Canonical Allele Identifier: CA2551937243
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050542_37050543insATT , CM000665.2:g.37050542_37050543insATT GRCh38
NC_000003.11:g.37092033_37092034insATT , CM000665.1:g.37092033_37092034insATT GRCh37
NC_000003.10:g.37067037_37067038insATT NCBI36
NG_007109.2:g.62193_62194insATT , LRG_216:g.62193_62194insATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1724_1725insATT ENSP00000416476.2:p.Ser575_Ile576insPhe
ENST00000429117.6:c.1866_1867insATT ENSP00000407019.2:p.Val622_Tyr623insIle
ENST00000456676.7:c.1953_1954insATT ENSP00000416687.3:p.Val651_Tyr652insIle
ENST00000492474.6:c.1437_1438insATT ENSP00000518393.1:p.Val479_Tyr480insIle
ENST00000616768.6:c.2067_2068insATT ENSP00000480669.3:p.Val689_Tyr690insIle
ENST00000673673.2:c.1995_1996insATT ENSP00000500979.2:p.Val665_Tyr666insIle
ENST00000231790.8:c.2160_2161insATT MANE Select ENSP00000231790.3:p.Val720_Tyr721insIle
ENST00000413212.2:c.*1078_*1079insATT ENSP00000400844.2:n.*1078_*1079insATT
ENST00000432299.6:c.*1992_*1993insATT ENSP00000416783.1:n.*1992_*1993insATT
ENST00000447829.6:c.*1271_*1272insATT ENSP00000399329.2:n.*1271_*1272insATT
ENST00000539477.6:c.1437_1438insATT ENSP00000443665.1:p.Val479_Tyr480insIle
ENST00000616768.5:c.1104_1105insATT ENSP00000480669.2:p.Val368_Tyr369insIle
ENST00000673673.1:c.1948_1949insATT
ENST00000673741.1:n.1194_1195insATT
ENST00000673889.1:n.1542_1543insATT
ENST00000673897.1:c.*1952_*1953insATT ENSP00000501109.1:n.*1952_*1953insATT
ENST00000673899.1:c.1428_1429insATT ENSP00000501030.1:p.Val476_Tyr477insIle
ENST00000673947.1:c.*2300_*2301insATT ENSP00000501304.1:n.*2300_*2301insATT
ENST00000673972.1:c.*2038_*2039insATT ENSP00000501281.1:n.*2038_*2039insATT
ENST00000674019.1:c.1437_1438insATT ENSP00000501081.1:p.Val479_Tyr480insIle
ENST00000674111.1:c.*389_*390insATT ENSP00000501162.1:n.*389_*390insATT
ENST00000674125.1:n.871_872insATT
ENST00000231790.6:c.2160_2161insATT ENSP00000231790.2:p.Val720_Tyr721insIle
ENST00000435176.5:c.1866_1867insATT ENSP00000402564.1:p.Val622_Tyr623insIle
ENST00000455445.6:c.1437_1438insATT ENSP00000398272.2:p.Val479_Tyr480insIle
ENST00000456676.6:c.1928_1929insATT
ENST00000458205.6:c.1437_1438insATT ENSP00000402667.2:p.Val479_Tyr480insIle
ENST00000536378.5:c.1437_1438insATT ENSP00000444286.2:p.Val479_Tyr480insIle
ENST00000539477.5:c.1437_1438insATT ENSP00000443665.1:p.Val479_Tyr480insIle
NM_000249.3:c.2160_2161insATT , LRG_216t1:c.2160_2161insATT NP_000240.1:p.Val720_Tyr721insIle
NM_001167617.1:c.1866_1867insATT NP_001161089.1:p.Val622_Tyr623insIle
NM_001167618.1:c.1437_1438insATT NP_001161090.1:p.Val479_Tyr480insIle
NM_001167619.1:c.1437_1438insATT NP_001161091.1:p.Val479_Tyr480insIle
NM_001258271.1:c.1953_1954insATT NP_001245200.1:p.Val651_Tyr652insIle
NM_001258273.1:c.1437_1438insATT NP_001245202.1:p.Val479_Tyr480insIle
NM_001258274.1:c.1437_1438insATT NP_001245203.1:p.Val479_Tyr480insIle
XM_005265161.1:c.1953_1954insATT XP_005265218.1:p.Val651_Tyr652insIle
XM_005265163.1:c.1437_1438insATT XP_005265220.1:p.Val479_Tyr480insIle
XM_005265164.1:c.1437_1438insATT XP_005265221.1:p.Val479_Tyr480insIle
XM_005265166.1:c.1137_1138insATT XP_005265223.1:p.Val379_Tyr380insIle
XM_011533727.1:c.1086_1087insATT XP_011532029.1:p.Val362_Tyr363insIle
NM_001167617.2:c.1866_1867insATT NP_001161089.1:p.Val622_Tyr623insIle
NM_001167618.2:c.1437_1438insATT NP_001161090.1:p.Val479_Tyr480insIle
NM_001167619.2:c.1437_1438insATT NP_001161091.1:p.Val479_Tyr480insIle
NM_001258274.2:c.1437_1438insATT NP_001245203.1:p.Val479_Tyr480insIle
NM_001354615.1:c.1437_1438insATT NP_001341544.1:p.Val479_Tyr480insIle
NM_001354616.1:c.1437_1438insATT NP_001341545.1:p.Val479_Tyr480insIle
NM_001354617.1:c.1437_1438insATT NP_001341546.1:p.Val479_Tyr480insIle
NM_001354618.1:c.1437_1438insATT NP_001341547.1:p.Val479_Tyr480insIle
NM_001354619.1:c.1437_1438insATT NP_001341548.1:p.Val479_Tyr480insIle
NM_001354620.1:c.1866_1867insATT NP_001341549.1:p.Val622_Tyr623insIle
NM_001354621.1:c.1137_1138insATT NP_001341550.1:p.Val379_Tyr380insIle
NM_001354622.1:c.1137_1138insATT NP_001341551.1:p.Val379_Tyr380insIle
NM_001354623.1:c.1137_1138insATT NP_001341552.1:p.Val379_Tyr380insIle
NM_001354624.1:c.1086_1087insATT NP_001341553.1:p.Val362_Tyr363insIle
NM_001354625.1:c.1086_1087insATT NP_001341554.1:p.Val362_Tyr363insIle
NM_001354626.1:c.1086_1087insATT NP_001341555.1:p.Val362_Tyr363insIle
NM_001354627.1:c.1086_1087insATT NP_001341556.1:p.Val362_Tyr363insIle
NM_001354628.1:c.2067_2068insATT NP_001341557.1:p.Val689_Tyr690insIle
NM_001354629.1:c.2061_2062insATT NP_001341558.1:p.Val687_Tyr688insIle
NM_001354630.1:c.1995_1996insATT NP_001341559.1:p.Val665_Tyr666insIle
XM_005265161.2:c.1953_1954insATT XP_005265218.1:p.Val651_Tyr652insIle
XM_017006450.2:c.1137_1138insATT XP_016861939.1:p.Val379_Tyr380insIle
NM_000249.4:c.2160_2161insATT MANE Select NP_000240.1:p.Val720_Tyr721insIle
NM_001167617.3:c.1866_1867insATT NP_001161089.1:p.Val622_Tyr623insIle
NM_001167618.3:c.1437_1438insATT NP_001161090.1:p.Val479_Tyr480insIle
NM_001167619.3:c.1437_1438insATT NP_001161091.1:p.Val479_Tyr480insIle
NM_001258271.2:c.1953_1954insATT NP_001245200.1:p.Val651_Tyr652insIle
NM_001258273.2:c.1437_1438insATT NP_001245202.1:p.Val479_Tyr480insIle
NM_001258274.3:c.1437_1438insATT NP_001245203.1:p.Val479_Tyr480insIle
NM_001354615.2:c.1437_1438insATT NP_001341544.1:p.Val479_Tyr480insIle
NM_001354616.2:c.1437_1438insATT NP_001341545.1:p.Val479_Tyr480insIle
NM_001354617.2:c.1437_1438insATT NP_001341546.1:p.Val479_Tyr480insIle
NM_001354618.2:c.1437_1438insATT NP_001341547.1:p.Val479_Tyr480insIle
NM_001354619.2:c.1437_1438insATT NP_001341548.1:p.Val479_Tyr480insIle
NM_001354620.2:c.1866_1867insATT NP_001341549.1:p.Val622_Tyr623insIle
NM_001354621.2:c.1137_1138insATT NP_001341550.1:p.Val379_Tyr380insIle
NM_001354622.2:c.1137_1138insATT NP_001341551.1:p.Val379_Tyr380insIle
NM_001354623.2:c.1137_1138insATT NP_001341552.1:p.Val379_Tyr380insIle
NM_001354624.2:c.1086_1087insATT NP_001341553.1:p.Val362_Tyr363insIle
NM_001354625.2:c.1086_1087insATT NP_001341554.1:p.Val362_Tyr363insIle
NM_001354626.2:c.1086_1087insATT NP_001341555.1:p.Val362_Tyr363insIle
NM_001354627.2:c.1086_1087insATT NP_001341556.1:p.Val362_Tyr363insIle
NM_001354628.2:c.2067_2068insATT NP_001341557.1:p.Val689_Tyr690insIle
NM_001354629.2:c.2061_2062insATT NP_001341558.1:p.Val687_Tyr688insIle
NM_001354630.2:c.1995_1996insATT NP_001341559.1:p.Val665_Tyr666insIle