Canonical Allele Identifier: CA2499216668
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1057610
ClinVar RCV Id: RCV001366627 RCV004036979
dbSNP Id: rs2125694685
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993648_36993649delinsTT , CM000665.2:g.36993648_36993649delinsTT GRCh38
NC_000003.11:g.37035139_37035140delinsTT , CM000665.1:g.37035139_37035140delinsTT GRCh37
NC_000003.10:g.37010143_37010144delinsTT NCBI36
NG_007109.2:g.5299_5300delinsTT , LRG_216:g.5299_5300delinsTT
NG_008418.1:g.4656_4657delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.101_102delinsTT ENSP00000416476.2:p.Glu34Val
ENST00000450420.6:c.101_102delinsTT ENSP00000393006.2:p.Glu34Val
ENST00000456676.7:c.101_102delinsTT ENSP00000416687.3:p.Glu34Val
ENST00000458009.6:c.101_102delinsTT ENSP00000411066.2:p.Glu34Val
ENST00000616768.6:c.101_102delinsTT ENSP00000480669.3:p.Glu34Val
ENST00000673673.2:c.101_102delinsTT ENSP00000500979.2:p.Glu34Val
ENST00000231790.8:c.101_102delinsTT MANE Select ENSP00000231790.3:p.Glu34Val
ENST00000432299.6:c.101_102delinsTT ENSP00000416783.1:p.Glu34Val
ENST00000442249.6:n.116_117delinsTT
ENST00000673673.1:c.54_55delinsTT
ENST00000673713.1:n.132_133delinsTT
ENST00000673715.1:c.101_102delinsTT ENSP00000501301.1:p.Glu34Val
ENST00000673897.1:c.101_102delinsTT ENSP00000501109.1:p.Glu34Val
ENST00000673899.1:c.101_102delinsTT ENSP00000501030.1:p.Glu34Val
ENST00000673947.1:c.101_102delinsTT ENSP00000501304.1:p.Glu34Val
ENST00000673972.1:c.101_102delinsTT ENSP00000501281.1:p.Glu34Val
ENST00000674111.1:c.101_102delinsTT ENSP00000501162.1:p.Glu34Val
ENST00000231790.6:c.101_102delinsTT ENSP00000231790.2:p.Glu34Val
ENST00000432299.5:c.101_102delinsTT ENSP00000416783.1:p.Glu34Val
ENST00000442249.5:c.101_102delinsTT ENSP00000387511.1:p.Glu34Val
ENST00000454028.5:c.101_102delinsTT ENSP00000392649.1:p.Glu34Val
ENST00000456676.6:c.76_77delinsTT
ENST00000457004.5:c.101_102delinsTT ENSP00000407773.1:p.Glu34Val
ENST00000536378.5:c.-532_-531delinsTT ENSP00000444286.2:n.-532_-531delinsTT
NM_000249.3:c.101_102delinsTT , LRG_216t1:c.101_102delinsTT NP_000240.1:p.Glu34Val
NM_001258271.1:c.101_102delinsTT NP_001245200.1:p.Glu34Val
NM_001258273.1:c.-532_-531delinsTT NP_001245202.1:n.-532_-531delinsTT
XM_005265161.1:c.101_102delinsTT XP_005265218.1:p.Glu34Val
XM_005265164.1:c.-618_-617delinsTT XP_005265221.1:n.-618_-617delinsTT
NM_001167617.2:c.-416_-415delinsTT NP_001161089.1:n.-416_-415delinsTT
NM_001167618.2:c.-845_-844delinsTT NP_001161090.1:n.-845_-844delinsTT
NM_001167619.2:c.-758_-757delinsTT NP_001161091.1:n.-758_-757delinsTT
NM_001258274.2:c.-995_-994delinsTT NP_001245203.1:n.-995_-994delinsTT
NM_001354615.1:c.-526_-525delinsTT NP_001341544.1:n.-526_-525delinsTT
NM_001354616.1:c.-526_-525delinsTT NP_001341545.1:n.-526_-525delinsTT
NM_001354617.1:c.-618_-617delinsTT NP_001341546.1:n.-618_-617delinsTT
NM_001354618.1:c.-850_-849delinsTT NP_001341547.1:n.-850_-849delinsTT
NM_001354619.1:c.-974_-973delinsTT NP_001341548.1:n.-974_-973delinsTT
NM_001354620.1:c.-184_-183delinsTT NP_001341549.1:n.-184_-183delinsTT
NM_001354621.1:c.-943_-942delinsTT NP_001341550.1:n.-943_-942delinsTT
NM_001354622.1:c.-1056_-1055delinsTT NP_001341551.1:n.-1056_-1055delinsTT
NM_001354623.1:c.-965_-964delinsTT NP_001341552.1:n.-965_-964delinsTT
NM_001354624.1:c.-726_-725delinsTT NP_001341553.1:n.-726_-725delinsTT
NM_001354625.1:c.-624_-623delinsTT NP_001341554.1:n.-624_-623delinsTT
NM_001354626.1:c.-721_-720delinsTT NP_001341555.1:n.-721_-720delinsTT
NM_001354627.1:c.-953_-952delinsTT NP_001341556.1:n.-953_-952delinsTT
NM_001354628.1:c.101_102delinsTT NP_001341557.1:p.Glu34Val
NM_001354629.1:c.101_102delinsTT NP_001341558.1:p.Glu34Val
NM_001354630.1:c.101_102delinsTT NP_001341559.1:p.Glu34Val
XM_005265161.2:c.101_102delinsTT XP_005265218.1:p.Glu34Val
XM_017006450.2:c.-711_-710delinsTT XP_016861939.1:n.-711_-710delinsTT
NM_000249.4:c.101_102delinsTT MANE Select NP_000240.1:p.Glu34Val
NM_001167617.3:c.-416_-415delinsTT NP_001161089.1:n.-416_-415delinsTT
NM_001167618.3:c.-845_-844delinsTT NP_001161090.1:n.-845_-844delinsTT
NM_001167619.3:c.-758_-757delinsTT NP_001161091.1:n.-758_-757delinsTT
NM_001258271.2:c.101_102delinsTT NP_001245200.1:p.Glu34Val
NM_001258273.2:c.-532_-531delinsTT NP_001245202.1:n.-532_-531delinsTT
NM_001258274.3:c.-995_-994delinsTT NP_001245203.1:n.-995_-994delinsTT
NM_001354615.2:c.-526_-525delinsTT NP_001341544.1:n.-526_-525delinsTT
NM_001354616.2:c.-526_-525delinsTT NP_001341545.1:n.-526_-525delinsTT
NM_001354617.2:c.-618_-617delinsTT NP_001341546.1:n.-618_-617delinsTT
NM_001354618.2:c.-850_-849delinsTT NP_001341547.1:n.-850_-849delinsTT
NM_001354619.2:c.-974_-973delinsTT NP_001341548.1:n.-974_-973delinsTT
NM_001354620.2:c.-184_-183delinsTT NP_001341549.1:n.-184_-183delinsTT
NM_001354621.2:c.-943_-942delinsTT NP_001341550.1:n.-943_-942delinsTT
NM_001354622.2:c.-1056_-1055delinsTT NP_001341551.1:n.-1056_-1055delinsTT
NM_001354623.2:c.-965_-964delinsTT NP_001341552.1:n.-965_-964delinsTT
NM_001354624.2:c.-726_-725delinsTT NP_001341553.1:n.-726_-725delinsTT
NM_001354625.2:c.-624_-623delinsTT NP_001341554.1:n.-624_-623delinsTT
NM_001354626.2:c.-721_-720delinsTT NP_001341555.1:n.-721_-720delinsTT
NM_001354627.2:c.-953_-952delinsTT NP_001341556.1:n.-953_-952delinsTT
NM_001354628.2:c.101_102delinsTT NP_001341557.1:p.Glu34Val
NM_001354629.2:c.101_102delinsTT NP_001341558.1:p.Glu34Val
NM_001354630.2:c.101_102delinsTT NP_001341559.1:p.Glu34Val
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