Canonical Allele Identifier: CA2580069350

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1777084
• ClinVar RCV Id: RCV003097048 ; RCV002403580 ; RCV003454264

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37040270_37040276del , CM000665.2:g.37040270_37040276del	GRCh38
NC_000003.11:g.37081761_37081767del , CM000665.1:g.37081761_37081767del	GRCh37
NC_000003.10:g.37056765_37056771del	NCBI36
NG_007109.2:g.51921_51927del , LRG_216:g.51921_51927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1643_1649del	ENSP00000416476.2:p.Tyr548SerfsTer8
ENST00000429117.6:c.1349_1355del	ENSP00000407019.2:p.Tyr450SerfsTer?
ENST00000450420.6:c.1559-10216_1559-10210del	ENSP00000393006.2:n.1559-10216_1559-10210del
ENST00000456676.7:c.1643_1649del	ENSP00000416687.3:p.Tyr548SerfsTer?
ENST00000492474.6:c.920_926del	ENSP00000518393.1:p.Tyr307SerfsTer?
ENST00000616768.6:c.1643_1649del	ENSP00000480669.3:p.Tyr548SerfsTer?
ENST00000673673.2:c.1643_1649del	ENSP00000500979.2:p.Tyr548SerfsTer?
ENST00000231790.8:c.1643_1649del MANE Select	ENSP00000231790.3:p.Tyr548SerfsTer?
ENST00000413212.2:c.*561_*567del	ENSP00000400844.2:n.*561_*567del
ENST00000432299.6:c.*1475_*1481del	ENSP00000416783.1:n.*1475_*1481del
ENST00000441265.6:c.920_926del	ENSP00000398392.2:p.Tyr307SerfsTer13
ENST00000447829.6:c.*754_*760del	ENSP00000399329.2:n.*754_*760del
ENST00000539477.6:c.920_926del	ENSP00000443665.1:p.Tyr307SerfsTer?
ENST00000616768.5:c.680_686del	ENSP00000480669.2:p.Tyr227SerfsTer?
ENST00000673673.1:c.1596_1602del
ENST00000673715.1:c.1643_1649del	ENSP00000501301.1:p.Tyr548SerfsTer?
ENST00000673889.1:n.1025_1031del
ENST00000673897.1:c.*1435_*1441del	ENSP00000501109.1:n.*1435_*1441del
ENST00000673899.1:c.911_917del	ENSP00000501030.1:p.Tyr304SerfsTer?
ENST00000673947.1:c.*1783_*1789del	ENSP00000501304.1:n.*1783_*1789del
ENST00000673972.1:c.*1521_*1527del	ENSP00000501281.1:n.*1521_*1527del
ENST00000673990.1:n.1534_1540del
ENST00000674019.1:c.920_926del	ENSP00000501081.1:p.Tyr307SerfsTer?
ENST00000674111.1:c.1643_1649del	ENSP00000501162.1:p.Tyr548SerfsTer13
ENST00000674125.1:n.354_360del
ENST00000231790.6:c.1643_1649del	ENSP00000231790.2:p.Tyr548SerfsTer?
ENST00000413740.1:c.266_272del	ENSP00000416476.1:p.Tyr89SerfsTer8
ENST00000435176.5:c.1349_1355del	ENSP00000402564.1:p.Tyr450SerfsTer?
ENST00000450420.5:c.182-10216_182-10210del	ENSP00000393006.1:n.182-10216_182-10210del
ENST00000455445.6:c.920_926del	ENSP00000398272.2:p.Tyr307SerfsTer?
ENST00000456676.6:c.1618_1624del
ENST00000458205.6:c.920_926del	ENSP00000402667.2:p.Tyr307SerfsTer?
ENST00000536378.5:c.920_926del	ENSP00000444286.2:p.Tyr307SerfsTer?
ENST00000539477.5:c.920_926del	ENSP00000443665.1:p.Tyr307SerfsTer?
ENST00000616768.4:c.411_417del
NM_000249.3:c.1643_1649del , LRG_216t1:c.1643_1649del	NP_000240.1:p.Tyr548SerfsTer?
NM_001167617.1:c.1349_1355del	NP_001161089.1:p.Tyr450SerfsTer?
NM_001167618.1:c.920_926del	NP_001161090.1:p.Tyr307SerfsTer?
NM_001167619.1:c.920_926del	NP_001161091.1:p.Tyr307SerfsTer?
NM_001258271.1:c.1643_1649del	NP_001245200.1:p.Tyr548SerfsTer?
NM_001258273.1:c.920_926del	NP_001245202.1:p.Tyr307SerfsTer?
NM_001258274.1:c.920_926del	NP_001245203.1:p.Tyr307SerfsTer?
XM_005265161.1:c.1436_1442del	XP_005265218.1:p.Tyr479SerfsTer?
XM_005265163.1:c.920_926del	XP_005265220.1:p.Tyr307SerfsTer?
XM_005265164.1:c.920_926del	XP_005265221.1:p.Tyr307SerfsTer?
XM_005265166.1:c.620_626del	XP_005265223.1:p.Tyr207SerfsTer?
XM_011533727.1:c.569_575del	XP_011532029.1:p.Tyr190SerfsTer?
NM_001167617.2:c.1349_1355del	NP_001161089.1:p.Tyr450SerfsTer?
NM_001167618.2:c.920_926del	NP_001161090.1:p.Tyr307SerfsTer?
NM_001167619.2:c.920_926del	NP_001161091.1:p.Tyr307SerfsTer?
NM_001258274.2:c.920_926del	NP_001245203.1:p.Tyr307SerfsTer?
NM_001354615.1:c.920_926del	NP_001341544.1:p.Tyr307SerfsTer?
NM_001354616.1:c.920_926del	NP_001341545.1:p.Tyr307SerfsTer?
NM_001354617.1:c.920_926del	NP_001341546.1:p.Tyr307SerfsTer?
NM_001354618.1:c.920_926del	NP_001341547.1:p.Tyr307SerfsTer?
NM_001354619.1:c.920_926del	NP_001341548.1:p.Tyr307SerfsTer?
NM_001354620.1:c.1349_1355del	NP_001341549.1:p.Tyr450SerfsTer?
NM_001354621.1:c.620_626del	NP_001341550.1:p.Tyr207SerfsTer?
NM_001354622.1:c.620_626del	NP_001341551.1:p.Tyr207SerfsTer?
NM_001354623.1:c.620_626del	NP_001341552.1:p.Tyr207SerfsTer?
NM_001354624.1:c.569_575del	NP_001341553.1:p.Tyr190SerfsTer?
NM_001354625.1:c.569_575del	NP_001341554.1:p.Tyr190SerfsTer?
NM_001354626.1:c.569_575del	NP_001341555.1:p.Tyr190SerfsTer?
NM_001354627.1:c.569_575del	NP_001341556.1:p.Tyr190SerfsTer?
NM_001354628.1:c.1643_1649del	NP_001341557.1:p.Tyr548SerfsTer?
NM_001354629.1:c.1544_1550del	NP_001341558.1:p.Tyr515SerfsTer?
NM_001354630.1:c.1643_1649del	NP_001341559.1:p.Tyr548SerfsTer?
XM_005265161.2:c.1436_1442del	XP_005265218.1:p.Tyr479SerfsTer?
XM_017006450.2:c.620_626del	XP_016861939.1:p.Tyr207SerfsTer?
NM_000249.4:c.1643_1649del MANE Select	NP_000240.1:p.Tyr548SerfsTer?
NM_001167617.3:c.1349_1355del	NP_001161089.1:p.Tyr450SerfsTer?
NM_001167618.3:c.920_926del	NP_001161090.1:p.Tyr307SerfsTer?
NM_001167619.3:c.920_926del	NP_001161091.1:p.Tyr307SerfsTer?
NM_001258271.2:c.1643_1649del	NP_001245200.1:p.Tyr548SerfsTer?
NM_001258273.2:c.920_926del	NP_001245202.1:p.Tyr307SerfsTer?
NM_001258274.3:c.920_926del	NP_001245203.1:p.Tyr307SerfsTer?
NM_001354615.2:c.920_926del	NP_001341544.1:p.Tyr307SerfsTer?
NM_001354616.2:c.920_926del	NP_001341545.1:p.Tyr307SerfsTer?
NM_001354617.2:c.920_926del	NP_001341546.1:p.Tyr307SerfsTer?
NM_001354618.2:c.920_926del	NP_001341547.1:p.Tyr307SerfsTer?
NM_001354619.2:c.920_926del	NP_001341548.1:p.Tyr307SerfsTer?
NM_001354620.2:c.1349_1355del	NP_001341549.1:p.Tyr450SerfsTer?
NM_001354621.2:c.620_626del	NP_001341550.1:p.Tyr207SerfsTer?
NM_001354622.2:c.620_626del	NP_001341551.1:p.Tyr207SerfsTer?
NM_001354623.2:c.620_626del	NP_001341552.1:p.Tyr207SerfsTer?
NM_001354624.2:c.569_575del	NP_001341553.1:p.Tyr190SerfsTer?
NM_001354625.2:c.569_575del	NP_001341554.1:p.Tyr190SerfsTer?
NM_001354626.2:c.569_575del	NP_001341555.1:p.Tyr190SerfsTer?
NM_001354627.2:c.569_575del	NP_001341556.1:p.Tyr190SerfsTer?
NM_001354628.2:c.1643_1649del	NP_001341557.1:p.Tyr548SerfsTer?
NM_001354629.2:c.1544_1550del	NP_001341558.1:p.Tyr515SerfsTer?
NM_001354630.2:c.1643_1649del	NP_001341559.1:p.Tyr548SerfsTer?