Canonical Allele Identifier: CA009014

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90083
• ClinVar RCV Id: RCV000075569 ; RCV000164558 ; RCV000202306 ; RCV000524280
• dbSNP Id: rs267607898
• MyVariant Identifiers: chr3:g.37092052_37092055del (hg19) ; chr3:g.37092050_37092053del (hg19) ; chr3:g.37050561_37050564del (hg38) ; chr3:g.37050559_37050562del (hg38)
• PubMed: PMID:8128251 ; PMID:8630936 ; PMID:9697702 ; PMID:12810663 ; PMID:16338176 ; PMID:24204293 ; PMID:24362816 ; PMID:28514183

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050561_37050564del , CM000665.2:g.37050561_37050564del	GRCh38
NC_000003.11:g.37092052_37092055del , CM000665.1:g.37092052_37092055del	GRCh37
NC_000003.10:g.37067056_37067059del	NCBI36
NG_007109.2:g.62212_62215del , LRG_216:g.62212_62215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1743_1746del	ENSP00000416476.2:p.Thr582SerfsTer4
ENST00000429117.6:c.1885_1888del	ENSP00000407019.2:p.His629PhefsTer?
ENST00000456676.7:c.1972_1975del	ENSP00000416687.3:p.His658PhefsTer?
ENST00000492474.6:c.1456_1459del	ENSP00000518393.1:p.His486PhefsTer?
ENST00000616768.6:c.2086_2089del	ENSP00000480669.3:p.His696PhefsTer?
ENST00000673673.2:c.2014_2017del	ENSP00000500979.2:p.His672PhefsTer?
ENST00000231790.8:c.2179_2182del MANE Select	ENSP00000231790.3:p.His727PhefsTer?
ENST00000413212.2:c.*1097_*1100del	ENSP00000400844.2:n.*1097_*1100del
ENST00000432299.6:c.*2011_*2014del	ENSP00000416783.1:n.*2011_*2014del
ENST00000447829.6:c.*1290_*1293del	ENSP00000399329.2:n.*1290_*1293del
ENST00000539477.6:c.1456_1459del	ENSP00000443665.1:p.His486PhefsTer?
ENST00000616768.5:c.1123_1126del	ENSP00000480669.2:p.His375PhefsTer?
ENST00000673673.1:c.1967_1970del
ENST00000673741.1:n.1213_1216del
ENST00000673889.1:n.1561_1564del
ENST00000673897.1:c.*1971_*1974del	ENSP00000501109.1:n.*1971_*1974del
ENST00000673899.1:c.1447_1450del	ENSP00000501030.1:p.His483PhefsTer?
ENST00000673947.1:c.*2319_*2322del	ENSP00000501304.1:n.*2319_*2322del
ENST00000673972.1:c.*2057_*2060del	ENSP00000501281.1:n.*2057_*2060del
ENST00000674019.1:c.1456_1459del	ENSP00000501081.1:p.His486PhefsTer?
ENST00000674111.1:c.*408_*411del	ENSP00000501162.1:n.*408_*411del
ENST00000674125.1:n.890_893del
ENST00000231790.6:c.2179_2182del	ENSP00000231790.2:p.His727PhefsTer?
ENST00000435176.5:c.1885_1888del	ENSP00000402564.1:p.His629PhefsTer?
ENST00000455445.6:c.1456_1459del	ENSP00000398272.2:p.His486PhefsTer?
ENST00000456676.6:c.1947_1950del
ENST00000458205.6:c.1456_1459del	ENSP00000402667.2:p.His486PhefsTer?
ENST00000536378.5:c.1456_1459del	ENSP00000444286.2:p.His486PhefsTer?
ENST00000539477.5:c.1456_1459del	ENSP00000443665.1:p.His486PhefsTer?
NM_000249.3:c.2179_2182del , LRG_216t1:c.2179_2182del	NP_000240.1:p.His727PhefsTer?
NM_001167617.1:c.1885_1888del	NP_001161089.1:p.His629PhefsTer?
NM_001167618.1:c.1456_1459del	NP_001161090.1:p.His486PhefsTer?
NM_001167619.1:c.1456_1459del	NP_001161091.1:p.His486PhefsTer?
NM_001258271.1:c.1972_1975del	NP_001245200.1:p.His658PhefsTer?
NM_001258273.1:c.1456_1459del	NP_001245202.1:p.His486PhefsTer?
NM_001258274.1:c.1456_1459del	NP_001245203.1:p.His486PhefsTer?
XM_005265161.1:c.1972_1975del	XP_005265218.1:p.His658PhefsTer?
XM_005265163.1:c.1456_1459del	XP_005265220.1:p.His486PhefsTer?
XM_005265164.1:c.1456_1459del	XP_005265221.1:p.His486PhefsTer?
XM_005265166.1:c.1156_1159del	XP_005265223.1:p.His386PhefsTer?
XM_011533727.1:c.1105_1108del	XP_011532029.1:p.His369PhefsTer?
NM_001167617.2:c.1885_1888del	NP_001161089.1:p.His629PhefsTer?
NM_001167618.2:c.1456_1459del	NP_001161090.1:p.His486PhefsTer?
NM_001167619.2:c.1456_1459del	NP_001161091.1:p.His486PhefsTer?
NM_001258274.2:c.1456_1459del	NP_001245203.1:p.His486PhefsTer?
NM_001354615.1:c.1456_1459del	NP_001341544.1:p.His486PhefsTer?
NM_001354616.1:c.1456_1459del	NP_001341545.1:p.His486PhefsTer?
NM_001354617.1:c.1456_1459del	NP_001341546.1:p.His486PhefsTer?
NM_001354618.1:c.1456_1459del	NP_001341547.1:p.His486PhefsTer?
NM_001354619.1:c.1456_1459del	NP_001341548.1:p.His486PhefsTer?
NM_001354620.1:c.1885_1888del	NP_001341549.1:p.His629PhefsTer?
NM_001354621.1:c.1156_1159del	NP_001341550.1:p.His386PhefsTer?
NM_001354622.1:c.1156_1159del	NP_001341551.1:p.His386PhefsTer?
NM_001354623.1:c.1156_1159del	NP_001341552.1:p.His386PhefsTer?
NM_001354624.1:c.1105_1108del	NP_001341553.1:p.His369PhefsTer?
NM_001354625.1:c.1105_1108del	NP_001341554.1:p.His369PhefsTer?
NM_001354626.1:c.1105_1108del	NP_001341555.1:p.His369PhefsTer?
NM_001354627.1:c.1105_1108del	NP_001341556.1:p.His369PhefsTer?
NM_001354628.1:c.2086_2089del	NP_001341557.1:p.His696PhefsTer?
NM_001354629.1:c.2080_2083del	NP_001341558.1:p.His694PhefsTer?
NM_001354630.1:c.2014_2017del	NP_001341559.1:p.His672PhefsTer?
XM_005265161.2:c.1972_1975del	XP_005265218.1:p.His658PhefsTer?
XM_017006450.2:c.1156_1159del	XP_016861939.1:p.His386PhefsTer?
NM_000249.4:c.2179_2182del MANE Select	NP_000240.1:p.His727PhefsTer?
NM_001167617.3:c.1885_1888del	NP_001161089.1:p.His629PhefsTer?
NM_001167618.3:c.1456_1459del	NP_001161090.1:p.His486PhefsTer?
NM_001167619.3:c.1456_1459del	NP_001161091.1:p.His486PhefsTer?
NM_001258271.2:c.1972_1975del	NP_001245200.1:p.His658PhefsTer?
NM_001258273.2:c.1456_1459del	NP_001245202.1:p.His486PhefsTer?
NM_001258274.3:c.1456_1459del	NP_001245203.1:p.His486PhefsTer?
NM_001354615.2:c.1456_1459del	NP_001341544.1:p.His486PhefsTer?
NM_001354616.2:c.1456_1459del	NP_001341545.1:p.His486PhefsTer?
NM_001354617.2:c.1456_1459del	NP_001341546.1:p.His486PhefsTer?
NM_001354618.2:c.1456_1459del	NP_001341547.1:p.His486PhefsTer?
NM_001354619.2:c.1456_1459del	NP_001341548.1:p.His486PhefsTer?
NM_001354620.2:c.1885_1888del	NP_001341549.1:p.His629PhefsTer?
NM_001354621.2:c.1156_1159del	NP_001341550.1:p.His386PhefsTer?
NM_001354622.2:c.1156_1159del	NP_001341551.1:p.His386PhefsTer?
NM_001354623.2:c.1156_1159del	NP_001341552.1:p.His386PhefsTer?
NM_001354624.2:c.1105_1108del	NP_001341553.1:p.His369PhefsTer?
NM_001354625.2:c.1105_1108del	NP_001341554.1:p.His369PhefsTer?
NM_001354626.2:c.1105_1108del	NP_001341555.1:p.His369PhefsTer?
NM_001354627.2:c.1105_1108del	NP_001341556.1:p.His369PhefsTer?
NM_001354628.2:c.2086_2089del	NP_001341557.1:p.His696PhefsTer?
NM_001354629.2:c.2080_2083del	NP_001341558.1:p.His694PhefsTer?
NM_001354630.2:c.2014_2017del	NP_001341559.1:p.His672PhefsTer?