Canonical Allele Identifier: CA009208

Gene: MLH1

Linked Data

• ClinVar Variation Id: 185628
• ClinVar RCV Id: RCV000165077
• dbSNP Id: rs786202326
• MyVariant Identifiers: chr3:g.37092121_37092122del (hg19) ; chr3:g.37050630_37050631del (hg38)
• PubMed: PMID:23435383 ; PMID:26249686

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050630_37050631del , CM000665.2:g.37050630_37050631del	GRCh38
NC_000003.11:g.37092121_37092122del , CM000665.1:g.37092121_37092122del	GRCh37
NC_000003.10:g.37067125_37067126del	NCBI36
NG_007109.2:g.62281_62282del , LRG_216:g.62281_62282del
NG_053016.1:g.131189_131190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1812_1813del	ENSP00000416476.2:p.Thr605LysfsTer7
ENST00000429117.6:c.1954_1955del	ENSP00000407019.2:p.Tyr652GlnfsTer4
ENST00000456676.7:c.2041_2042del	ENSP00000416687.3:p.Tyr681GlnfsTer4
ENST00000492474.6:c.1525_1526del	ENSP00000518393.1:p.Tyr509GlnfsTer4
ENST00000616768.6:c.2155_2156del	ENSP00000480669.3:p.Tyr719GlnfsTer4
ENST00000673673.2:c.2083_2084del	ENSP00000500979.2:p.Tyr695GlnfsTer4
ENST00000231790.8:c.2248_2249del MANE Select	ENSP00000231790.3:p.Tyr750GlnfsTer4
ENST00000413212.2:c.*1166_*1167del	ENSP00000400844.2:n.*1166_*1167del
ENST00000432299.6:c.*2080_*2081del	ENSP00000416783.1:n.*2080_*2081del
ENST00000447829.6:c.*1359_*1360del	ENSP00000399329.2:n.*1359_*1360del
ENST00000539477.6:c.1525_1526del	ENSP00000443665.1:p.Tyr509GlnfsTer4
ENST00000616768.5:c.1192_1193del	ENSP00000480669.2:p.Tyr398GlnfsTer4
ENST00000673673.1:c.2036_2037del
ENST00000673741.1:n.1282_1283del
ENST00000673889.1:n.1630_1631del
ENST00000673897.1:c.*2040_*2041del	ENSP00000501109.1:n.*2040_*2041del
ENST00000673899.1:c.1516_1517del	ENSP00000501030.1:p.Tyr506GlnfsTer4
ENST00000673947.1:c.*2388_*2389del	ENSP00000501304.1:n.*2388_*2389del
ENST00000673972.1:c.*2126_*2127del	ENSP00000501281.1:n.*2126_*2127del
ENST00000674019.1:c.1525_1526del	ENSP00000501081.1:p.Tyr509GlnfsTer4
ENST00000674111.1:c.*477_*478del	ENSP00000501162.1:n.*477_*478del
ENST00000674125.1:n.959_960del
ENST00000231790.6:c.2248_2249del	ENSP00000231790.2:p.Tyr750GlnfsTer4
ENST00000435176.5:c.1954_1955del	ENSP00000402564.1:p.Tyr652GlnfsTer4
ENST00000455445.6:c.1525_1526del	ENSP00000398272.2:p.Tyr509GlnfsTer4
ENST00000456676.6:c.2016_2017del
ENST00000458205.6:c.1525_1526del	ENSP00000402667.2:p.Tyr509GlnfsTer4
ENST00000536378.5:c.1525_1526del	ENSP00000444286.2:p.Tyr509GlnfsTer4
ENST00000539477.5:c.1525_1526del	ENSP00000443665.1:p.Tyr509GlnfsTer4
NM_000249.3:c.2248_2249del , LRG_216t1:c.2248_2249del	NP_000240.1:p.Tyr750GlnfsTer4
NM_001167617.1:c.1954_1955del	NP_001161089.1:p.Tyr652GlnfsTer4
NM_001167618.1:c.1525_1526del	NP_001161090.1:p.Tyr509GlnfsTer4
NM_001167619.1:c.1525_1526del	NP_001161091.1:p.Tyr509GlnfsTer4
NM_001258271.1:c.2041_2042del	NP_001245200.1:p.Tyr681GlnfsTer4
NM_001258273.1:c.1525_1526del	NP_001245202.1:p.Tyr509GlnfsTer4
NM_001258274.1:c.1525_1526del	NP_001245203.1:p.Tyr509GlnfsTer4
XM_005265161.1:c.2041_2042del	XP_005265218.1:p.Tyr681GlnfsTer4
XM_005265163.1:c.1525_1526del	XP_005265220.1:p.Tyr509GlnfsTer4
XM_005265164.1:c.1525_1526del	XP_005265221.1:p.Tyr509GlnfsTer4
XM_005265166.1:c.1225_1226del	XP_005265223.1:p.Tyr409GlnfsTer4
XM_011533727.1:c.1174_1175del	XP_011532029.1:p.Tyr392GlnfsTer4
NM_001167617.2:c.1954_1955del	NP_001161089.1:p.Tyr652GlnfsTer4
NM_001167618.2:c.1525_1526del	NP_001161090.1:p.Tyr509GlnfsTer4
NM_001167619.2:c.1525_1526del	NP_001161091.1:p.Tyr509GlnfsTer4
NM_001258274.2:c.1525_1526del	NP_001245203.1:p.Tyr509GlnfsTer4
NM_001354615.1:c.1525_1526del	NP_001341544.1:p.Tyr509GlnfsTer4
NM_001354616.1:c.1525_1526del	NP_001341545.1:p.Tyr509GlnfsTer4
NM_001354617.1:c.1525_1526del	NP_001341546.1:p.Tyr509GlnfsTer4
NM_001354618.1:c.1525_1526del	NP_001341547.1:p.Tyr509GlnfsTer4
NM_001354619.1:c.1525_1526del	NP_001341548.1:p.Tyr509GlnfsTer4
NM_001354620.1:c.1954_1955del	NP_001341549.1:p.Tyr652GlnfsTer4
NM_001354621.1:c.1225_1226del	NP_001341550.1:p.Tyr409GlnfsTer4
NM_001354622.1:c.1225_1226del	NP_001341551.1:p.Tyr409GlnfsTer4
NM_001354623.1:c.1225_1226del	NP_001341552.1:p.Tyr409GlnfsTer4
NM_001354624.1:c.1174_1175del	NP_001341553.1:p.Tyr392GlnfsTer4
NM_001354625.1:c.1174_1175del	NP_001341554.1:p.Tyr392GlnfsTer4
NM_001354626.1:c.1174_1175del	NP_001341555.1:p.Tyr392GlnfsTer4
NM_001354627.1:c.1174_1175del	NP_001341556.1:p.Tyr392GlnfsTer4
NM_001354628.1:c.2155_2156del	NP_001341557.1:p.Tyr719GlnfsTer4
NM_001354629.1:c.2149_2150del	NP_001341558.1:p.Tyr717GlnfsTer4
NM_001354630.1:c.2083_2084del	NP_001341559.1:p.Tyr695GlnfsTer4
XM_005265161.2:c.2041_2042del	XP_005265218.1:p.Tyr681GlnfsTer4
XM_017006450.2:c.1225_1226del	XP_016861939.1:p.Tyr409GlnfsTer4
NM_000249.4:c.2248_2249del MANE Select	NP_000240.1:p.Tyr750GlnfsTer4
NM_001167617.3:c.1954_1955del	NP_001161089.1:p.Tyr652GlnfsTer4
NM_001167618.3:c.1525_1526del	NP_001161090.1:p.Tyr509GlnfsTer4
NM_001167619.3:c.1525_1526del	NP_001161091.1:p.Tyr509GlnfsTer4
NM_001258271.2:c.2041_2042del	NP_001245200.1:p.Tyr681GlnfsTer4
NM_001258273.2:c.1525_1526del	NP_001245202.1:p.Tyr509GlnfsTer4
NM_001258274.3:c.1525_1526del	NP_001245203.1:p.Tyr509GlnfsTer4
NM_001354615.2:c.1525_1526del	NP_001341544.1:p.Tyr509GlnfsTer4
NM_001354616.2:c.1525_1526del	NP_001341545.1:p.Tyr509GlnfsTer4
NM_001354617.2:c.1525_1526del	NP_001341546.1:p.Tyr509GlnfsTer4
NM_001354618.2:c.1525_1526del	NP_001341547.1:p.Tyr509GlnfsTer4
NM_001354619.2:c.1525_1526del	NP_001341548.1:p.Tyr509GlnfsTer4
NM_001354620.2:c.1954_1955del	NP_001341549.1:p.Tyr652GlnfsTer4
NM_001354621.2:c.1225_1226del	NP_001341550.1:p.Tyr409GlnfsTer4
NM_001354622.2:c.1225_1226del	NP_001341551.1:p.Tyr409GlnfsTer4
NM_001354623.2:c.1225_1226del	NP_001341552.1:p.Tyr409GlnfsTer4
NM_001354624.2:c.1174_1175del	NP_001341553.1:p.Tyr392GlnfsTer4
NM_001354625.2:c.1174_1175del	NP_001341554.1:p.Tyr392GlnfsTer4
NM_001354626.2:c.1174_1175del	NP_001341555.1:p.Tyr392GlnfsTer4
NM_001354627.2:c.1174_1175del	NP_001341556.1:p.Tyr392GlnfsTer4
NM_001354628.2:c.2155_2156del	NP_001341557.1:p.Tyr719GlnfsTer4
NM_001354629.2:c.2149_2150del	NP_001341558.1:p.Tyr717GlnfsTer4
NM_001354630.2:c.2083_2084del	NP_001341559.1:p.Tyr695GlnfsTer4