Canonical Allele Identifier: CA009035

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90084
• ClinVar RCV Id: RCV000075570 ; RCV000569577 ; RCV001233676
• dbSNP Id: rs267607898
• MyVariant Identifiers: chr3:g.37092054_37092055del (hg19) ; chr3:g.37050563_37050564del (hg38)
• PubMed: PMID:8971183

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050563_37050564del , CM000665.2:g.37050563_37050564del	GRCh38
NC_000003.11:g.37092054_37092055del , CM000665.1:g.37092054_37092055del	GRCh37
NC_000003.10:g.37067058_37067059del	NCBI36
NG_007109.2:g.62214_62215del , LRG_216:g.62214_62215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1745_1746del	ENSP00000416476.2:p.Thr582IlefsTer30
ENST00000429117.6:c.1887_1888del	ENSP00000407019.2:p.Ile630SerfsTer4
ENST00000456676.7:c.1974_1975del	ENSP00000416687.3:p.Ile659SerfsTer4
ENST00000492474.6:c.1458_1459del	ENSP00000518393.1:p.Ile487SerfsTer4
ENST00000616768.6:c.2088_2089del	ENSP00000480669.3:p.Ile697SerfsTer4
ENST00000673673.2:c.2016_2017del	ENSP00000500979.2:p.Ile673SerfsTer4
ENST00000231790.8:c.2181_2182del MANE Select	ENSP00000231790.3:p.Ile728SerfsTer4
ENST00000413212.2:c.*1099_*1100del	ENSP00000400844.2:n.*1099_*1100del
ENST00000432299.6:c.*2013_*2014del	ENSP00000416783.1:n.*2013_*2014del
ENST00000447829.6:c.*1292_*1293del	ENSP00000399329.2:n.*1292_*1293del
ENST00000539477.6:c.1458_1459del	ENSP00000443665.1:p.Ile487SerfsTer4
ENST00000616768.5:c.1125_1126del	ENSP00000480669.2:p.Ile376SerfsTer4
ENST00000673673.1:c.1969_1970del
ENST00000673741.1:n.1215_1216del
ENST00000673889.1:n.1563_1564del
ENST00000673897.1:c.*1973_*1974del	ENSP00000501109.1:n.*1973_*1974del
ENST00000673899.1:c.1449_1450del	ENSP00000501030.1:p.Ile484SerfsTer4
ENST00000673947.1:c.*2321_*2322del	ENSP00000501304.1:n.*2321_*2322del
ENST00000673972.1:c.*2059_*2060del	ENSP00000501281.1:n.*2059_*2060del
ENST00000674019.1:c.1458_1459del	ENSP00000501081.1:p.Ile487SerfsTer4
ENST00000674111.1:c.*410_*411del	ENSP00000501162.1:n.*410_*411del
ENST00000674125.1:n.892_893del
ENST00000231790.6:c.2181_2182del	ENSP00000231790.2:p.Ile728SerfsTer4
ENST00000435176.5:c.1887_1888del	ENSP00000402564.1:p.Ile630SerfsTer4
ENST00000455445.6:c.1458_1459del	ENSP00000398272.2:p.Ile487SerfsTer4
ENST00000456676.6:c.1949_1950del
ENST00000458205.6:c.1458_1459del	ENSP00000402667.2:p.Ile487SerfsTer4
ENST00000536378.5:c.1458_1459del	ENSP00000444286.2:p.Ile487SerfsTer4
ENST00000539477.5:c.1458_1459del	ENSP00000443665.1:p.Ile487SerfsTer4
NM_000249.3:c.2181_2182del , LRG_216t1:c.2181_2182del	NP_000240.1:p.Ile728SerfsTer4
NM_001167617.1:c.1887_1888del	NP_001161089.1:p.Ile630SerfsTer4
NM_001167618.1:c.1458_1459del	NP_001161090.1:p.Ile487SerfsTer4
NM_001167619.1:c.1458_1459del	NP_001161091.1:p.Ile487SerfsTer4
NM_001258271.1:c.1974_1975del	NP_001245200.1:p.Ile659SerfsTer4
NM_001258273.1:c.1458_1459del	NP_001245202.1:p.Ile487SerfsTer4
NM_001258274.1:c.1458_1459del	NP_001245203.1:p.Ile487SerfsTer4
XM_005265161.1:c.1974_1975del	XP_005265218.1:p.Ile659SerfsTer4
XM_005265163.1:c.1458_1459del	XP_005265220.1:p.Ile487SerfsTer4
XM_005265164.1:c.1458_1459del	XP_005265221.1:p.Ile487SerfsTer4
XM_005265166.1:c.1158_1159del	XP_005265223.1:p.Ile387SerfsTer4
XM_011533727.1:c.1107_1108del	XP_011532029.1:p.Ile370SerfsTer4
NM_001167617.2:c.1887_1888del	NP_001161089.1:p.Ile630SerfsTer4
NM_001167618.2:c.1458_1459del	NP_001161090.1:p.Ile487SerfsTer4
NM_001167619.2:c.1458_1459del	NP_001161091.1:p.Ile487SerfsTer4
NM_001258274.2:c.1458_1459del	NP_001245203.1:p.Ile487SerfsTer4
NM_001354615.1:c.1458_1459del	NP_001341544.1:p.Ile487SerfsTer4
NM_001354616.1:c.1458_1459del	NP_001341545.1:p.Ile487SerfsTer4
NM_001354617.1:c.1458_1459del	NP_001341546.1:p.Ile487SerfsTer4
NM_001354618.1:c.1458_1459del	NP_001341547.1:p.Ile487SerfsTer4
NM_001354619.1:c.1458_1459del	NP_001341548.1:p.Ile487SerfsTer4
NM_001354620.1:c.1887_1888del	NP_001341549.1:p.Ile630SerfsTer4
NM_001354621.1:c.1158_1159del	NP_001341550.1:p.Ile387SerfsTer4
NM_001354622.1:c.1158_1159del	NP_001341551.1:p.Ile387SerfsTer4
NM_001354623.1:c.1158_1159del	NP_001341552.1:p.Ile387SerfsTer4
NM_001354624.1:c.1107_1108del	NP_001341553.1:p.Ile370SerfsTer4
NM_001354625.1:c.1107_1108del	NP_001341554.1:p.Ile370SerfsTer4
NM_001354626.1:c.1107_1108del	NP_001341555.1:p.Ile370SerfsTer4
NM_001354627.1:c.1107_1108del	NP_001341556.1:p.Ile370SerfsTer4
NM_001354628.1:c.2088_2089del	NP_001341557.1:p.Ile697SerfsTer4
NM_001354629.1:c.2082_2083del	NP_001341558.1:p.Ile695SerfsTer4
NM_001354630.1:c.2016_2017del	NP_001341559.1:p.Ile673SerfsTer4
XM_005265161.2:c.1974_1975del	XP_005265218.1:p.Ile659SerfsTer4
XM_017006450.2:c.1158_1159del	XP_016861939.1:p.Ile387SerfsTer4
NM_000249.4:c.2181_2182del MANE Select	NP_000240.1:p.Ile728SerfsTer4
NM_001167617.3:c.1887_1888del	NP_001161089.1:p.Ile630SerfsTer4
NM_001167618.3:c.1458_1459del	NP_001161090.1:p.Ile487SerfsTer4
NM_001167619.3:c.1458_1459del	NP_001161091.1:p.Ile487SerfsTer4
NM_001258271.2:c.1974_1975del	NP_001245200.1:p.Ile659SerfsTer4
NM_001258273.2:c.1458_1459del	NP_001245202.1:p.Ile487SerfsTer4
NM_001258274.3:c.1458_1459del	NP_001245203.1:p.Ile487SerfsTer4
NM_001354615.2:c.1458_1459del	NP_001341544.1:p.Ile487SerfsTer4
NM_001354616.2:c.1458_1459del	NP_001341545.1:p.Ile487SerfsTer4
NM_001354617.2:c.1458_1459del	NP_001341546.1:p.Ile487SerfsTer4
NM_001354618.2:c.1458_1459del	NP_001341547.1:p.Ile487SerfsTer4
NM_001354619.2:c.1458_1459del	NP_001341548.1:p.Ile487SerfsTer4
NM_001354620.2:c.1887_1888del	NP_001341549.1:p.Ile630SerfsTer4
NM_001354621.2:c.1158_1159del	NP_001341550.1:p.Ile387SerfsTer4
NM_001354622.2:c.1158_1159del	NP_001341551.1:p.Ile387SerfsTer4
NM_001354623.2:c.1158_1159del	NP_001341552.1:p.Ile387SerfsTer4
NM_001354624.2:c.1107_1108del	NP_001341553.1:p.Ile370SerfsTer4
NM_001354625.2:c.1107_1108del	NP_001341554.1:p.Ile370SerfsTer4
NM_001354626.2:c.1107_1108del	NP_001341555.1:p.Ile370SerfsTer4
NM_001354627.2:c.1107_1108del	NP_001341556.1:p.Ile370SerfsTer4
NM_001354628.2:c.2088_2089del	NP_001341557.1:p.Ile697SerfsTer4
NM_001354629.2:c.2082_2083del	NP_001341558.1:p.Ile695SerfsTer4
NM_001354630.2:c.2016_2017del	NP_001341559.1:p.Ile673SerfsTer4