Canonical Allele Identifier: CA1139657994
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 973382
ClinVar RCV Id: RCV001249903
dbSNP Id: rs2085633095

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050544_37050559delinsT , CM000665.2:g.37050544_37050559delinsT GRCh38
NC_000003.11:g.37092035_37092050delinsT , CM000665.1:g.37092035_37092050delinsT GRCh37
NC_000003.10:g.37067039_37067054delinsT NCBI36
NG_007109.2:g.62195_62210delinsT , LRG_216:g.62195_62210delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1726_1741delinsT ENSP00000416476.2:p.Ile576_His581delinsTy...
ENST00000429117.6:c.1868_1883delinsT ENSP00000407019.2:p.Tyr623_Ser628delinsLe...
ENST00000456676.7:c.1955_1970delinsT ENSP00000416687.3:p.Tyr652_Ser657delinsLe...
ENST00000492474.6:c.1439_1454delinsT ENSP00000518393.1:p.Tyr480_Ser485delinsLe...
ENST00000616768.6:c.2069_2084delinsT ENSP00000480669.3:p.Tyr690_Ser695delinsLe...
ENST00000673673.2:c.1997_2012delinsT ENSP00000500979.2:p.Tyr666_Ser671delinsLe...
ENST00000231790.8:c.2162_2177delinsT MANE Select ENSP00000231790.3:p.Tyr721_Ser726delinsLe...
ENST00000413212.2:c.*1080_*1095delinsT ENSP00000400844.2:n.*1080_*1095delinsT
ENST00000432299.6:c.*1994_*2009delinsT ENSP00000416783.1:n.*1994_*2009delinsT
ENST00000447829.6:c.*1273_*1288delinsT ENSP00000399329.2:n.*1273_*1288delinsT
ENST00000539477.6:c.1439_1454delinsT ENSP00000443665.1:p.Tyr480_Ser485delinsLe...
ENST00000616768.5:c.1106_1121delinsT ENSP00000480669.2:p.Tyr369_Ser374delinsLe...
ENST00000673673.1:c.1950_1965delinsT
ENST00000673741.1:n.1196_1211delinsT
ENST00000673889.1:n.1544_1559delinsT
ENST00000673897.1:c.*1954_*1969delinsT ENSP00000501109.1:n.*1954_*1969delinsT
ENST00000673899.1:c.1430_1445delinsT ENSP00000501030.1:p.Tyr477_Ser482delinsLe...
ENST00000673947.1:c.*2302_*2317delinsT ENSP00000501304.1:n.*2302_*2317delinsT
ENST00000673972.1:c.*2040_*2055delinsT ENSP00000501281.1:n.*2040_*2055delinsT
ENST00000674019.1:c.1439_1454delinsT ENSP00000501081.1:p.Tyr480_Ser485delinsLe...
ENST00000674111.1:c.*391_*406delinsT ENSP00000501162.1:n.*391_*406delinsT
ENST00000674125.1:n.873_888delinsT
ENST00000231790.6:c.2162_2177delinsT ENSP00000231790.2:p.Tyr721_Ser726delinsLe...
ENST00000435176.5:c.1868_1883delinsT ENSP00000402564.1:p.Tyr623_Ser628delinsLe...
ENST00000455445.6:c.1439_1454delinsT ENSP00000398272.2:p.Tyr480_Ser485delinsLe...
ENST00000456676.6:c.1930_1945delinsT
ENST00000458205.6:c.1439_1454delinsT ENSP00000402667.2:p.Tyr480_Ser485delinsLe...
ENST00000536378.5:c.1439_1454delinsT ENSP00000444286.2:p.Tyr480_Ser485delinsLe...
ENST00000539477.5:c.1439_1454delinsT ENSP00000443665.1:p.Tyr480_Ser485delinsLe...
NM_000249.3:c.2162_2177delinsT , LRG_216t1:c.2162_2177delinsT NP_000240.1:p.Tyr721_Ser726delinsLeu
NM_001167617.1:c.1868_1883delinsT NP_001161089.1:p.Tyr623_Ser628delinsLeu
NM_001167618.1:c.1439_1454delinsT NP_001161090.1:p.Tyr480_Ser485delinsLeu
NM_001167619.1:c.1439_1454delinsT NP_001161091.1:p.Tyr480_Ser485delinsLeu
NM_001258271.1:c.1955_1970delinsT NP_001245200.1:p.Tyr652_Ser657delinsLeu
NM_001258273.1:c.1439_1454delinsT NP_001245202.1:p.Tyr480_Ser485delinsLeu
NM_001258274.1:c.1439_1454delinsT NP_001245203.1:p.Tyr480_Ser485delinsLeu
XM_005265161.1:c.1955_1970delinsT XP_005265218.1:p.Tyr652_Ser657delinsLeu
XM_005265163.1:c.1439_1454delinsT XP_005265220.1:p.Tyr480_Ser485delinsLeu
XM_005265164.1:c.1439_1454delinsT XP_005265221.1:p.Tyr480_Ser485delinsLeu
XM_005265166.1:c.1139_1154delinsT XP_005265223.1:p.Tyr380_Ser385delinsLeu
XM_011533727.1:c.1088_1103delinsT XP_011532029.1:p.Tyr363_Ser368delinsLeu
NM_001167617.2:c.1868_1883delinsT NP_001161089.1:p.Tyr623_Ser628delinsLeu
NM_001167618.2:c.1439_1454delinsT NP_001161090.1:p.Tyr480_Ser485delinsLeu
NM_001167619.2:c.1439_1454delinsT NP_001161091.1:p.Tyr480_Ser485delinsLeu
NM_001258274.2:c.1439_1454delinsT NP_001245203.1:p.Tyr480_Ser485delinsLeu
NM_001354615.1:c.1439_1454delinsT NP_001341544.1:p.Tyr480_Ser485delinsLeu
NM_001354616.1:c.1439_1454delinsT NP_001341545.1:p.Tyr480_Ser485delinsLeu
NM_001354617.1:c.1439_1454delinsT NP_001341546.1:p.Tyr480_Ser485delinsLeu
NM_001354618.1:c.1439_1454delinsT NP_001341547.1:p.Tyr480_Ser485delinsLeu
NM_001354619.1:c.1439_1454delinsT NP_001341548.1:p.Tyr480_Ser485delinsLeu
NM_001354620.1:c.1868_1883delinsT NP_001341549.1:p.Tyr623_Ser628delinsLeu
NM_001354621.1:c.1139_1154delinsT NP_001341550.1:p.Tyr380_Ser385delinsLeu
NM_001354622.1:c.1139_1154delinsT NP_001341551.1:p.Tyr380_Ser385delinsLeu
NM_001354623.1:c.1139_1154delinsT NP_001341552.1:p.Tyr380_Ser385delinsLeu
NM_001354624.1:c.1088_1103delinsT NP_001341553.1:p.Tyr363_Ser368delinsLeu
NM_001354625.1:c.1088_1103delinsT NP_001341554.1:p.Tyr363_Ser368delinsLeu
NM_001354626.1:c.1088_1103delinsT NP_001341555.1:p.Tyr363_Ser368delinsLeu
NM_001354627.1:c.1088_1103delinsT NP_001341556.1:p.Tyr363_Ser368delinsLeu
NM_001354628.1:c.2069_2084delinsT NP_001341557.1:p.Tyr690_Ser695delinsLeu
NM_001354629.1:c.2063_2078delinsT NP_001341558.1:p.Tyr688_Ser693delinsLeu
NM_001354630.1:c.1997_2012delinsT NP_001341559.1:p.Tyr666_Ser671delinsLeu
XM_005265161.2:c.1955_1970delinsT XP_005265218.1:p.Tyr652_Ser657delinsLeu
XM_017006450.2:c.1139_1154delinsT XP_016861939.1:p.Tyr380_Ser385delinsLeu
NM_000249.4:c.2162_2177delinsT MANE Select NP_000240.1:p.Tyr721_Ser726delinsLeu
NM_001167617.3:c.1868_1883delinsT NP_001161089.1:p.Tyr623_Ser628delinsLeu
NM_001167618.3:c.1439_1454delinsT NP_001161090.1:p.Tyr480_Ser485delinsLeu
NM_001167619.3:c.1439_1454delinsT NP_001161091.1:p.Tyr480_Ser485delinsLeu
NM_001258271.2:c.1955_1970delinsT NP_001245200.1:p.Tyr652_Ser657delinsLeu
NM_001258273.2:c.1439_1454delinsT NP_001245202.1:p.Tyr480_Ser485delinsLeu
NM_001258274.3:c.1439_1454delinsT NP_001245203.1:p.Tyr480_Ser485delinsLeu
NM_001354615.2:c.1439_1454delinsT NP_001341544.1:p.Tyr480_Ser485delinsLeu
NM_001354616.2:c.1439_1454delinsT NP_001341545.1:p.Tyr480_Ser485delinsLeu
NM_001354617.2:c.1439_1454delinsT NP_001341546.1:p.Tyr480_Ser485delinsLeu
NM_001354618.2:c.1439_1454delinsT NP_001341547.1:p.Tyr480_Ser485delinsLeu
NM_001354619.2:c.1439_1454delinsT NP_001341548.1:p.Tyr480_Ser485delinsLeu
NM_001354620.2:c.1868_1883delinsT NP_001341549.1:p.Tyr623_Ser628delinsLeu
NM_001354621.2:c.1139_1154delinsT NP_001341550.1:p.Tyr380_Ser385delinsLeu
NM_001354622.2:c.1139_1154delinsT NP_001341551.1:p.Tyr380_Ser385delinsLeu
NM_001354623.2:c.1139_1154delinsT NP_001341552.1:p.Tyr380_Ser385delinsLeu
NM_001354624.2:c.1088_1103delinsT NP_001341553.1:p.Tyr363_Ser368delinsLeu
NM_001354625.2:c.1088_1103delinsT NP_001341554.1:p.Tyr363_Ser368delinsLeu
NM_001354626.2:c.1088_1103delinsT NP_001341555.1:p.Tyr363_Ser368delinsLeu
NM_001354627.2:c.1088_1103delinsT NP_001341556.1:p.Tyr363_Ser368delinsLeu
NM_001354628.2:c.2069_2084delinsT NP_001341557.1:p.Tyr690_Ser695delinsLeu
NM_001354629.2:c.2063_2078delinsT NP_001341558.1:p.Tyr688_Ser693delinsLeu
NM_001354630.2:c.1997_2012delinsT NP_001341559.1:p.Tyr666_Ser671delinsLeu