Canonical Allele Identifier: CA2573136246

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1453286
• ClinVar RCV Id: RCV001994769 ; RCV002425321 ; RCV003316856
• dbSNP Id: rs2148522723

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050520_37050533del , CM000665.2:g.37050520_37050533del	GRCh38
NC_000003.11:g.37092011_37092024del , CM000665.1:g.37092011_37092024del	GRCh37
NC_000003.10:g.37067015_37067028del	NCBI36
NG_007109.2:g.62171_62184del , LRG_216:g.62171_62184del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1702_1715del	ENSP00000416476.2:p.Ser568HisfsTer?
ENST00000429117.6:c.1844_1857del	ENSP00000407019.2:p.Lys615ThrfsTer5
ENST00000450420.6:c.*30_*43del	ENSP00000393006.2:n.*30_*43del
ENST00000456676.7:c.1931_1944del	ENSP00000416687.3:p.Lys644ThrfsTer5
ENST00000492474.6:c.1415_1428del	ENSP00000518393.1:p.Lys472ThrfsTer5
ENST00000616768.6:c.2045_2058del	ENSP00000480669.3:p.Lys682ThrfsTer5
ENST00000673673.2:c.1973_1986del	ENSP00000500979.2:p.Lys658ThrfsTer5
ENST00000231790.8:c.2138_2151del MANE Select	ENSP00000231790.3:p.Lys713ThrfsTer5
ENST00000413212.2:c.*1056_*1069del	ENSP00000400844.2:n.*1056_*1069del
ENST00000432299.6:c.*1970_*1983del	ENSP00000416783.1:n.*1970_*1983del
ENST00000447829.6:c.*1249_*1262del	ENSP00000399329.2:n.*1249_*1262del
ENST00000539477.6:c.1415_1428del	ENSP00000443665.1:p.Lys472ThrfsTer5
ENST00000616768.5:c.1082_1095del	ENSP00000480669.2:p.Lys361ThrfsTer5
ENST00000673673.1:c.1926_1939del
ENST00000673741.1:n.1172_1185del
ENST00000673889.1:n.1520_1533del
ENST00000673897.1:c.*1930_*1943del	ENSP00000501109.1:n.*1930_*1943del
ENST00000673899.1:c.1406_1419del	ENSP00000501030.1:p.Lys469ThrfsTer5
ENST00000673947.1:c.*2278_*2291del	ENSP00000501304.1:n.*2278_*2291del
ENST00000673972.1:c.*2016_*2029del	ENSP00000501281.1:n.*2016_*2029del
ENST00000674019.1:c.1415_1428del	ENSP00000501081.1:p.Lys472ThrfsTer5
ENST00000674111.1:c.*367_*380del	ENSP00000501162.1:n.*367_*380del
ENST00000674125.1:n.849_862del
ENST00000231790.6:c.2138_2151del	ENSP00000231790.2:p.Lys713ThrfsTer5
ENST00000413740.1:c.325_338del	ENSP00000416476.1:p.Ser109HisfsTer?
ENST00000435176.5:c.1844_1857del	ENSP00000402564.1:p.Lys615ThrfsTer5
ENST00000450420.5:c.216_229del	ENSP00000393006.1:n.216_229del
ENST00000455445.6:c.1415_1428del	ENSP00000398272.2:p.Lys472ThrfsTer5
ENST00000456676.6:c.1906_1919del
ENST00000458205.6:c.1415_1428del	ENSP00000402667.2:p.Lys472ThrfsTer5
ENST00000536378.5:c.1415_1428del	ENSP00000444286.2:p.Lys472ThrfsTer5
ENST00000539477.5:c.1415_1428del	ENSP00000443665.1:p.Lys472ThrfsTer5
NM_000249.3:c.2138_2151del , LRG_216t1:c.2138_2151del	NP_000240.1:p.Lys713ThrfsTer5
NM_001167617.1:c.1844_1857del	NP_001161089.1:p.Lys615ThrfsTer5
NM_001167618.1:c.1415_1428del	NP_001161090.1:p.Lys472ThrfsTer5
NM_001167619.1:c.1415_1428del	NP_001161091.1:p.Lys472ThrfsTer5
NM_001258271.1:c.1931_1944del	NP_001245200.1:p.Lys644ThrfsTer5
NM_001258273.1:c.1415_1428del	NP_001245202.1:p.Lys472ThrfsTer5
NM_001258274.1:c.1415_1428del	NP_001245203.1:p.Lys472ThrfsTer5
XM_005265161.1:c.1931_1944del	XP_005265218.1:p.Lys644ThrfsTer5
XM_005265163.1:c.1415_1428del	XP_005265220.1:p.Lys472ThrfsTer5
XM_005265164.1:c.1415_1428del	XP_005265221.1:p.Lys472ThrfsTer5
XM_005265166.1:c.1115_1128del	XP_005265223.1:p.Lys372ThrfsTer5
XM_011533727.1:c.1064_1077del	XP_011532029.1:p.Lys355ThrfsTer5
NM_001167617.2:c.1844_1857del	NP_001161089.1:p.Lys615ThrfsTer5
NM_001167618.2:c.1415_1428del	NP_001161090.1:p.Lys472ThrfsTer5
NM_001167619.2:c.1415_1428del	NP_001161091.1:p.Lys472ThrfsTer5
NM_001258274.2:c.1415_1428del	NP_001245203.1:p.Lys472ThrfsTer5
NM_001354615.1:c.1415_1428del	NP_001341544.1:p.Lys472ThrfsTer5
NM_001354616.1:c.1415_1428del	NP_001341545.1:p.Lys472ThrfsTer5
NM_001354617.1:c.1415_1428del	NP_001341546.1:p.Lys472ThrfsTer5
NM_001354618.1:c.1415_1428del	NP_001341547.1:p.Lys472ThrfsTer5
NM_001354619.1:c.1415_1428del	NP_001341548.1:p.Lys472ThrfsTer5
NM_001354620.1:c.1844_1857del	NP_001341549.1:p.Lys615ThrfsTer5
NM_001354621.1:c.1115_1128del	NP_001341550.1:p.Lys372ThrfsTer5
NM_001354622.1:c.1115_1128del	NP_001341551.1:p.Lys372ThrfsTer5
NM_001354623.1:c.1115_1128del	NP_001341552.1:p.Lys372ThrfsTer5
NM_001354624.1:c.1064_1077del	NP_001341553.1:p.Lys355ThrfsTer5
NM_001354625.1:c.1064_1077del	NP_001341554.1:p.Lys355ThrfsTer5
NM_001354626.1:c.1064_1077del	NP_001341555.1:p.Lys355ThrfsTer5
NM_001354627.1:c.1064_1077del	NP_001341556.1:p.Lys355ThrfsTer5
NM_001354628.1:c.2045_2058del	NP_001341557.1:p.Lys682ThrfsTer5
NM_001354629.1:c.2039_2052del	NP_001341558.1:p.Lys680ThrfsTer5
NM_001354630.1:c.1973_1986del	NP_001341559.1:p.Lys658ThrfsTer5
XM_005265161.2:c.1931_1944del	XP_005265218.1:p.Lys644ThrfsTer5
XM_017006450.2:c.1115_1128del	XP_016861939.1:p.Lys372ThrfsTer5
NM_000249.4:c.2138_2151del MANE Select	NP_000240.1:p.Lys713ThrfsTer5
NM_001167617.3:c.1844_1857del	NP_001161089.1:p.Lys615ThrfsTer5
NM_001167618.3:c.1415_1428del	NP_001161090.1:p.Lys472ThrfsTer5
NM_001167619.3:c.1415_1428del	NP_001161091.1:p.Lys472ThrfsTer5
NM_001258271.2:c.1931_1944del	NP_001245200.1:p.Lys644ThrfsTer5
NM_001258273.2:c.1415_1428del	NP_001245202.1:p.Lys472ThrfsTer5
NM_001258274.3:c.1415_1428del	NP_001245203.1:p.Lys472ThrfsTer5
NM_001354615.2:c.1415_1428del	NP_001341544.1:p.Lys472ThrfsTer5
NM_001354616.2:c.1415_1428del	NP_001341545.1:p.Lys472ThrfsTer5
NM_001354617.2:c.1415_1428del	NP_001341546.1:p.Lys472ThrfsTer5
NM_001354618.2:c.1415_1428del	NP_001341547.1:p.Lys472ThrfsTer5
NM_001354619.2:c.1415_1428del	NP_001341548.1:p.Lys472ThrfsTer5
NM_001354620.2:c.1844_1857del	NP_001341549.1:p.Lys615ThrfsTer5
NM_001354621.2:c.1115_1128del	NP_001341550.1:p.Lys372ThrfsTer5
NM_001354622.2:c.1115_1128del	NP_001341551.1:p.Lys372ThrfsTer5
NM_001354623.2:c.1115_1128del	NP_001341552.1:p.Lys372ThrfsTer5
NM_001354624.2:c.1064_1077del	NP_001341553.1:p.Lys355ThrfsTer5
NM_001354625.2:c.1064_1077del	NP_001341554.1:p.Lys355ThrfsTer5
NM_001354626.2:c.1064_1077del	NP_001341555.1:p.Lys355ThrfsTer5
NM_001354627.2:c.1064_1077del	NP_001341556.1:p.Lys355ThrfsTer5
NM_001354628.2:c.2045_2058del	NP_001341557.1:p.Lys682ThrfsTer5
NM_001354629.2:c.2039_2052del	NP_001341558.1:p.Lys680ThrfsTer5
NM_001354630.2:c.1973_1986del	NP_001341559.1:p.Lys658ThrfsTer5