Canonical Allele Identifier: CA010802

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90256
• ClinVar RCV Id: RCV000075745
• dbSNP Id: rs63750903
• MyVariant Identifiers: chr3:g.37050382_37050383delinsCT (hg19) ; chr3:g.37008891_37008892delinsCT (hg38)
• PubMed: PMID:15926618 ; PMID:16206289

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37008891_37008892delinsCT , CM000665.2:g.37008891_37008892delinsCT	GRCh38
NC_000003.11:g.37050382_37050383delinsCT , CM000665.1:g.37050382_37050383delinsCT	GRCh37
NC_000003.10:g.37025386_37025387delinsCT	NCBI36
NG_007109.2:g.20542_20543delinsCT , LRG_216:g.20542_20543delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.531_532delinsCT	ENSP00000416476.2:p.Leu177PhefsTer2
ENST00000429117.6:c.237_238delinsCT	ENSP00000407019.2:p.Leu79PhefsTer2
ENST00000450420.6:c.531_532delinsCT	ENSP00000393006.2:p.Leu177PhefsTer2
ENST00000456676.7:c.531_532delinsCT	ENSP00000416687.3:p.Leu177PhefsTer2
ENST00000458009.6:c.531_532delinsCT	ENSP00000411066.2:p.Leu177PhefsTer2
ENST00000492474.6:c.-193_-192delinsCT	ENSP00000518393.1:n.-193_-192delinsCT
ENST00000616768.6:c.531_532delinsCT	ENSP00000480669.3:p.Leu177PhefsTer2
ENST00000673673.2:c.531_532delinsCT	ENSP00000500979.2:p.Leu177PhefsTer2
ENST00000231790.8:c.531_532delinsCT MANE Select	ENSP00000231790.3:p.Leu177PhefsTer2
ENST00000413212.2:c.-193_-192delinsCT	ENSP00000400844.2:n.-193_-192delinsCT
ENST00000432299.6:c.*611_*612delinsCT	ENSP00000416783.1:n.*611_*612delinsCT
ENST00000441265.6:c.-193_-192delinsCT	ENSP00000398392.2:n.-193_-192delinsCT
ENST00000442249.6:n.546_547delinsCT
ENST00000447829.6:c.168_169delinsCT	ENSP00000399329.2:p.Leu56PhefsTer2
ENST00000539477.6:c.-179+1828_-179+1829delinsCT	ENSP00000443665.1:n.-179+1828_-179+1829de...
ENST00000673673.1:c.484_485delinsCT
ENST00000673713.1:n.562_563delinsCT
ENST00000673715.1:c.531_532delinsCT	ENSP00000501301.1:p.Leu177PhefsTer2
ENST00000673897.1:c.*323_*324delinsCT	ENSP00000501109.1:n.*323_*324delinsCT
ENST00000673899.1:c.531_532delinsCT	ENSP00000501030.1:p.Leu177PhefsTer2
ENST00000673947.1:c.*671_*672delinsCT	ENSP00000501304.1:n.*671_*672delinsCT
ENST00000673972.1:c.*409_*410delinsCT	ENSP00000501281.1:n.*409_*410delinsCT
ENST00000673990.1:n.516_517delinsCT
ENST00000674019.1:c.-193_-192delinsCT	ENSP00000501081.1:n.-193_-192delinsCT
ENST00000674107.1:n.473_474delinsCT
ENST00000674111.1:c.531_532delinsCT	ENSP00000501162.1:p.Leu177PhefsTer2
ENST00000231790.6:c.531_532delinsCT	ENSP00000231790.2:p.Leu177PhefsTer2
ENST00000429117.5:c.237_238delinsCT	ENSP00000407019.1:p.Leu79PhefsTer2
ENST00000432299.5:c.*611_*612delinsCT	ENSP00000416783.1:n.*611_*612delinsCT
ENST00000435176.5:c.237_238delinsCT	ENSP00000402564.1:p.Leu79PhefsTer2
ENST00000441265.5:c.-179+1828_-179+1829delinsCT	ENSP00000398392.1:n.-179+1828_-179+1829de...
ENST00000442249.5:c.*323_*324delinsCT	ENSP00000387511.1:n.*323_*324delinsCT
ENST00000454028.5:c.*404_*405delinsCT	ENSP00000392649.1:n.*404_*405delinsCT
ENST00000455445.6:c.-193_-192delinsCT	ENSP00000398272.2:n.-193_-192delinsCT
ENST00000456676.6:c.506_507delinsCT
ENST00000457004.5:c.*310_*311delinsCT	ENSP00000407773.1:n.*310_*311delinsCT
ENST00000458205.6:c.-193_-192delinsCT	ENSP00000402667.2:n.-193_-192delinsCT
ENST00000485889.1:n.535_536delinsCT
ENST00000492474.5:n.554_555delinsCT
ENST00000536378.5:c.-193_-192delinsCT	ENSP00000444286.2:n.-193_-192delinsCT
ENST00000539477.5:c.-179+1828_-179+1829delinsCT	ENSP00000443665.1:n.-179+1828_-179+1829de...
NM_000249.3:c.531_532delinsCT , LRG_216t1:c.531_532delinsCT	NP_000240.1:p.Leu177PhefsTer2
NM_001167617.1:c.237_238delinsCT	NP_001161089.1:p.Leu79PhefsTer2
NM_001167618.1:c.-193_-192delinsCT	NP_001161090.1:n.-193_-192delinsCT
NM_001167619.1:c.-179+1828_-179+1829delinsCT	NP_001161091.1:n.-179+1828_-179+1829delin...
NM_001258271.1:c.531_532delinsCT	NP_001245200.1:p.Leu177PhefsTer2
NM_001258273.1:c.-193_-192delinsCT	NP_001245202.1:n.-193_-192delinsCT
NM_001258274.1:c.-193_-192delinsCT	NP_001245203.1:n.-193_-192delinsCT
XM_005265161.1:c.531_532delinsCT	XP_005265218.1:p.Leu177PhefsTer2
XM_005265163.1:c.-193_-192delinsCT	XP_005265220.1:n.-193_-192delinsCT
XM_005265164.1:c.-193_-192delinsCT	XP_005265221.1:n.-193_-192delinsCT
XM_005265166.1:c.-399_-398delinsCT	XP_005265223.1:n.-399_-398delinsCT
XM_011533727.1:c.-296_-295delinsCT	XP_011532029.1:n.-296_-295delinsCT
NM_001167617.2:c.237_238delinsCT	NP_001161089.1:p.Leu79PhefsTer2
NM_001167618.2:c.-193_-192delinsCT	NP_001161090.1:n.-193_-192delinsCT
NM_001167619.2:c.-179+1828_-179+1829delinsCT	NP_001161091.1:n.-179+1828_-179+1829delin...
NM_001258274.2:c.-193_-192delinsCT	NP_001245203.1:n.-193_-192delinsCT
NM_001354615.1:c.-179+1828_-179+1829delinsCT	NP_001341544.1:n.-179+1828_-179+1829delin...
NM_001354616.1:c.-179+1828_-179+1829delinsCT	NP_001341545.1:n.-179+1828_-179+1829delin...
NM_001354617.1:c.-193_-192delinsCT	NP_001341546.1:n.-193_-192delinsCT
NM_001354618.1:c.-193_-192delinsCT	NP_001341547.1:n.-193_-192delinsCT
NM_001354619.1:c.-193_-192delinsCT	NP_001341548.1:n.-193_-192delinsCT
NM_001354620.1:c.237_238delinsCT	NP_001341549.1:p.Leu79PhefsTer2
NM_001354621.1:c.-286_-285delinsCT	NP_001341550.1:n.-286_-285delinsCT
NM_001354622.1:c.-399_-398delinsCT	NP_001341551.1:n.-399_-398delinsCT
NM_001354623.1:c.-399_-398delinsCT	NP_001341552.1:n.-399_-398delinsCT
NM_001354624.1:c.-296_-295delinsCT	NP_001341553.1:n.-296_-295delinsCT
NM_001354625.1:c.-282+1828_-282+1829delinsCT	NP_001341554.1:n.-282+1828_-282+1829delin...
NM_001354626.1:c.-296_-295delinsCT	NP_001341555.1:n.-296_-295delinsCT
NM_001354627.1:c.-296_-295delinsCT	NP_001341556.1:n.-296_-295delinsCT
NM_001354628.1:c.531_532delinsCT	NP_001341557.1:p.Leu177PhefsTer2
NM_001354629.1:c.432_433delinsCT	NP_001341558.1:p.Leu144PhefsTer2
NM_001354630.1:c.531_532delinsCT	NP_001341559.1:p.Leu177PhefsTer2
XM_005265161.2:c.531_532delinsCT	XP_005265218.1:p.Leu177PhefsTer2
XM_017006450.2:c.-286_-285delinsCT	XP_016861939.1:n.-286_-285delinsCT
NM_000249.4:c.531_532delinsCT MANE Select	NP_000240.1:p.Leu177PhefsTer2
NM_001167617.3:c.237_238delinsCT	NP_001161089.1:p.Leu79PhefsTer2
NM_001167618.3:c.-193_-192delinsCT	NP_001161090.1:n.-193_-192delinsCT
NM_001167619.3:c.-179+1828_-179+1829delinsCT	NP_001161091.1:n.-179+1828_-179+1829delin...
NM_001258271.2:c.531_532delinsCT	NP_001245200.1:p.Leu177PhefsTer2
NM_001258273.2:c.-193_-192delinsCT	NP_001245202.1:n.-193_-192delinsCT
NM_001258274.3:c.-193_-192delinsCT	NP_001245203.1:n.-193_-192delinsCT
NM_001354615.2:c.-179+1828_-179+1829delinsCT	NP_001341544.1:n.-179+1828_-179+1829delin...
NM_001354616.2:c.-179+1828_-179+1829delinsCT	NP_001341545.1:n.-179+1828_-179+1829delin...
NM_001354617.2:c.-193_-192delinsCT	NP_001341546.1:n.-193_-192delinsCT
NM_001354618.2:c.-193_-192delinsCT	NP_001341547.1:n.-193_-192delinsCT
NM_001354619.2:c.-193_-192delinsCT	NP_001341548.1:n.-193_-192delinsCT
NM_001354620.2:c.237_238delinsCT	NP_001341549.1:p.Leu79PhefsTer2
NM_001354621.2:c.-286_-285delinsCT	NP_001341550.1:n.-286_-285delinsCT
NM_001354622.2:c.-399_-398delinsCT	NP_001341551.1:n.-399_-398delinsCT
NM_001354623.2:c.-399_-398delinsCT	NP_001341552.1:n.-399_-398delinsCT
NM_001354624.2:c.-296_-295delinsCT	NP_001341553.1:n.-296_-295delinsCT
NM_001354625.2:c.-282+1828_-282+1829delinsCT	NP_001341554.1:n.-282+1828_-282+1829delin...
NM_001354626.2:c.-296_-295delinsCT	NP_001341555.1:n.-296_-295delinsCT
NM_001354627.2:c.-296_-295delinsCT	NP_001341556.1:n.-296_-295delinsCT
NM_001354628.2:c.531_532delinsCT	NP_001341557.1:p.Leu177PhefsTer2
NM_001354629.2:c.432_433delinsCT	NP_001341558.1:p.Leu144PhefsTer2
NM_001354630.2:c.531_532delinsCT	NP_001341559.1:p.Leu177PhefsTer2