Canonical Allele Identifier: CA645518647

Gene: MLH1

Linked Data

• COSMIC: COSM5506723

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050491dup , CM000665.2:g.37050491dup	GRCh38
NC_000003.11:g.37091982dup , CM000665.1:g.37091982dup	GRCh37
NC_000003.10:g.37066986dup	NCBI36
NG_007109.2:g.62142dup , LRG_216:g.62142dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1673dup	ENSP00000416476.2:p.Cys559ValfsTer?
ENST00000429117.6:c.1815dup	ENSP00000407019.2:p.Val606SerfsTer19
ENST00000450420.6:c.*1dup	ENSP00000393006.2:n.*1dup
ENST00000456676.7:c.1902dup	ENSP00000416687.3:p.Val635SerfsTer19
ENST00000492474.6:c.1386dup	ENSP00000518393.1:p.Val463SerfsTer19
ENST00000616768.6:c.2016dup	ENSP00000480669.3:p.Val673SerfsTer19
ENST00000673673.2:c.1944dup	ENSP00000500979.2:p.Val649SerfsTer19
ENST00000231790.8:c.2109dup MANE Select	ENSP00000231790.3:p.Val704SerfsTer19
ENST00000413212.2:c.*1027dup	ENSP00000400844.2:n.*1027dup
ENST00000432299.6:c.*1941dup	ENSP00000416783.1:n.*1941dup
ENST00000447829.6:c.*1220dup	ENSP00000399329.2:n.*1220dup
ENST00000539477.6:c.1386dup	ENSP00000443665.1:p.Val463SerfsTer19
ENST00000616768.5:c.1053dup	ENSP00000480669.2:p.Val352SerfsTer19
ENST00000673673.1:c.1897dup
ENST00000673741.1:n.1143dup
ENST00000673889.1:n.1491dup
ENST00000673897.1:c.*1901dup	ENSP00000501109.1:n.*1901dup
ENST00000673899.1:c.1377dup	ENSP00000501030.1:p.Val460SerfsTer19
ENST00000673947.1:c.*2249dup	ENSP00000501304.1:n.*2249dup
ENST00000673972.1:c.*1987dup	ENSP00000501281.1:n.*1987dup
ENST00000674019.1:c.1386dup	ENSP00000501081.1:p.Val463SerfsTer19
ENST00000674111.1:c.*338dup	ENSP00000501162.1:n.*338dup
ENST00000674125.1:n.820dup
ENST00000231790.6:c.2109dup	ENSP00000231790.2:p.Val704SerfsTer19
ENST00000413740.1:c.296dup	ENSP00000416476.1:p.Cys100ValfsTer?
ENST00000435176.5:c.1815dup	ENSP00000402564.1:p.Val606SerfsTer19
ENST00000450420.5:c.187dup	ENSP00000393006.1:n.187dup
ENST00000455445.6:c.1386dup	ENSP00000398272.2:p.Val463SerfsTer19
ENST00000456676.6:c.1877dup
ENST00000458205.6:c.1386dup	ENSP00000402667.2:p.Val463SerfsTer19
ENST00000536378.5:c.1386dup	ENSP00000444286.2:p.Val463SerfsTer19
ENST00000539477.5:c.1386dup	ENSP00000443665.1:p.Val463SerfsTer19
NM_000249.3:c.2109dup , LRG_216t1:c.2109dup	NP_000240.1:p.Val704SerfsTer19
NM_001167617.1:c.1815dup	NP_001161089.1:p.Val606SerfsTer19
NM_001167618.1:c.1386dup	NP_001161090.1:p.Val463SerfsTer19
NM_001167619.1:c.1386dup	NP_001161091.1:p.Val463SerfsTer19
NM_001258271.1:c.1902dup	NP_001245200.1:p.Val635SerfsTer19
NM_001258273.1:c.1386dup	NP_001245202.1:p.Val463SerfsTer19
NM_001258274.1:c.1386dup	NP_001245203.1:p.Val463SerfsTer19
XM_005265161.1:c.1902dup	XP_005265218.1:p.Val635SerfsTer19
XM_005265163.1:c.1386dup	XP_005265220.1:p.Val463SerfsTer19
XM_005265164.1:c.1386dup	XP_005265221.1:p.Val463SerfsTer19
XM_005265166.1:c.1086dup	XP_005265223.1:p.Val363SerfsTer19
XM_011533727.1:c.1035dup	XP_011532029.1:p.Val346SerfsTer19
NM_001167617.2:c.1815dup	NP_001161089.1:p.Val606SerfsTer19
NM_001167618.2:c.1386dup	NP_001161090.1:p.Val463SerfsTer19
NM_001167619.2:c.1386dup	NP_001161091.1:p.Val463SerfsTer19
NM_001258274.2:c.1386dup	NP_001245203.1:p.Val463SerfsTer19
NM_001354615.1:c.1386dup	NP_001341544.1:p.Val463SerfsTer19
NM_001354616.1:c.1386dup	NP_001341545.1:p.Val463SerfsTer19
NM_001354617.1:c.1386dup	NP_001341546.1:p.Val463SerfsTer19
NM_001354618.1:c.1386dup	NP_001341547.1:p.Val463SerfsTer19
NM_001354619.1:c.1386dup	NP_001341548.1:p.Val463SerfsTer19
NM_001354620.1:c.1815dup	NP_001341549.1:p.Val606SerfsTer19
NM_001354621.1:c.1086dup	NP_001341550.1:p.Val363SerfsTer19
NM_001354622.1:c.1086dup	NP_001341551.1:p.Val363SerfsTer19
NM_001354623.1:c.1086dup	NP_001341552.1:p.Val363SerfsTer19
NM_001354624.1:c.1035dup	NP_001341553.1:p.Val346SerfsTer19
NM_001354625.1:c.1035dup	NP_001341554.1:p.Val346SerfsTer19
NM_001354626.1:c.1035dup	NP_001341555.1:p.Val346SerfsTer19
NM_001354627.1:c.1035dup	NP_001341556.1:p.Val346SerfsTer19
NM_001354628.1:c.2016dup	NP_001341557.1:p.Val673SerfsTer19
NM_001354629.1:c.2010dup	NP_001341558.1:p.Val671SerfsTer19
NM_001354630.1:c.1944dup	NP_001341559.1:p.Val649SerfsTer19
XM_005265161.2:c.1902dup	XP_005265218.1:p.Val635SerfsTer19
XM_017006450.2:c.1086dup	XP_016861939.1:p.Val363SerfsTer19
NM_000249.4:c.2109dup MANE Select	NP_000240.1:p.Val704SerfsTer19
NM_001167617.3:c.1815dup	NP_001161089.1:p.Val606SerfsTer19
NM_001167618.3:c.1386dup	NP_001161090.1:p.Val463SerfsTer19
NM_001167619.3:c.1386dup	NP_001161091.1:p.Val463SerfsTer19
NM_001258271.2:c.1902dup	NP_001245200.1:p.Val635SerfsTer19
NM_001258273.2:c.1386dup	NP_001245202.1:p.Val463SerfsTer19
NM_001258274.3:c.1386dup	NP_001245203.1:p.Val463SerfsTer19
NM_001354615.2:c.1386dup	NP_001341544.1:p.Val463SerfsTer19
NM_001354616.2:c.1386dup	NP_001341545.1:p.Val463SerfsTer19
NM_001354617.2:c.1386dup	NP_001341546.1:p.Val463SerfsTer19
NM_001354618.2:c.1386dup	NP_001341547.1:p.Val463SerfsTer19
NM_001354619.2:c.1386dup	NP_001341548.1:p.Val463SerfsTer19
NM_001354620.2:c.1815dup	NP_001341549.1:p.Val606SerfsTer19
NM_001354621.2:c.1086dup	NP_001341550.1:p.Val363SerfsTer19
NM_001354622.2:c.1086dup	NP_001341551.1:p.Val363SerfsTer19
NM_001354623.2:c.1086dup	NP_001341552.1:p.Val363SerfsTer19
NM_001354624.2:c.1035dup	NP_001341553.1:p.Val346SerfsTer19
NM_001354625.2:c.1035dup	NP_001341554.1:p.Val346SerfsTer19
NM_001354626.2:c.1035dup	NP_001341555.1:p.Val346SerfsTer19
NM_001354627.2:c.1035dup	NP_001341556.1:p.Val346SerfsTer19
NM_001354628.2:c.2016dup	NP_001341557.1:p.Val673SerfsTer19
NM_001354629.2:c.2010dup	NP_001341558.1:p.Val671SerfsTer19
NM_001354630.2:c.1944dup	NP_001341559.1:p.Val649SerfsTer19