Canonical Allele Identifier: CA008993

Gene: MLH1

Linked Data

• ClinVar Variation Id: 187049
• ClinVar RCV Id: RCV000166735 ; RCV000463195 ; RCV000480782 ; RCV001731414
• dbSNP Id: rs786203433
• MyVariant Identifiers: chr3:g.37092045_37092046delinsAG (hg19) ; chr3:g.37050554_37050555delinsAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050554_37050555delinsAG , CM000665.2:g.37050554_37050555delinsAG	GRCh38
NC_000003.11:g.37092045_37092046delinsAG , CM000665.1:g.37092045_37092046delinsAG	GRCh37
NC_000003.10:g.37067049_37067050delinsAG	NCBI36
NG_007109.2:g.62205_62206delinsAG , LRG_216:g.62205_62206delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1736_1737delinsAG	ENSP00000416476.2:p.Cys579Ter
ENST00000429117.6:c.1878_1879delinsAG	ENSP00000407019.2:p.Arg627Gly
ENST00000456676.7:c.1965_1966delinsAG	ENSP00000416687.3:p.Arg656Gly
ENST00000492474.6:c.1449_1450delinsAG	ENSP00000518393.1:p.Arg484Gly
ENST00000616768.6:c.2079_2080delinsAG	ENSP00000480669.3:p.Arg694Gly
ENST00000673673.2:c.2007_2008delinsAG	ENSP00000500979.2:p.Arg670Gly
ENST00000231790.8:c.2172_2173delinsAG MANE Select	ENSP00000231790.3:p.Arg725Gly
ENST00000413212.2:c.*1090_*1091delinsAG	ENSP00000400844.2:n.*1090_*1091delinsAG
ENST00000432299.6:c.*2004_*2005delinsAG	ENSP00000416783.1:n.*2004_*2005delinsAG
ENST00000447829.6:c.*1283_*1284delinsAG	ENSP00000399329.2:n.*1283_*1284delinsAG
ENST00000539477.6:c.1449_1450delinsAG	ENSP00000443665.1:p.Arg484Gly
ENST00000616768.5:c.1116_1117delinsAG	ENSP00000480669.2:p.Arg373Gly
ENST00000673673.1:c.1960_1961delinsAG
ENST00000673741.1:n.1206_1207delinsAG
ENST00000673889.1:n.1554_1555delinsAG
ENST00000673897.1:c.*1964_*1965delinsAG	ENSP00000501109.1:n.*1964_*1965delinsAG
ENST00000673899.1:c.1440_1441delinsAG	ENSP00000501030.1:p.Arg481Gly
ENST00000673947.1:c.*2312_*2313delinsAG	ENSP00000501304.1:n.*2312_*2313delinsAG
ENST00000673972.1:c.*2050_*2051delinsAG	ENSP00000501281.1:n.*2050_*2051delinsAG
ENST00000674019.1:c.1449_1450delinsAG	ENSP00000501081.1:p.Arg484Gly
ENST00000674111.1:c.*401_*402delinsAG	ENSP00000501162.1:n.*401_*402delinsAG
ENST00000674125.1:n.883_884delinsAG
ENST00000231790.6:c.2172_2173delinsAG	ENSP00000231790.2:p.Arg725Gly
ENST00000435176.5:c.1878_1879delinsAG	ENSP00000402564.1:p.Arg627Gly
ENST00000455445.6:c.1449_1450delinsAG	ENSP00000398272.2:p.Arg484Gly
ENST00000456676.6:c.1940_1941delinsAG
ENST00000458205.6:c.1449_1450delinsAG	ENSP00000402667.2:p.Arg484Gly
ENST00000536378.5:c.1449_1450delinsAG	ENSP00000444286.2:p.Arg484Gly
ENST00000539477.5:c.1449_1450delinsAG	ENSP00000443665.1:p.Arg484Gly
NM_000249.3:c.2172_2173delinsAG , LRG_216t1:c.2172_2173delinsAG	NP_000240.1:p.Arg725Gly
NM_001167617.1:c.1878_1879delinsAG	NP_001161089.1:p.Arg627Gly
NM_001167618.1:c.1449_1450delinsAG	NP_001161090.1:p.Arg484Gly
NM_001167619.1:c.1449_1450delinsAG	NP_001161091.1:p.Arg484Gly
NM_001258271.1:c.1965_1966delinsAG	NP_001245200.1:p.Arg656Gly
NM_001258273.1:c.1449_1450delinsAG	NP_001245202.1:p.Arg484Gly
NM_001258274.1:c.1449_1450delinsAG	NP_001245203.1:p.Arg484Gly
XM_005265161.1:c.1965_1966delinsAG	XP_005265218.1:p.Arg656Gly
XM_005265163.1:c.1449_1450delinsAG	XP_005265220.1:p.Arg484Gly
XM_005265164.1:c.1449_1450delinsAG	XP_005265221.1:p.Arg484Gly
XM_005265166.1:c.1149_1150delinsAG	XP_005265223.1:p.Arg384Gly
XM_011533727.1:c.1098_1099delinsAG	XP_011532029.1:p.Arg367Gly
NM_001167617.2:c.1878_1879delinsAG	NP_001161089.1:p.Arg627Gly
NM_001167618.2:c.1449_1450delinsAG	NP_001161090.1:p.Arg484Gly
NM_001167619.2:c.1449_1450delinsAG	NP_001161091.1:p.Arg484Gly
NM_001258274.2:c.1449_1450delinsAG	NP_001245203.1:p.Arg484Gly
NM_001354615.1:c.1449_1450delinsAG	NP_001341544.1:p.Arg484Gly
NM_001354616.1:c.1449_1450delinsAG	NP_001341545.1:p.Arg484Gly
NM_001354617.1:c.1449_1450delinsAG	NP_001341546.1:p.Arg484Gly
NM_001354618.1:c.1449_1450delinsAG	NP_001341547.1:p.Arg484Gly
NM_001354619.1:c.1449_1450delinsAG	NP_001341548.1:p.Arg484Gly
NM_001354620.1:c.1878_1879delinsAG	NP_001341549.1:p.Arg627Gly
NM_001354621.1:c.1149_1150delinsAG	NP_001341550.1:p.Arg384Gly
NM_001354622.1:c.1149_1150delinsAG	NP_001341551.1:p.Arg384Gly
NM_001354623.1:c.1149_1150delinsAG	NP_001341552.1:p.Arg384Gly
NM_001354624.1:c.1098_1099delinsAG	NP_001341553.1:p.Arg367Gly
NM_001354625.1:c.1098_1099delinsAG	NP_001341554.1:p.Arg367Gly
NM_001354626.1:c.1098_1099delinsAG	NP_001341555.1:p.Arg367Gly
NM_001354627.1:c.1098_1099delinsAG	NP_001341556.1:p.Arg367Gly
NM_001354628.1:c.2079_2080delinsAG	NP_001341557.1:p.Arg694Gly
NM_001354629.1:c.2073_2074delinsAG	NP_001341558.1:p.Arg692Gly
NM_001354630.1:c.2007_2008delinsAG	NP_001341559.1:p.Arg670Gly
XM_005265161.2:c.1965_1966delinsAG	XP_005265218.1:p.Arg656Gly
XM_017006450.2:c.1149_1150delinsAG	XP_016861939.1:p.Arg384Gly
NM_000249.4:c.2172_2173delinsAG MANE Select	NP_000240.1:p.Arg725Gly
NM_001167617.3:c.1878_1879delinsAG	NP_001161089.1:p.Arg627Gly
NM_001167618.3:c.1449_1450delinsAG	NP_001161090.1:p.Arg484Gly
NM_001167619.3:c.1449_1450delinsAG	NP_001161091.1:p.Arg484Gly
NM_001258271.2:c.1965_1966delinsAG	NP_001245200.1:p.Arg656Gly
NM_001258273.2:c.1449_1450delinsAG	NP_001245202.1:p.Arg484Gly
NM_001258274.3:c.1449_1450delinsAG	NP_001245203.1:p.Arg484Gly
NM_001354615.2:c.1449_1450delinsAG	NP_001341544.1:p.Arg484Gly
NM_001354616.2:c.1449_1450delinsAG	NP_001341545.1:p.Arg484Gly
NM_001354617.2:c.1449_1450delinsAG	NP_001341546.1:p.Arg484Gly
NM_001354618.2:c.1449_1450delinsAG	NP_001341547.1:p.Arg484Gly
NM_001354619.2:c.1449_1450delinsAG	NP_001341548.1:p.Arg484Gly
NM_001354620.2:c.1878_1879delinsAG	NP_001341549.1:p.Arg627Gly
NM_001354621.2:c.1149_1150delinsAG	NP_001341550.1:p.Arg384Gly
NM_001354622.2:c.1149_1150delinsAG	NP_001341551.1:p.Arg384Gly
NM_001354623.2:c.1149_1150delinsAG	NP_001341552.1:p.Arg384Gly
NM_001354624.2:c.1098_1099delinsAG	NP_001341553.1:p.Arg367Gly
NM_001354625.2:c.1098_1099delinsAG	NP_001341554.1:p.Arg367Gly
NM_001354626.2:c.1098_1099delinsAG	NP_001341555.1:p.Arg367Gly
NM_001354627.2:c.1098_1099delinsAG	NP_001341556.1:p.Arg367Gly
NM_001354628.2:c.2079_2080delinsAG	NP_001341557.1:p.Arg694Gly
NM_001354629.2:c.2073_2074delinsAG	NP_001341558.1:p.Arg692Gly
NM_001354630.2:c.2007_2008delinsAG	NP_001341559.1:p.Arg670Gly