Canonical Allele Identifier: CA16617883
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419050
ClinVar RCV Id: RCV000486942
dbSNP Id: rs1064793607

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993641del , CM000665.2:g.36993641del GRCh38
NC_000003.11:g.37035132del , CM000665.1:g.37035132del GRCh37
NC_000003.10:g.37010136del NCBI36
NG_007109.2:g.5292del , LRG_216:g.5292del
NG_008418.1:g.4664del

Transcript Alleles

HGVS Amino-acid change
ENST00000231790.8:c.94del MANE Select ENSP00000231790.3:p.Ile32SerfsTer4
ENST00000432299.6:c.94del ENSP00000416783.1:p.Ile32SerfsTer4
ENST00000442249.6:n.109del
ENST00000673673.1:n.47del
ENST00000673713.1:n.125del
ENST00000673715.1:c.94del ENSP00000501301.1:p.Ile32SerfsTer4
ENST00000673897.1:c.94del ENSP00000501109.1:p.Ile32SerfsTer4
ENST00000673899.1:c.94del ENSP00000501030.1:p.Ile32SerfsTer4
ENST00000673947.1:c.94del ENSP00000501304.1:p.Ile32SerfsTer4
ENST00000673972.1:c.94del ENSP00000501281.1:p.Ile32SerfsTer4
ENST00000674111.1:c.94del ENSP00000501162.1:p.Ile32SerfsTer4
ENST00000231790.6:c.94del ENSP00000231790.2:p.Ile32SerfsTer4
ENST00000432299.5:c.94del ENSP00000416783.1:p.Ile32SerfsTer4
ENST00000442249.5:c.94del ENSP00000387511.1:p.Ile32SerfsTer4
ENST00000454028.5:c.94del ENSP00000392649.1:p.Ile32SerfsTer4
ENST00000456676.6:n.69del
ENST00000457004.5:c.94del ENSP00000407773.1:p.Ile32SerfsTer4
ENST00000536378.5:c.-539del ENSP00000444286.2:p.=
NM_000249.3:c.94del , LRG_216t1:c.94del NP_000240.1:p.Ile32SerfsTer4
NM_001258271.1:c.94del NP_001245200.1:p.Ile32SerfsTer4
NM_001258273.1:c.-539del NP_001245202.1:p.=
XM_005265161.1:c.94del XP_005265218.1:p.Ile32SerfsTer4
XM_005265164.1:c.-625del XP_005265221.1:p.=
NM_001167617.2:c.-423del NP_001161089.1:p.=
NM_001167618.2:c.-852del NP_001161090.1:p.=
NM_001167619.2:c.-765del NP_001161091.1:p.=
NM_001258274.2:c.-1002del NP_001245203.1:p.=
NM_001354615.1:c.-533del NP_001341544.1:p.=
NM_001354616.1:c.-533del NP_001341545.1:p.=
NM_001354617.1:c.-625del NP_001341546.1:p.=
NM_001354618.1:c.-857del NP_001341547.1:p.=
NM_001354619.1:c.-981del NP_001341548.1:p.=
NM_001354620.1:c.-191del NP_001341549.1:p.=
NM_001354621.1:c.-950del NP_001341550.1:p.=
NM_001354622.1:c.-1063del NP_001341551.1:p.=
NM_001354623.1:c.-972del NP_001341552.1:p.=
NM_001354624.1:c.-733del NP_001341553.1:p.=
NM_001354625.1:c.-631del NP_001341554.1:p.=
NM_001354626.1:c.-728del NP_001341555.1:p.=
NM_001354627.1:c.-960del NP_001341556.1:p.=
NM_001354628.1:c.94del NP_001341557.1:p.Ile32SerfsTer4
NM_001354629.1:c.94del NP_001341558.1:p.Ile32SerfsTer4
NM_001354630.1:c.94del NP_001341559.1:p.Ile32SerfsTer4
XM_005265161.2:c.94del XP_005265218.1:p.Ile32SerfsTer4
XM_017006450.2:c.-718del XP_016861939.1:p.=
NM_000249.4:c.94del MANE Select NP_000240.1:p.Ile32SerfsTer4
NM_001167617.3:c.-423del NP_001161089.1:p.=
NM_001167618.3:c.-852del NP_001161090.1:p.=
NM_001167619.3:c.-765del NP_001161091.1:p.=
NM_001258271.2:c.94del NP_001245200.1:p.Ile32SerfsTer4
NM_001258273.2:c.-539del NP_001245202.1:p.=
NM_001258274.3:c.-1002del NP_001245203.1:p.=
NM_001354615.2:c.-533del NP_001341544.1:p.=
NM_001354616.2:c.-533del NP_001341545.1:p.=
NM_001354617.2:c.-625del NP_001341546.1:p.=
NM_001354618.2:c.-857del NP_001341547.1:p.=
NM_001354619.2:c.-981del NP_001341548.1:p.=
NM_001354620.2:c.-191del NP_001341549.1:p.=
NM_001354621.2:c.-950del NP_001341550.1:p.=
NM_001354622.2:c.-1063del NP_001341551.1:p.=
NM_001354623.2:c.-972del NP_001341552.1:p.=
NM_001354624.2:c.-733del NP_001341553.1:p.=
NM_001354625.2:c.-631del NP_001341554.1:p.=
NM_001354626.2:c.-728del NP_001341555.1:p.=
NM_001354627.2:c.-960del NP_001341556.1:p.=
NM_001354628.2:c.94del NP_001341557.1:p.Ile32SerfsTer4
NM_001354629.2:c.94del NP_001341558.1:p.Ile32SerfsTer4
NM_001354630.2:c.94del NP_001341559.1:p.Ile32SerfsTer4