Canonical Allele Identifier: CA916079910
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 848510
ClinVar RCV Id: RCV001052281
dbSNP Id: rs2080898853
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993615_36993619delinsCTA , CM000665.2:g.36993615_36993619delinsCTA GRCh38
NC_000003.11:g.37035106_37035110delinsCTA , CM000665.1:g.37035106_37035110delinsCTA GRCh37
NC_000003.10:g.37010110_37010114delinsCTA NCBI36
NG_007109.2:g.5266_5270delinsCTA , LRG_216:g.5266_5270delinsCTA
NG_008418.1:g.4686_4690delinsTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.68_72delinsCTA ENSP00000416476.2:p.Glu23AlafsTer7
ENST00000450420.6:c.68_72delinsCTA ENSP00000393006.2:p.Glu23AlafsTer7
ENST00000456676.7:c.68_72delinsCTA ENSP00000416687.3:p.Glu23AlafsTer7
ENST00000458009.6:c.68_72delinsCTA ENSP00000411066.2:p.Glu23AlafsTer7
ENST00000616768.6:c.68_72delinsCTA ENSP00000480669.3:p.Glu23AlafsTer7
ENST00000673673.2:c.68_72delinsCTA ENSP00000500979.2:p.Glu23AlafsTer7
ENST00000231790.8:c.68_72delinsCTA MANE Select ENSP00000231790.3:p.Glu23AlafsTer7
ENST00000432299.6:c.68_72delinsCTA ENSP00000416783.1:p.Glu23AlafsTer7
ENST00000442249.6:n.83_87delinsCTA
ENST00000673673.1:c.21_25delinsCTA
ENST00000673713.1:n.99_103delinsCTA
ENST00000673715.1:c.68_72delinsCTA ENSP00000501301.1:p.Glu23AlafsTer7
ENST00000673897.1:c.68_72delinsCTA ENSP00000501109.1:p.Glu23AlafsTer7
ENST00000673899.1:c.68_72delinsCTA ENSP00000501030.1:p.Glu23AlafsTer7
ENST00000673947.1:c.68_72delinsCTA ENSP00000501304.1:p.Glu23AlafsTer7
ENST00000673972.1:c.68_72delinsCTA ENSP00000501281.1:p.Glu23AlafsTer7
ENST00000674111.1:c.68_72delinsCTA ENSP00000501162.1:p.Glu23AlafsTer7
ENST00000231790.6:c.68_72delinsCTA ENSP00000231790.2:p.Glu23AlafsTer7
ENST00000432299.5:c.68_72delinsCTA ENSP00000416783.1:p.Glu23AlafsTer7
ENST00000442249.5:c.68_72delinsCTA ENSP00000387511.1:p.Glu23AlafsTer7
ENST00000454028.5:c.68_72delinsCTA ENSP00000392649.1:p.Glu23AlafsTer7
ENST00000456676.6:c.43_47delinsCTA
ENST00000457004.5:c.68_72delinsCTA ENSP00000407773.1:p.Glu23AlafsTer7
ENST00000536378.5:c.-565_-561delinsCTA ENSP00000444286.2:n.-565_-561delinsCTA
NM_000249.3:c.68_72delinsCTA , LRG_216t1:c.68_72delinsCTA NP_000240.1:p.Glu23AlafsTer7
NM_001258271.1:c.68_72delinsCTA NP_001245200.1:p.Glu23AlafsTer7
NM_001258273.1:c.-565_-561delinsCTA NP_001245202.1:n.-565_-561delinsCTA
XM_005265161.1:c.68_72delinsCTA XP_005265218.1:p.Glu23AlafsTer7
XM_005265164.1:c.-651_-647delinsCTA XP_005265221.1:n.-651_-647delinsCTA
NM_001167617.2:c.-449_-445delinsCTA NP_001161089.1:n.-449_-445delinsCTA
NM_001167618.2:c.-878_-874delinsCTA NP_001161090.1:n.-878_-874delinsCTA
NM_001167619.2:c.-791_-787delinsCTA NP_001161091.1:n.-791_-787delinsCTA
NM_001258274.2:c.-1028_-1024delinsCTA NP_001245203.1:n.-1028_-1024delinsCTA
NM_001354615.1:c.-559_-555delinsCTA NP_001341544.1:n.-559_-555delinsCTA
NM_001354616.1:c.-559_-555delinsCTA NP_001341545.1:n.-559_-555delinsCTA
NM_001354617.1:c.-651_-647delinsCTA NP_001341546.1:n.-651_-647delinsCTA
NM_001354618.1:c.-883_-879delinsCTA NP_001341547.1:n.-883_-879delinsCTA
NM_001354619.1:c.-1007_-1003delinsCTA NP_001341548.1:n.-1007_-1003delinsCTA
NM_001354620.1:c.-217_-213delinsCTA NP_001341549.1:n.-217_-213delinsCTA
NM_001354621.1:c.-976_-972delinsCTA NP_001341550.1:n.-976_-972delinsCTA
NM_001354622.1:c.-1089_-1085delinsCTA NP_001341551.1:n.-1089_-1085delinsCTA
NM_001354623.1:c.-998_-994delinsCTA NP_001341552.1:n.-998_-994delinsCTA
NM_001354624.1:c.-759_-755delinsCTA NP_001341553.1:n.-759_-755delinsCTA
NM_001354625.1:c.-657_-653delinsCTA NP_001341554.1:n.-657_-653delinsCTA
NM_001354626.1:c.-754_-750delinsCTA NP_001341555.1:n.-754_-750delinsCTA
NM_001354627.1:c.-986_-982delinsCTA NP_001341556.1:n.-986_-982delinsCTA
NM_001354628.1:c.68_72delinsCTA NP_001341557.1:p.Glu23AlafsTer7
NM_001354629.1:c.68_72delinsCTA NP_001341558.1:p.Glu23AlafsTer7
NM_001354630.1:c.68_72delinsCTA NP_001341559.1:p.Glu23AlafsTer7
XM_005265161.2:c.68_72delinsCTA XP_005265218.1:p.Glu23AlafsTer7
XM_017006450.2:c.-744_-740delinsCTA XP_016861939.1:n.-744_-740delinsCTA
NM_000249.4:c.68_72delinsCTA MANE Select NP_000240.1:p.Glu23AlafsTer7
NM_001167617.3:c.-449_-445delinsCTA NP_001161089.1:n.-449_-445delinsCTA
NM_001167618.3:c.-878_-874delinsCTA NP_001161090.1:n.-878_-874delinsCTA
NM_001167619.3:c.-791_-787delinsCTA NP_001161091.1:n.-791_-787delinsCTA
NM_001258271.2:c.68_72delinsCTA NP_001245200.1:p.Glu23AlafsTer7
NM_001258273.2:c.-565_-561delinsCTA NP_001245202.1:n.-565_-561delinsCTA
NM_001258274.3:c.-1028_-1024delinsCTA NP_001245203.1:n.-1028_-1024delinsCTA
NM_001354615.2:c.-559_-555delinsCTA NP_001341544.1:n.-559_-555delinsCTA
NM_001354616.2:c.-559_-555delinsCTA NP_001341545.1:n.-559_-555delinsCTA
NM_001354617.2:c.-651_-647delinsCTA NP_001341546.1:n.-651_-647delinsCTA
NM_001354618.2:c.-883_-879delinsCTA NP_001341547.1:n.-883_-879delinsCTA
NM_001354619.2:c.-1007_-1003delinsCTA NP_001341548.1:n.-1007_-1003delinsCTA
NM_001354620.2:c.-217_-213delinsCTA NP_001341549.1:n.-217_-213delinsCTA
NM_001354621.2:c.-976_-972delinsCTA NP_001341550.1:n.-976_-972delinsCTA
NM_001354622.2:c.-1089_-1085delinsCTA NP_001341551.1:n.-1089_-1085delinsCTA
NM_001354623.2:c.-998_-994delinsCTA NP_001341552.1:n.-998_-994delinsCTA
NM_001354624.2:c.-759_-755delinsCTA NP_001341553.1:n.-759_-755delinsCTA
NM_001354625.2:c.-657_-653delinsCTA NP_001341554.1:n.-657_-653delinsCTA
NM_001354626.2:c.-754_-750delinsCTA NP_001341555.1:n.-754_-750delinsCTA
NM_001354627.2:c.-986_-982delinsCTA NP_001341556.1:n.-986_-982delinsCTA
NM_001354628.2:c.68_72delinsCTA NP_001341557.1:p.Glu23AlafsTer7
NM_001354629.2:c.68_72delinsCTA NP_001341558.1:p.Glu23AlafsTer7
NM_001354630.2:c.68_72delinsCTA NP_001341559.1:p.Glu23AlafsTer7
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