Canonical Allele Identifier: CA1357864859
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993616_36993617delinsAG , CM000665.2:g.36993616_36993617delinsAG GRCh38
NC_000003.11:g.37035107_37035108delinsAG , CM000665.1:g.37035107_37035108delinsAG GRCh37
NC_000003.10:g.37010111_37010112delinsAG NCBI36
NG_007109.2:g.5267_5268delinsAG , LRG_216:g.5267_5268delinsAG
NG_008418.1:g.4688_4689delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.69_70delinsAG ENSP00000416476.2:p.Glu23=
ENST00000450420.6:c.69_70delinsAG ENSP00000393006.2:p.Glu23=
ENST00000456676.7:c.69_70delinsAG ENSP00000416687.3:p.Glu23=
ENST00000458009.6:c.69_70delinsAG ENSP00000411066.2:p.Glu23=
ENST00000616768.6:c.69_70delinsAG ENSP00000480669.3:p.Glu23=
ENST00000673673.2:c.69_70delinsAG ENSP00000500979.2:p.Glu23=
ENST00000231790.8:c.69_70delinsAG MANE Select ENSP00000231790.3:p.Glu23=
ENST00000432299.6:c.69_70delinsAG ENSP00000416783.1:p.Glu23=
ENST00000442249.6:n.84_85delinsAG
ENST00000673673.1:c.22_23delinsAG
ENST00000673713.1:n.100_101delinsAG
ENST00000673715.1:c.69_70delinsAG ENSP00000501301.1:p.Glu23=
ENST00000673897.1:c.69_70delinsAG ENSP00000501109.1:p.Glu23=
ENST00000673899.1:c.69_70delinsAG ENSP00000501030.1:p.Glu23=
ENST00000673947.1:c.69_70delinsAG ENSP00000501304.1:p.Glu23=
ENST00000673972.1:c.69_70delinsAG ENSP00000501281.1:p.Glu23=
ENST00000674111.1:c.69_70delinsAG ENSP00000501162.1:p.Glu23=
ENST00000231790.6:c.69_70delinsAG ENSP00000231790.2:p.Glu23=
ENST00000432299.5:c.69_70delinsAG ENSP00000416783.1:p.Glu23=
ENST00000442249.5:c.69_70delinsAG ENSP00000387511.1:p.Glu23=
ENST00000454028.5:c.69_70delinsAG ENSP00000392649.1:p.Glu23=
ENST00000456676.6:c.44_45delinsAG
ENST00000457004.5:c.69_70delinsAG ENSP00000407773.1:p.Glu23=
ENST00000536378.5:c.-564_-563delinsAG ENSP00000444286.2:n.-564_-563delinsAG
NM_000249.3:c.69_70delinsAG , LRG_216t1:c.69_70delinsAG NP_000240.1:p.Glu23=
NM_001258271.1:c.69_70delinsAG NP_001245200.1:p.Glu23=
NM_001258273.1:c.-564_-563delinsAG NP_001245202.1:n.-564_-563delinsAG
XM_005265161.1:c.69_70delinsAG XP_005265218.1:p.Glu23=
XM_005265164.1:c.-650_-649delinsAG XP_005265221.1:n.-650_-649delinsAG
NM_001167617.2:c.-448_-447delinsAG NP_001161089.1:n.-448_-447delinsAG
NM_001167618.2:c.-877_-876delinsAG NP_001161090.1:n.-877_-876delinsAG
NM_001167619.2:c.-790_-789delinsAG NP_001161091.1:n.-790_-789delinsAG
NM_001258274.2:c.-1027_-1026delinsAG NP_001245203.1:n.-1027_-1026delinsAG
NM_001354615.1:c.-558_-557delinsAG NP_001341544.1:n.-558_-557delinsAG
NM_001354616.1:c.-558_-557delinsAG NP_001341545.1:n.-558_-557delinsAG
NM_001354617.1:c.-650_-649delinsAG NP_001341546.1:n.-650_-649delinsAG
NM_001354618.1:c.-882_-881delinsAG NP_001341547.1:n.-882_-881delinsAG
NM_001354619.1:c.-1006_-1005delinsAG NP_001341548.1:n.-1006_-1005delinsAG
NM_001354620.1:c.-216_-215delinsAG NP_001341549.1:n.-216_-215delinsAG
NM_001354621.1:c.-975_-974delinsAG NP_001341550.1:n.-975_-974delinsAG
NM_001354622.1:c.-1088_-1087delinsAG NP_001341551.1:n.-1088_-1087delinsAG
NM_001354623.1:c.-997_-996delinsAG NP_001341552.1:n.-997_-996delinsAG
NM_001354624.1:c.-758_-757delinsAG NP_001341553.1:n.-758_-757delinsAG
NM_001354625.1:c.-656_-655delinsAG NP_001341554.1:n.-656_-655delinsAG
NM_001354626.1:c.-753_-752delinsAG NP_001341555.1:n.-753_-752delinsAG
NM_001354627.1:c.-985_-984delinsAG NP_001341556.1:n.-985_-984delinsAG
NM_001354628.1:c.69_70delinsAG NP_001341557.1:p.Glu23=
NM_001354629.1:c.69_70delinsAG NP_001341558.1:p.Glu23=
NM_001354630.1:c.69_70delinsAG NP_001341559.1:p.Glu23=
XM_005265161.2:c.69_70delinsAG XP_005265218.1:p.Glu23=
XM_017006450.2:c.-743_-742delinsAG XP_016861939.1:n.-743_-742delinsAG
NM_000249.4:c.69_70delinsAG MANE Select NP_000240.1:p.Glu23=
NM_001167617.3:c.-448_-447delinsAG NP_001161089.1:n.-448_-447delinsAG
NM_001167618.3:c.-877_-876delinsAG NP_001161090.1:n.-877_-876delinsAG
NM_001167619.3:c.-790_-789delinsAG NP_001161091.1:n.-790_-789delinsAG
NM_001258271.2:c.69_70delinsAG NP_001245200.1:p.Glu23=
NM_001258273.2:c.-564_-563delinsAG NP_001245202.1:n.-564_-563delinsAG
NM_001258274.3:c.-1027_-1026delinsAG NP_001245203.1:n.-1027_-1026delinsAG
NM_001354615.2:c.-558_-557delinsAG NP_001341544.1:n.-558_-557delinsAG
NM_001354616.2:c.-558_-557delinsAG NP_001341545.1:n.-558_-557delinsAG
NM_001354617.2:c.-650_-649delinsAG NP_001341546.1:n.-650_-649delinsAG
NM_001354618.2:c.-882_-881delinsAG NP_001341547.1:n.-882_-881delinsAG
NM_001354619.2:c.-1006_-1005delinsAG NP_001341548.1:n.-1006_-1005delinsAG
NM_001354620.2:c.-216_-215delinsAG NP_001341549.1:n.-216_-215delinsAG
NM_001354621.2:c.-975_-974delinsAG NP_001341550.1:n.-975_-974delinsAG
NM_001354622.2:c.-1088_-1087delinsAG NP_001341551.1:n.-1088_-1087delinsAG
NM_001354623.2:c.-997_-996delinsAG NP_001341552.1:n.-997_-996delinsAG
NM_001354624.2:c.-758_-757delinsAG NP_001341553.1:n.-758_-757delinsAG
NM_001354625.2:c.-656_-655delinsAG NP_001341554.1:n.-656_-655delinsAG
NM_001354626.2:c.-753_-752delinsAG NP_001341555.1:n.-753_-752delinsAG
NM_001354627.2:c.-985_-984delinsAG NP_001341556.1:n.-985_-984delinsAG
NM_001354628.2:c.69_70delinsAG NP_001341557.1:p.Glu23=
NM_001354629.2:c.69_70delinsAG NP_001341558.1:p.Glu23=
NM_001354630.2:c.69_70delinsAG NP_001341559.1:p.Glu23=