Canonical Allele Identifier: CA1046901767

Gene: MLH1

Linked Data

• dbSNP Id: rs2085608187
• gnomAD v3: 3-37050434-T-TA
• gnomAD v4: 3-37050434-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050434_37050435insA , CM000665.2:g.37050434_37050435insA	GRCh38
NC_000003.11:g.37091925_37091926insA , CM000665.1:g.37091925_37091926insA	GRCh37
NC_000003.10:g.37066929_37066930insA	NCBI36
NG_007109.2:g.62085_62086insA , LRG_216:g.62085_62086insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-52_1668-51insA	ENSP00000416476.2:n.1668-52_1668-51insA
ENST00000429117.6:c.1810-52_1810-51insA	ENSP00000407019.2:n.1810-52_1810-51insA
ENST00000450420.6:c.1559-52_1559-51insA	ENSP00000393006.2:n.1559-52_1559-51insA
ENST00000456676.7:c.1897-52_1897-51insA	ENSP00000416687.3:n.1897-52_1897-51insA
ENST00000492474.6:c.1381-52_1381-51insA	ENSP00000518393.1:n.1381-52_1381-51insA
ENST00000616768.6:c.2011-52_2011-51insA	ENSP00000480669.3:n.2011-52_2011-51insA
ENST00000673673.2:c.1939-52_1939-51insA	ENSP00000500979.2:n.1939-52_1939-51insA
ENST00000231790.8:c.2104-52_2104-51insA MANE Select	ENSP00000231790.3:n.2104-52_2104-51insA
ENST00000413212.2:c.*1022-52_*1022-51insA	ENSP00000400844.2:n.*1022-52_*1022-51insA
ENST00000432299.6:c.*1936-52_*1936-51insA	ENSP00000416783.1:n.*1936-52_*1936-51insA
ENST00000447829.6:c.*1215-52_*1215-51insA	ENSP00000399329.2:n.*1215-52_*1215-51insA
ENST00000539477.6:c.1381-52_1381-51insA	ENSP00000443665.1:n.1381-52_1381-51insA
ENST00000616768.5:c.1048-52_1048-51insA	ENSP00000480669.2:n.1048-52_1048-51insA
ENST00000673673.1:c.1892-52_1892-51insA
ENST00000673741.1:n.1138-52_1138-51insA
ENST00000673889.1:n.1486-52_1486-51insA
ENST00000673897.1:c.*1896-52_*1896-51insA	ENSP00000501109.1:n.*1896-52_*1896-51insA
ENST00000673899.1:c.1372-52_1372-51insA	ENSP00000501030.1:n.1372-52_1372-51insA
ENST00000673947.1:c.*2244-52_*2244-51insA	ENSP00000501304.1:n.*2244-52_*2244-51insA
ENST00000673972.1:c.*1982-52_*1982-51insA	ENSP00000501281.1:n.*1982-52_*1982-51insA
ENST00000674019.1:c.1381-52_1381-51insA	ENSP00000501081.1:n.1381-52_1381-51insA
ENST00000674111.1:c.*333-52_*333-51insA	ENSP00000501162.1:n.*333-52_*333-51insA
ENST00000674125.1:n.815-52_815-51insA
ENST00000231790.6:c.2104-52_2104-51insA	ENSP00000231790.2:n.2104-52_2104-51insA
ENST00000413740.1:c.291-52_291-51insA	ENSP00000416476.1:n.291-52_291-51insA
ENST00000435176.5:c.1810-52_1810-51insA	ENSP00000402564.1:n.1810-52_1810-51insA
ENST00000450420.5:c.182-52_182-51insA	ENSP00000393006.1:n.182-52_182-51insA
ENST00000455445.6:c.1381-52_1381-51insA	ENSP00000398272.2:n.1381-52_1381-51insA
ENST00000456676.6:c.1872-52_1872-51insA
ENST00000458205.6:c.1381-52_1381-51insA	ENSP00000402667.2:n.1381-52_1381-51insA
ENST00000536378.5:c.1381-52_1381-51insA	ENSP00000444286.2:n.1381-52_1381-51insA
ENST00000539477.5:c.1381-52_1381-51insA	ENSP00000443665.1:n.1381-52_1381-51insA
NM_000249.3:c.2104-52_2104-51insA , LRG_216t1:c.2104-52_2104-51insA	NP_000240.1:n.2104-52_2104-51insA
NM_001167617.1:c.1810-52_1810-51insA	NP_001161089.1:n.1810-52_1810-51insA
NM_001167618.1:c.1381-52_1381-51insA	NP_001161090.1:n.1381-52_1381-51insA
NM_001167619.1:c.1381-52_1381-51insA	NP_001161091.1:n.1381-52_1381-51insA
NM_001258271.1:c.1897-52_1897-51insA	NP_001245200.1:n.1897-52_1897-51insA
NM_001258273.1:c.1381-52_1381-51insA	NP_001245202.1:n.1381-52_1381-51insA
NM_001258274.1:c.1381-52_1381-51insA	NP_001245203.1:n.1381-52_1381-51insA
XM_005265161.1:c.1897-52_1897-51insA	XP_005265218.1:n.1897-52_1897-51insA
XM_005265163.1:c.1381-52_1381-51insA	XP_005265220.1:n.1381-52_1381-51insA
XM_005265164.1:c.1381-52_1381-51insA	XP_005265221.1:n.1381-52_1381-51insA
XM_005265166.1:c.1081-52_1081-51insA	XP_005265223.1:n.1081-52_1081-51insA
XM_011533727.1:c.1030-52_1030-51insA	XP_011532029.1:n.1030-52_1030-51insA
NM_001167617.2:c.1810-52_1810-51insA	NP_001161089.1:n.1810-52_1810-51insA
NM_001167618.2:c.1381-52_1381-51insA	NP_001161090.1:n.1381-52_1381-51insA
NM_001167619.2:c.1381-52_1381-51insA	NP_001161091.1:n.1381-52_1381-51insA
NM_001258274.2:c.1381-52_1381-51insA	NP_001245203.1:n.1381-52_1381-51insA
NM_001354615.1:c.1381-52_1381-51insA	NP_001341544.1:n.1381-52_1381-51insA
NM_001354616.1:c.1381-52_1381-51insA	NP_001341545.1:n.1381-52_1381-51insA
NM_001354617.1:c.1381-52_1381-51insA	NP_001341546.1:n.1381-52_1381-51insA
NM_001354618.1:c.1381-52_1381-51insA	NP_001341547.1:n.1381-52_1381-51insA
NM_001354619.1:c.1381-52_1381-51insA	NP_001341548.1:n.1381-52_1381-51insA
NM_001354620.1:c.1810-52_1810-51insA	NP_001341549.1:n.1810-52_1810-51insA
NM_001354621.1:c.1081-52_1081-51insA	NP_001341550.1:n.1081-52_1081-51insA
NM_001354622.1:c.1081-52_1081-51insA	NP_001341551.1:n.1081-52_1081-51insA
NM_001354623.1:c.1081-52_1081-51insA	NP_001341552.1:n.1081-52_1081-51insA
NM_001354624.1:c.1030-52_1030-51insA	NP_001341553.1:n.1030-52_1030-51insA
NM_001354625.1:c.1030-52_1030-51insA	NP_001341554.1:n.1030-52_1030-51insA
NM_001354626.1:c.1030-52_1030-51insA	NP_001341555.1:n.1030-52_1030-51insA
NM_001354627.1:c.1030-52_1030-51insA	NP_001341556.1:n.1030-52_1030-51insA
NM_001354628.1:c.2011-52_2011-51insA	NP_001341557.1:n.2011-52_2011-51insA
NM_001354629.1:c.2005-52_2005-51insA	NP_001341558.1:n.2005-52_2005-51insA
NM_001354630.1:c.1939-52_1939-51insA	NP_001341559.1:n.1939-52_1939-51insA
XM_005265161.2:c.1897-52_1897-51insA	XP_005265218.1:n.1897-52_1897-51insA
XM_017006450.2:c.1081-52_1081-51insA	XP_016861939.1:n.1081-52_1081-51insA
NM_000249.4:c.2104-52_2104-51insA MANE Select	NP_000240.1:n.2104-52_2104-51insA
NM_001167617.3:c.1810-52_1810-51insA	NP_001161089.1:n.1810-52_1810-51insA
NM_001167618.3:c.1381-52_1381-51insA	NP_001161090.1:n.1381-52_1381-51insA
NM_001167619.3:c.1381-52_1381-51insA	NP_001161091.1:n.1381-52_1381-51insA
NM_001258271.2:c.1897-52_1897-51insA	NP_001245200.1:n.1897-52_1897-51insA
NM_001258273.2:c.1381-52_1381-51insA	NP_001245202.1:n.1381-52_1381-51insA
NM_001258274.3:c.1381-52_1381-51insA	NP_001245203.1:n.1381-52_1381-51insA
NM_001354615.2:c.1381-52_1381-51insA	NP_001341544.1:n.1381-52_1381-51insA
NM_001354616.2:c.1381-52_1381-51insA	NP_001341545.1:n.1381-52_1381-51insA
NM_001354617.2:c.1381-52_1381-51insA	NP_001341546.1:n.1381-52_1381-51insA
NM_001354618.2:c.1381-52_1381-51insA	NP_001341547.1:n.1381-52_1381-51insA
NM_001354619.2:c.1381-52_1381-51insA	NP_001341548.1:n.1381-52_1381-51insA
NM_001354620.2:c.1810-52_1810-51insA	NP_001341549.1:n.1810-52_1810-51insA
NM_001354621.2:c.1081-52_1081-51insA	NP_001341550.1:n.1081-52_1081-51insA
NM_001354622.2:c.1081-52_1081-51insA	NP_001341551.1:n.1081-52_1081-51insA
NM_001354623.2:c.1081-52_1081-51insA	NP_001341552.1:n.1081-52_1081-51insA
NM_001354624.2:c.1030-52_1030-51insA	NP_001341553.1:n.1030-52_1030-51insA
NM_001354625.2:c.1030-52_1030-51insA	NP_001341554.1:n.1030-52_1030-51insA
NM_001354626.2:c.1030-52_1030-51insA	NP_001341555.1:n.1030-52_1030-51insA
NM_001354627.2:c.1030-52_1030-51insA	NP_001341556.1:n.1030-52_1030-51insA
NM_001354628.2:c.2011-52_2011-51insA	NP_001341557.1:n.2011-52_2011-51insA
NM_001354629.2:c.2005-52_2005-51insA	NP_001341558.1:n.2005-52_2005-51insA
NM_001354630.2:c.1939-52_1939-51insA	NP_001341559.1:n.1939-52_1939-51insA