NP_001341558.1:p.Glu670=
NM_001354630.2:c.1944_1951delinsAGTGCCTG NP_001341559.1:p.Glu648=