Canonical Allele Identifier: CA1357890225
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047638_37047640delinsGAA , CM000665.2:g.37047638_37047640delinsGAA GRCh38
NC_000003.11:g.37089129_37089131delinsGAA , CM000665.1:g.37089129_37089131delinsGAA GRCh37
NC_000003.10:g.37064133_37064135delinsGAA NCBI36
NG_007109.2:g.59289_59291delinsGAA , LRG_216:g.59289_59291delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-2848_1668-2846delinsGAA ENSP00000416476.2:n.1668-2848_1668-2846delinsGAA
ENST00000429117.6:c.1557_1559delinsGAA ENSP00000407019.2:p.Lys519=
ENST00000450420.6:c.1559-2848_1559-2846delinsGAA ENSP00000393006.2:n.1559-2848_1559-2846delinsGAA
ENST00000456676.7:c.1851_1853delinsGAA ENSP00000416687.3:p.Lys617=
ENST00000492474.6:c.1128_1130delinsGAA ENSP00000518393.1:p.Lys376=
ENST00000616768.6:c.1851_1853delinsGAA ENSP00000480669.3:p.Lys617=
ENST00000673673.2:c.1732-879_1732-877delinsGAA ENSP00000500979.2:n.1732-879_1732-877delinsGAA
ENST00000231790.8:c.1851_1853delinsGAA MANE Select ENSP00000231790.3:p.Lys617=
ENST00000413212.2:c.*769_*771delinsGAA ENSP00000400844.2:n.*769_*771delinsGAA
ENST00000432299.6:c.*1683_*1685delinsGAA ENSP00000416783.1:n.*1683_*1685delinsGAA
ENST00000441265.6:c.*80_*82delinsGAA ENSP00000398392.2:n.*80_*82delinsGAA
ENST00000447829.6:c.*962_*964delinsGAA ENSP00000399329.2:n.*962_*964delinsGAA
ENST00000539477.6:c.1128_1130delinsGAA ENSP00000443665.1:p.Lys376=
ENST00000616768.5:c.888_890delinsGAA ENSP00000480669.2:p.Lys296=
ENST00000673673.1:c.1685-879_1685-877delinsGAA
ENST00000673715.1:c.1851_1853delinsGAA ENSP00000501301.1:p.Lys617=
ENST00000673741.1:n.885_887delinsGAA
ENST00000673889.1:n.1233_1235delinsGAA
ENST00000673897.1:c.*1643_*1645delinsGAA ENSP00000501109.1:n.*1643_*1645delinsGAA
ENST00000673899.1:c.1119_1121delinsGAA ENSP00000501030.1:p.Lys373=
ENST00000673947.1:c.*1991_*1993delinsGAA ENSP00000501304.1:n.*1991_*1993delinsGAA
ENST00000673972.1:c.*1729_*1731delinsGAA ENSP00000501281.1:n.*1729_*1731delinsGAA
ENST00000674019.1:c.1128_1130delinsGAA ENSP00000501081.1:p.Lys376=
ENST00000674111.1:c.*80_*82delinsGAA ENSP00000501162.1:n.*80_*82delinsGAA
ENST00000674125.1:n.562_564delinsGAA
ENST00000231790.6:c.1851_1853delinsGAA ENSP00000231790.2:p.Lys617=
ENST00000413740.1:c.291-2848_291-2846delinsGAA ENSP00000416476.1:n.291-2848_291-2846delinsGAA
ENST00000435176.5:c.1557_1559delinsGAA ENSP00000402564.1:p.Lys519=
ENST00000450420.5:c.182-2848_182-2846delinsGAA ENSP00000393006.1:n.182-2848_182-2846delinsGAA
ENST00000455445.6:c.1128_1130delinsGAA ENSP00000398272.2:p.Lys376=
ENST00000456676.6:c.1826_1828delinsGAA
ENST00000458205.6:c.1128_1130delinsGAA ENSP00000402667.2:p.Lys376=
ENST00000536378.5:c.1128_1130delinsGAA ENSP00000444286.2:p.Lys376=
ENST00000539477.5:c.1128_1130delinsGAA ENSP00000443665.1:p.Lys376=
ENST00000616768.4:c.619_621delinsGAA
NM_000249.3:c.1851_1853delinsGAA , LRG_216t1:c.1851_1853delinsGAA NP_000240.1:p.Lys617=
NM_001167617.1:c.1557_1559delinsGAA NP_001161089.1:p.Lys519=
NM_001167618.1:c.1128_1130delinsGAA NP_001161090.1:p.Lys376=
NM_001167619.1:c.1128_1130delinsGAA NP_001161091.1:p.Lys376=
NM_001258271.1:c.1851_1853delinsGAA NP_001245200.1:p.Lys617=
NM_001258273.1:c.1128_1130delinsGAA NP_001245202.1:p.Lys376=
NM_001258274.1:c.1128_1130delinsGAA NP_001245203.1:p.Lys376=
XM_005265161.1:c.1644_1646delinsGAA XP_005265218.1:p.Lys548=
XM_005265163.1:c.1128_1130delinsGAA XP_005265220.1:p.Lys376=
XM_005265164.1:c.1128_1130delinsGAA XP_005265221.1:p.Lys376=
XM_005265166.1:c.828_830delinsGAA XP_005265223.1:p.Lys276=
XM_011533727.1:c.777_779delinsGAA XP_011532029.1:p.Lys259=
NM_001167617.2:c.1557_1559delinsGAA NP_001161089.1:p.Lys519=
NM_001167618.2:c.1128_1130delinsGAA NP_001161090.1:p.Lys376=
NM_001167619.2:c.1128_1130delinsGAA NP_001161091.1:p.Lys376=
NM_001258274.2:c.1128_1130delinsGAA NP_001245203.1:p.Lys376=
NM_001354615.1:c.1128_1130delinsGAA NP_001341544.1:p.Lys376=
NM_001354616.1:c.1128_1130delinsGAA NP_001341545.1:p.Lys376=
NM_001354617.1:c.1128_1130delinsGAA NP_001341546.1:p.Lys376=
NM_001354618.1:c.1128_1130delinsGAA NP_001341547.1:p.Lys376=
NM_001354619.1:c.1128_1130delinsGAA NP_001341548.1:p.Lys376=
NM_001354620.1:c.1557_1559delinsGAA NP_001341549.1:p.Lys519=
NM_001354621.1:c.828_830delinsGAA NP_001341550.1:p.Lys276=
NM_001354622.1:c.828_830delinsGAA NP_001341551.1:p.Lys276=
NM_001354623.1:c.828_830delinsGAA NP_001341552.1:p.Lys276=
NM_001354624.1:c.777_779delinsGAA NP_001341553.1:p.Lys259=
NM_001354625.1:c.777_779delinsGAA NP_001341554.1:p.Lys259=
NM_001354626.1:c.777_779delinsGAA NP_001341555.1:p.Lys259=
NM_001354627.1:c.777_779delinsGAA NP_001341556.1:p.Lys259=
NM_001354628.1:c.1851_1853delinsGAA NP_001341557.1:p.Lys617=
NM_001354629.1:c.1752_1754delinsGAA NP_001341558.1:p.Lys584=
NM_001354630.1:c.1732-879_1732-877delinsGAA NP_001341559.1:n.1732-879_1732-877delinsGAA
XM_005265161.2:c.1644_1646delinsGAA XP_005265218.1:p.Lys548=
XM_017006450.2:c.828_830delinsGAA XP_016861939.1:p.Lys276=
NM_000249.4:c.1851_1853delinsGAA MANE Select NP_000240.1:p.Lys617=
NM_001167617.3:c.1557_1559delinsGAA NP_001161089.1:p.Lys519=
NM_001167618.3:c.1128_1130delinsGAA NP_001161090.1:p.Lys376=
NM_001167619.3:c.1128_1130delinsGAA NP_001161091.1:p.Lys376=
NM_001258271.2:c.1851_1853delinsGAA NP_001245200.1:p.Lys617=
NM_001258273.2:c.1128_1130delinsGAA NP_001245202.1:p.Lys376=
NM_001258274.3:c.1128_1130delinsGAA NP_001245203.1:p.Lys376=
NM_001354615.2:c.1128_1130delinsGAA NP_001341544.1:p.Lys376=
NM_001354616.2:c.1128_1130delinsGAA NP_001341545.1:p.Lys376=
NM_001354617.2:c.1128_1130delinsGAA NP_001341546.1:p.Lys376=
NM_001354618.2:c.1128_1130delinsGAA NP_001341547.1:p.Lys376=
NM_001354619.2:c.1128_1130delinsGAA NP_001341548.1:p.Lys376=
NM_001354620.2:c.1557_1559delinsGAA NP_001341549.1:p.Lys519=
NM_001354621.2:c.828_830delinsGAA NP_001341550.1:p.Lys276=
NM_001354622.2:c.828_830delinsGAA NP_001341551.1:p.Lys276=
NM_001354623.2:c.828_830delinsGAA NP_001341552.1:p.Lys276=
NM_001354624.2:c.777_779delinsGAA NP_001341553.1:p.Lys259=
NM_001354625.2:c.777_779delinsGAA NP_001341554.1:p.Lys259=
NM_001354626.2:c.777_779delinsGAA NP_001341555.1:p.Lys259=
NM_001354627.2:c.777_779delinsGAA NP_001341556.1:p.Lys259=
NM_001354628.2:c.1851_1853delinsGAA NP_001341557.1:p.Lys617=
NM_001354629.2:c.1752_1754delinsGAA NP_001341558.1:p.Lys584=
NM_001354630.2:c.1732-879_1732-877delinsGAA NP_001341559.1:n.1732-879_1732-877delinsGAA