Canonical Allele Identifier: CA1357864909
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993657_36993658delinsAG , CM000665.2:g.36993657_36993658delinsAG GRCh38
NC_000003.11:g.37035148_37035149delinsAG , CM000665.1:g.37035148_37035149delinsAG GRCh37
NC_000003.10:g.37010152_37010153delinsAG NCBI36
NG_007109.2:g.5308_5309delinsAG , LRG_216:g.5308_5309delinsAG
NG_008418.1:g.4647_4648delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.110_111delinsAG ENSP00000416476.2:p.Glu37=
ENST00000450420.6:c.110_111delinsAG ENSP00000393006.2:p.Glu37=
ENST00000456676.7:c.110_111delinsAG ENSP00000416687.3:p.Glu37=
ENST00000458009.6:c.110_111delinsAG ENSP00000411066.2:p.Glu37=
ENST00000616768.6:c.110_111delinsAG ENSP00000480669.3:p.Glu37=
ENST00000673673.2:c.110_111delinsAG ENSP00000500979.2:p.Glu37=
ENST00000231790.8:c.110_111delinsAG MANE Select ENSP00000231790.3:p.Glu37=
ENST00000432299.6:c.110_111delinsAG ENSP00000416783.1:p.Glu37=
ENST00000442249.6:n.125_126delinsAG
ENST00000673673.1:c.63_64delinsAG
ENST00000673713.1:n.141_142delinsAG
ENST00000673715.1:c.110_111delinsAG ENSP00000501301.1:p.Glu37=
ENST00000673897.1:c.110_111delinsAG ENSP00000501109.1:p.Glu37=
ENST00000673899.1:c.110_111delinsAG ENSP00000501030.1:p.Glu37=
ENST00000673947.1:c.110_111delinsAG ENSP00000501304.1:p.Glu37=
ENST00000673972.1:c.110_111delinsAG ENSP00000501281.1:p.Glu37=
ENST00000674111.1:c.110_111delinsAG ENSP00000501162.1:p.Glu37=
ENST00000231790.6:c.110_111delinsAG ENSP00000231790.2:p.Glu37=
ENST00000432299.5:c.110_111delinsAG ENSP00000416783.1:p.Glu37=
ENST00000442249.5:c.110_111delinsAG ENSP00000387511.1:p.Glu37=
ENST00000454028.5:c.110_111delinsAG ENSP00000392649.1:p.Glu37=
ENST00000456676.6:c.85_86delinsAG
ENST00000457004.5:c.110_111delinsAG ENSP00000407773.1:p.Glu37=
ENST00000536378.5:c.-523_-522delinsAG ENSP00000444286.2:n.-523_-522delinsAG
NM_000249.3:c.110_111delinsAG , LRG_216t1:c.110_111delinsAG NP_000240.1:p.Glu37=
NM_001258271.1:c.110_111delinsAG NP_001245200.1:p.Glu37=
NM_001258273.1:c.-523_-522delinsAG NP_001245202.1:n.-523_-522delinsAG
XM_005265161.1:c.110_111delinsAG XP_005265218.1:p.Glu37=
XM_005265164.1:c.-609_-608delinsAG XP_005265221.1:n.-609_-608delinsAG
NM_001167617.2:c.-407_-406delinsAG NP_001161089.1:n.-407_-406delinsAG
NM_001167618.2:c.-836_-835delinsAG NP_001161090.1:n.-836_-835delinsAG
NM_001167619.2:c.-749_-748delinsAG NP_001161091.1:n.-749_-748delinsAG
NM_001258274.2:c.-986_-985delinsAG NP_001245203.1:n.-986_-985delinsAG
NM_001354615.1:c.-517_-516delinsAG NP_001341544.1:n.-517_-516delinsAG
NM_001354616.1:c.-517_-516delinsAG NP_001341545.1:n.-517_-516delinsAG
NM_001354617.1:c.-609_-608delinsAG NP_001341546.1:n.-609_-608delinsAG
NM_001354618.1:c.-841_-840delinsAG NP_001341547.1:n.-841_-840delinsAG
NM_001354619.1:c.-965_-964delinsAG NP_001341548.1:n.-965_-964delinsAG
NM_001354620.1:c.-175_-174delinsAG NP_001341549.1:n.-175_-174delinsAG
NM_001354621.1:c.-934_-933delinsAG NP_001341550.1:n.-934_-933delinsAG
NM_001354622.1:c.-1047_-1046delinsAG NP_001341551.1:n.-1047_-1046delinsAG
NM_001354623.1:c.-956_-955delinsAG NP_001341552.1:n.-956_-955delinsAG
NM_001354624.1:c.-717_-716delinsAG NP_001341553.1:n.-717_-716delinsAG
NM_001354625.1:c.-615_-614delinsAG NP_001341554.1:n.-615_-614delinsAG
NM_001354626.1:c.-712_-711delinsAG NP_001341555.1:n.-712_-711delinsAG
NM_001354627.1:c.-944_-943delinsAG NP_001341556.1:n.-944_-943delinsAG
NM_001354628.1:c.110_111delinsAG NP_001341557.1:p.Glu37=
NM_001354629.1:c.110_111delinsAG NP_001341558.1:p.Glu37=
NM_001354630.1:c.110_111delinsAG NP_001341559.1:p.Glu37=
XM_005265161.2:c.110_111delinsAG XP_005265218.1:p.Glu37=
XM_017006450.2:c.-702_-701delinsAG XP_016861939.1:n.-702_-701delinsAG
NM_000249.4:c.110_111delinsAG MANE Select NP_000240.1:p.Glu37=
NM_001167617.3:c.-407_-406delinsAG NP_001161089.1:n.-407_-406delinsAG
NM_001167618.3:c.-836_-835delinsAG NP_001161090.1:n.-836_-835delinsAG
NM_001167619.3:c.-749_-748delinsAG NP_001161091.1:n.-749_-748delinsAG
NM_001258271.2:c.110_111delinsAG NP_001245200.1:p.Glu37=
NM_001258273.2:c.-523_-522delinsAG NP_001245202.1:n.-523_-522delinsAG
NM_001258274.3:c.-986_-985delinsAG NP_001245203.1:n.-986_-985delinsAG
NM_001354615.2:c.-517_-516delinsAG NP_001341544.1:n.-517_-516delinsAG
NM_001354616.2:c.-517_-516delinsAG NP_001341545.1:n.-517_-516delinsAG
NM_001354617.2:c.-609_-608delinsAG NP_001341546.1:n.-609_-608delinsAG
NM_001354618.2:c.-841_-840delinsAG NP_001341547.1:n.-841_-840delinsAG
NM_001354619.2:c.-965_-964delinsAG NP_001341548.1:n.-965_-964delinsAG
NM_001354620.2:c.-175_-174delinsAG NP_001341549.1:n.-175_-174delinsAG
NM_001354621.2:c.-934_-933delinsAG NP_001341550.1:n.-934_-933delinsAG
NM_001354622.2:c.-1047_-1046delinsAG NP_001341551.1:n.-1047_-1046delinsAG
NM_001354623.2:c.-956_-955delinsAG NP_001341552.1:n.-956_-955delinsAG
NM_001354624.2:c.-717_-716delinsAG NP_001341553.1:n.-717_-716delinsAG
NM_001354625.2:c.-615_-614delinsAG NP_001341554.1:n.-615_-614delinsAG
NM_001354626.2:c.-712_-711delinsAG NP_001341555.1:n.-712_-711delinsAG
NM_001354627.2:c.-944_-943delinsAG NP_001341556.1:n.-944_-943delinsAG
NM_001354628.2:c.110_111delinsAG NP_001341557.1:p.Glu37=
NM_001354629.2:c.110_111delinsAG NP_001341558.1:p.Glu37=
NM_001354630.2:c.110_111delinsAG NP_001341559.1:p.Glu37=