Canonical Allele Identifier: CA916080316
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 856690
dbSNP Id: rs2084646294

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37040248_37040249delinsTT , CM000665.2:g.37040248_37040249delinsTT GRCh38
NC_000003.11:g.37081739_37081740delinsTT , CM000665.1:g.37081739_37081740delinsTT GRCh37
NC_000003.10:g.37056743_37056744delinsTT NCBI36
NG_007109.2:g.51899_51900delinsTT , LRG_216:g.51899_51900delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1621_1622delinsTT ENSP00000416476.2:p.Ala541Leu
ENST00000429117.6:c.1327_1328delinsTT ENSP00000407019.2:p.Ala443Leu
ENST00000450420.6:c.1559-10238_1559-10237delinsTT ENSP00000393006.2:n.1559-10238_1559-10237delinsTT
ENST00000456676.7:c.1621_1622delinsTT ENSP00000416687.3:p.Ala541Leu
ENST00000492474.6:c.898_899delinsTT ENSP00000518393.1:p.Ala300Leu
ENST00000616768.6:c.1621_1622delinsTT ENSP00000480669.3:p.Ala541Leu
ENST00000673673.2:c.1621_1622delinsTT ENSP00000500979.2:p.Ala541Leu
ENST00000231790.8:c.1621_1622delinsTT MANE Select ENSP00000231790.3:p.Ala541Leu
ENST00000413212.2:c.*539_*540delinsTT ENSP00000400844.2:n.*539_*540delinsTT
ENST00000432299.6:c.*1453_*1454delinsTT ENSP00000416783.1:n.*1453_*1454delinsTT
ENST00000441265.6:c.898_899delinsTT ENSP00000398392.2:p.Ala300Leu
ENST00000447829.6:c.*732_*733delinsTT ENSP00000399329.2:n.*732_*733delinsTT
ENST00000539477.6:c.898_899delinsTT ENSP00000443665.1:p.Ala300Leu
ENST00000616768.5:c.658_659delinsTT ENSP00000480669.2:p.Ala220Leu
ENST00000673673.1:c.1574_1575delinsTT
ENST00000673715.1:c.1621_1622delinsTT ENSP00000501301.1:p.Ala541Leu
ENST00000673889.1:n.1003_1004delinsTT
ENST00000673897.1:c.*1413_*1414delinsTT ENSP00000501109.1:n.*1413_*1414delinsTT
ENST00000673899.1:c.889_890delinsTT ENSP00000501030.1:p.Ala297Leu
ENST00000673947.1:c.*1761_*1762delinsTT ENSP00000501304.1:n.*1761_*1762delinsTT
ENST00000673972.1:c.*1499_*1500delinsTT ENSP00000501281.1:n.*1499_*1500delinsTT
ENST00000673990.1:n.1512_1513delinsTT
ENST00000674019.1:c.898_899delinsTT ENSP00000501081.1:p.Ala300Leu
ENST00000674111.1:c.1621_1622delinsTT ENSP00000501162.1:p.Ala541Leu
ENST00000674125.1:n.332_333delinsTT
ENST00000231790.6:c.1621_1622delinsTT ENSP00000231790.2:p.Ala541Leu
ENST00000413740.1:c.244_245delinsTT ENSP00000416476.1:p.Ala82Leu
ENST00000435176.5:c.1327_1328delinsTT ENSP00000402564.1:p.Ala443Leu
ENST00000450420.5:c.182-10238_182-10237delinsTT ENSP00000393006.1:n.182-10238_182-10237delinsTT
ENST00000455445.6:c.898_899delinsTT ENSP00000398272.2:p.Ala300Leu
ENST00000456676.6:c.1596_1597delinsTT
ENST00000458205.6:c.898_899delinsTT ENSP00000402667.2:p.Ala300Leu
ENST00000536378.5:c.898_899delinsTT ENSP00000444286.2:p.Ala300Leu
ENST00000539477.5:c.898_899delinsTT ENSP00000443665.1:p.Ala300Leu
ENST00000616768.4:c.389_390delinsTT
NM_000249.3:c.1621_1622delinsTT , LRG_216t1:c.1621_1622delinsTT NP_000240.1:p.Ala541Leu
NM_001167617.1:c.1327_1328delinsTT NP_001161089.1:p.Ala443Leu
NM_001167618.1:c.898_899delinsTT NP_001161090.1:p.Ala300Leu
NM_001167619.1:c.898_899delinsTT NP_001161091.1:p.Ala300Leu
NM_001258271.1:c.1621_1622delinsTT NP_001245200.1:p.Ala541Leu
NM_001258273.1:c.898_899delinsTT NP_001245202.1:p.Ala300Leu
NM_001258274.1:c.898_899delinsTT NP_001245203.1:p.Ala300Leu
XM_005265161.1:c.1414_1415delinsTT XP_005265218.1:p.Ala472Leu
XM_005265163.1:c.898_899delinsTT XP_005265220.1:p.Ala300Leu
XM_005265164.1:c.898_899delinsTT XP_005265221.1:p.Ala300Leu
XM_005265166.1:c.598_599delinsTT XP_005265223.1:p.Ala200Leu
XM_011533727.1:c.547_548delinsTT XP_011532029.1:p.Ala183Leu
NM_001167617.2:c.1327_1328delinsTT NP_001161089.1:p.Ala443Leu
NM_001167618.2:c.898_899delinsTT NP_001161090.1:p.Ala300Leu
NM_001167619.2:c.898_899delinsTT NP_001161091.1:p.Ala300Leu
NM_001258274.2:c.898_899delinsTT NP_001245203.1:p.Ala300Leu
NM_001354615.1:c.898_899delinsTT NP_001341544.1:p.Ala300Leu
NM_001354616.1:c.898_899delinsTT NP_001341545.1:p.Ala300Leu
NM_001354617.1:c.898_899delinsTT NP_001341546.1:p.Ala300Leu
NM_001354618.1:c.898_899delinsTT NP_001341547.1:p.Ala300Leu
NM_001354619.1:c.898_899delinsTT NP_001341548.1:p.Ala300Leu
NM_001354620.1:c.1327_1328delinsTT NP_001341549.1:p.Ala443Leu
NM_001354621.1:c.598_599delinsTT NP_001341550.1:p.Ala200Leu
NM_001354622.1:c.598_599delinsTT NP_001341551.1:p.Ala200Leu
NM_001354623.1:c.598_599delinsTT NP_001341552.1:p.Ala200Leu
NM_001354624.1:c.547_548delinsTT NP_001341553.1:p.Ala183Leu
NM_001354625.1:c.547_548delinsTT NP_001341554.1:p.Ala183Leu
NM_001354626.1:c.547_548delinsTT NP_001341555.1:p.Ala183Leu
NM_001354627.1:c.547_548delinsTT NP_001341556.1:p.Ala183Leu
NM_001354628.1:c.1621_1622delinsTT NP_001341557.1:p.Ala541Leu
NM_001354629.1:c.1522_1523delinsTT NP_001341558.1:p.Ala508Leu
NM_001354630.1:c.1621_1622delinsTT NP_001341559.1:p.Ala541Leu
XM_005265161.2:c.1414_1415delinsTT XP_005265218.1:p.Ala472Leu
XM_017006450.2:c.598_599delinsTT XP_016861939.1:p.Ala200Leu
NM_000249.4:c.1621_1622delinsTT MANE Select NP_000240.1:p.Ala541Leu
NM_001167617.3:c.1327_1328delinsTT NP_001161089.1:p.Ala443Leu
NM_001167618.3:c.898_899delinsTT NP_001161090.1:p.Ala300Leu
NM_001167619.3:c.898_899delinsTT NP_001161091.1:p.Ala300Leu
NM_001258271.2:c.1621_1622delinsTT NP_001245200.1:p.Ala541Leu
NM_001258273.2:c.898_899delinsTT NP_001245202.1:p.Ala300Leu
NM_001258274.3:c.898_899delinsTT NP_001245203.1:p.Ala300Leu
NM_001354615.2:c.898_899delinsTT NP_001341544.1:p.Ala300Leu
NM_001354616.2:c.898_899delinsTT NP_001341545.1:p.Ala300Leu
NM_001354617.2:c.898_899delinsTT NP_001341546.1:p.Ala300Leu
NM_001354618.2:c.898_899delinsTT NP_001341547.1:p.Ala300Leu
NM_001354619.2:c.898_899delinsTT NP_001341548.1:p.Ala300Leu
NM_001354620.2:c.1327_1328delinsTT NP_001341549.1:p.Ala443Leu
NM_001354621.2:c.598_599delinsTT NP_001341550.1:p.Ala200Leu
NM_001354622.2:c.598_599delinsTT NP_001341551.1:p.Ala200Leu
NM_001354623.2:c.598_599delinsTT NP_001341552.1:p.Ala200Leu
NM_001354624.2:c.547_548delinsTT NP_001341553.1:p.Ala183Leu
NM_001354625.2:c.547_548delinsTT NP_001341554.1:p.Ala183Leu
NM_001354626.2:c.547_548delinsTT NP_001341555.1:p.Ala183Leu
NM_001354627.2:c.547_548delinsTT NP_001341556.1:p.Ala183Leu
NM_001354628.2:c.1621_1622delinsTT NP_001341557.1:p.Ala541Leu
NM_001354629.2:c.1522_1523delinsTT NP_001341558.1:p.Ala508Leu
NM_001354630.2:c.1621_1622delinsTT NP_001341559.1:p.Ala541Leu