Canonical Allele Identifier: CA1357890704
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37048519_37048520delinsAG , CM000665.2:g.37048519_37048520delinsAG GRCh38
NC_000003.11:g.37090010_37090011delinsAG , CM000665.1:g.37090010_37090011delinsAG GRCh37
NC_000003.10:g.37065014_37065015delinsAG NCBI36
NG_007109.2:g.60170_60171delinsAG , LRG_216:g.60170_60171delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-1967_1668-1966delinsAG ENSP00000416476.2:n.1668-1967_1668-1966delinsAG
ENST00000429117.6:c.1605_1606delinsAG ENSP00000407019.2:p.Glu535=
ENST00000450420.6:c.1559-1967_1559-1966delinsAG ENSP00000393006.2:n.1559-1967_1559-1966delinsAG
ENST00000456676.7:c.1896+836_1896+837delinsAG ENSP00000416687.3:n.1896+836_1896+837delinsAG
ENST00000492474.6:c.1176_1177delinsAG ENSP00000518393.1:p.Glu392=
ENST00000616768.6:c.1897-385_1897-384delinsAG ENSP00000480669.3:n.1897-385_1897-384delinsAG
ENST00000673673.2:c.1734_1735delinsAG ENSP00000500979.2:p.Glu578=
ENST00000231790.8:c.1899_1900delinsAG MANE Select ENSP00000231790.3:p.Glu633=
ENST00000413212.2:c.*817_*818delinsAG ENSP00000400844.2:n.*817_*818delinsAG
ENST00000432299.6:c.*1731_*1732delinsAG ENSP00000416783.1:n.*1731_*1732delinsAG
ENST00000447829.6:c.*1010_*1011delinsAG ENSP00000399329.2:n.*1010_*1011delinsAG
ENST00000539477.6:c.1176_1177delinsAG ENSP00000443665.1:p.Glu392=
ENST00000616768.5:c.934-385_934-384delinsAG ENSP00000480669.2:n.934-385_934-384delinsAG
ENST00000673673.1:c.1687_1688delinsAG
ENST00000673741.1:n.933_934delinsAG
ENST00000673889.1:n.1281_1282delinsAG
ENST00000673897.1:c.*1691_*1692delinsAG ENSP00000501109.1:n.*1691_*1692delinsAG
ENST00000673899.1:c.1167_1168delinsAG ENSP00000501030.1:p.Glu389=
ENST00000673947.1:c.*2039_*2040delinsAG ENSP00000501304.1:n.*2039_*2040delinsAG
ENST00000673972.1:c.*1777_*1778delinsAG ENSP00000501281.1:n.*1777_*1778delinsAG
ENST00000674019.1:c.1176_1177delinsAG ENSP00000501081.1:p.Glu392=
ENST00000674111.1:c.*128_*129delinsAG ENSP00000501162.1:n.*128_*129delinsAG
ENST00000674125.1:n.610_611delinsAG
ENST00000231790.6:c.1899_1900delinsAG ENSP00000231790.2:p.Glu633=
ENST00000413740.1:c.291-1967_291-1966delinsAG ENSP00000416476.1:n.291-1967_291-1966delinsAG
ENST00000435176.5:c.1605_1606delinsAG ENSP00000402564.1:p.Glu535=
ENST00000450420.5:c.182-1967_182-1966delinsAG ENSP00000393006.1:n.182-1967_182-1966delinsAG
ENST00000455445.6:c.1176_1177delinsAG ENSP00000398272.2:p.Glu392=
ENST00000456676.6:c.1871+836_1871+837delinsAG
ENST00000458205.6:c.1176_1177delinsAG ENSP00000402667.2:p.Glu392=
ENST00000536378.5:c.1176_1177delinsAG ENSP00000444286.2:p.Glu392=
ENST00000539477.5:c.1176_1177delinsAG ENSP00000443665.1:p.Glu392=
NM_000249.3:c.1899_1900delinsAG , LRG_216t1:c.1899_1900delinsAG NP_000240.1:p.Glu633=
NM_001167617.1:c.1605_1606delinsAG NP_001161089.1:p.Glu535=
NM_001167618.1:c.1176_1177delinsAG NP_001161090.1:p.Glu392=
NM_001167619.1:c.1176_1177delinsAG NP_001161091.1:p.Glu392=
NM_001258271.1:c.1896+836_1896+837delinsAG NP_001245200.1:n.1896+836_1896+837delinsAG
NM_001258273.1:c.1176_1177delinsAG NP_001245202.1:p.Glu392=
NM_001258274.1:c.1176_1177delinsAG NP_001245203.1:p.Glu392=
XM_005265161.1:c.1692_1693delinsAG XP_005265218.1:p.Glu564=
XM_005265163.1:c.1176_1177delinsAG XP_005265220.1:p.Glu392=
XM_005265164.1:c.1176_1177delinsAG XP_005265221.1:p.Glu392=
XM_005265166.1:c.876_877delinsAG XP_005265223.1:p.Glu292=
XM_011533727.1:c.825_826delinsAG XP_011532029.1:p.Glu275=
NM_001167617.2:c.1605_1606delinsAG NP_001161089.1:p.Glu535=
NM_001167618.2:c.1176_1177delinsAG NP_001161090.1:p.Glu392=
NM_001167619.2:c.1176_1177delinsAG NP_001161091.1:p.Glu392=
NM_001258274.2:c.1176_1177delinsAG NP_001245203.1:p.Glu392=
NM_001354615.1:c.1176_1177delinsAG NP_001341544.1:p.Glu392=
NM_001354616.1:c.1176_1177delinsAG NP_001341545.1:p.Glu392=
NM_001354617.1:c.1176_1177delinsAG NP_001341546.1:p.Glu392=
NM_001354618.1:c.1176_1177delinsAG NP_001341547.1:p.Glu392=
NM_001354619.1:c.1176_1177delinsAG NP_001341548.1:p.Glu392=
NM_001354620.1:c.1605_1606delinsAG NP_001341549.1:p.Glu535=
NM_001354621.1:c.876_877delinsAG NP_001341550.1:p.Glu292=
NM_001354622.1:c.876_877delinsAG NP_001341551.1:p.Glu292=
NM_001354623.1:c.876_877delinsAG NP_001341552.1:p.Glu292=
NM_001354624.1:c.825_826delinsAG NP_001341553.1:p.Glu275=
NM_001354625.1:c.825_826delinsAG NP_001341554.1:p.Glu275=
NM_001354626.1:c.825_826delinsAG NP_001341555.1:p.Glu275=
NM_001354627.1:c.825_826delinsAG NP_001341556.1:p.Glu275=
NM_001354628.1:c.1897-385_1897-384delinsAG NP_001341557.1:n.1897-385_1897-384delinsAG
NM_001354629.1:c.1800_1801delinsAG NP_001341558.1:p.Glu600=
NM_001354630.1:c.1734_1735delinsAG NP_001341559.1:p.Glu578=
XM_005265161.2:c.1692_1693delinsAG XP_005265218.1:p.Glu564=
XM_017006450.2:c.876_877delinsAG XP_016861939.1:p.Glu292=
NM_000249.4:c.1899_1900delinsAG MANE Select NP_000240.1:p.Glu633=
NM_001167617.3:c.1605_1606delinsAG NP_001161089.1:p.Glu535=
NM_001167618.3:c.1176_1177delinsAG NP_001161090.1:p.Glu392=
NM_001167619.3:c.1176_1177delinsAG NP_001161091.1:p.Glu392=
NM_001258271.2:c.1896+836_1896+837delinsAG NP_001245200.1:n.1896+836_1896+837delinsAG
NM_001258273.2:c.1176_1177delinsAG NP_001245202.1:p.Glu392=
NM_001258274.3:c.1176_1177delinsAG NP_001245203.1:p.Glu392=
NM_001354615.2:c.1176_1177delinsAG NP_001341544.1:p.Glu392=
NM_001354616.2:c.1176_1177delinsAG NP_001341545.1:p.Glu392=
NM_001354617.2:c.1176_1177delinsAG NP_001341546.1:p.Glu392=
NM_001354618.2:c.1176_1177delinsAG NP_001341547.1:p.Glu392=
NM_001354619.2:c.1176_1177delinsAG NP_001341548.1:p.Glu392=
NM_001354620.2:c.1605_1606delinsAG NP_001341549.1:p.Glu535=
NM_001354621.2:c.876_877delinsAG NP_001341550.1:p.Glu292=
NM_001354622.2:c.876_877delinsAG NP_001341551.1:p.Glu292=
NM_001354623.2:c.876_877delinsAG NP_001341552.1:p.Glu292=
NM_001354624.2:c.825_826delinsAG NP_001341553.1:p.Glu275=
NM_001354625.2:c.825_826delinsAG NP_001341554.1:p.Glu275=
NM_001354626.2:c.825_826delinsAG NP_001341555.1:p.Glu275=
NM_001354627.2:c.825_826delinsAG NP_001341556.1:p.Glu275=
NM_001354628.2:c.1897-385_1897-384delinsAG NP_001341557.1:n.1897-385_1897-384delinsAG
NM_001354629.2:c.1800_1801delinsAG NP_001341558.1:p.Glu600=
NM_001354630.2:c.1734_1735delinsAG NP_001341559.1:p.Glu578=