Canonical Allele Identifier: CA916871503

Gene: MLH1

Linked Data

• dbSNP Id: rs1575640753

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050582_37050583insGGTG , CM000665.2:g.37050582_37050583insGGTG	GRCh38
NC_000003.11:g.37092073_37092074insGGTG , CM000665.1:g.37092073_37092074insGGTG	GRCh37
NC_000003.10:g.37067077_37067078insGGTG	NCBI36
NG_007109.2:g.62233_62234insGGTG , LRG_216:g.62233_62234insGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1764_1765insGGTG	ENSP00000416476.2:p.Ser589GlyfsTer25
ENST00000429117.6:c.1906_1907insGGTG	ENSP00000407019.2:p.Phe636TrpfsTer13
ENST00000456676.7:c.1993_1994insGGTG	ENSP00000416687.3:p.Phe665TrpfsTer13
ENST00000492474.6:c.1477_1478insGGTG	ENSP00000518393.1:p.Phe493TrpfsTer13
ENST00000616768.6:c.2107_2108insGGTG	ENSP00000480669.3:p.Phe703TrpfsTer13
ENST00000673673.2:c.2035_2036insGGTG	ENSP00000500979.2:p.Phe679TrpfsTer13
ENST00000231790.8:c.2200_2201insGGTG MANE Select	ENSP00000231790.3:p.Phe734TrpfsTer13
ENST00000413212.2:c.*1118_*1119insGGTG	ENSP00000400844.2:n.*1118_*1119insGGTG
ENST00000432299.6:c.*2032_*2033insGGTG	ENSP00000416783.1:n.*2032_*2033insGGTG
ENST00000447829.6:c.*1311_*1312insGGTG	ENSP00000399329.2:n.*1311_*1312insGGTG
ENST00000539477.6:c.1477_1478insGGTG	ENSP00000443665.1:p.Phe493TrpfsTer13
ENST00000616768.5:c.1144_1145insGGTG	ENSP00000480669.2:p.Phe382TrpfsTer13
ENST00000673673.1:c.1988_1989insGGTG
ENST00000673741.1:n.1234_1235insGGTG
ENST00000673889.1:n.1582_1583insGGTG
ENST00000673897.1:c.*1992_*1993insGGTG	ENSP00000501109.1:n.*1992_*1993insGGTG
ENST00000673899.1:c.1468_1469insGGTG	ENSP00000501030.1:p.Phe490TrpfsTer13
ENST00000673947.1:c.*2340_*2341insGGTG	ENSP00000501304.1:n.*2340_*2341insGGTG
ENST00000673972.1:c.*2078_*2079insGGTG	ENSP00000501281.1:n.*2078_*2079insGGTG
ENST00000674019.1:c.1477_1478insGGTG	ENSP00000501081.1:p.Phe493TrpfsTer13
ENST00000674111.1:c.*429_*430insGGTG	ENSP00000501162.1:n.*429_*430insGGTG
ENST00000674125.1:n.911_912insGGTG
ENST00000231790.6:c.2200_2201insGGTG	ENSP00000231790.2:p.Phe734TrpfsTer13
ENST00000435176.5:c.1906_1907insGGTG	ENSP00000402564.1:p.Phe636TrpfsTer13
ENST00000455445.6:c.1477_1478insGGTG	ENSP00000398272.2:p.Phe493TrpfsTer13
ENST00000456676.6:c.1968_1969insGGTG
ENST00000458205.6:c.1477_1478insGGTG	ENSP00000402667.2:p.Phe493TrpfsTer13
ENST00000536378.5:c.1477_1478insGGTG	ENSP00000444286.2:p.Phe493TrpfsTer13
ENST00000539477.5:c.1477_1478insGGTG	ENSP00000443665.1:p.Phe493TrpfsTer13
NM_000249.3:c.2200_2201insGGTG , LRG_216t1:c.2200_2201insGGTG	NP_000240.1:p.Phe734TrpfsTer13
NM_001167617.1:c.1906_1907insGGTG	NP_001161089.1:p.Phe636TrpfsTer13
NM_001167618.1:c.1477_1478insGGTG	NP_001161090.1:p.Phe493TrpfsTer13
NM_001167619.1:c.1477_1478insGGTG	NP_001161091.1:p.Phe493TrpfsTer13
NM_001258271.1:c.1993_1994insGGTG	NP_001245200.1:p.Phe665TrpfsTer13
NM_001258273.1:c.1477_1478insGGTG	NP_001245202.1:p.Phe493TrpfsTer13
NM_001258274.1:c.1477_1478insGGTG	NP_001245203.1:p.Phe493TrpfsTer13
XM_005265161.1:c.1993_1994insGGTG	XP_005265218.1:p.Phe665TrpfsTer13
XM_005265163.1:c.1477_1478insGGTG	XP_005265220.1:p.Phe493TrpfsTer13
XM_005265164.1:c.1477_1478insGGTG	XP_005265221.1:p.Phe493TrpfsTer13
XM_005265166.1:c.1177_1178insGGTG	XP_005265223.1:p.Phe393TrpfsTer13
XM_011533727.1:c.1126_1127insGGTG	XP_011532029.1:p.Phe376TrpfsTer13
NM_001167617.2:c.1906_1907insGGTG	NP_001161089.1:p.Phe636TrpfsTer13
NM_001167618.2:c.1477_1478insGGTG	NP_001161090.1:p.Phe493TrpfsTer13
NM_001167619.2:c.1477_1478insGGTG	NP_001161091.1:p.Phe493TrpfsTer13
NM_001258274.2:c.1477_1478insGGTG	NP_001245203.1:p.Phe493TrpfsTer13
NM_001354615.1:c.1477_1478insGGTG	NP_001341544.1:p.Phe493TrpfsTer13
NM_001354616.1:c.1477_1478insGGTG	NP_001341545.1:p.Phe493TrpfsTer13
NM_001354617.1:c.1477_1478insGGTG	NP_001341546.1:p.Phe493TrpfsTer13
NM_001354618.1:c.1477_1478insGGTG	NP_001341547.1:p.Phe493TrpfsTer13
NM_001354619.1:c.1477_1478insGGTG	NP_001341548.1:p.Phe493TrpfsTer13
NM_001354620.1:c.1906_1907insGGTG	NP_001341549.1:p.Phe636TrpfsTer13
NM_001354621.1:c.1177_1178insGGTG	NP_001341550.1:p.Phe393TrpfsTer13
NM_001354622.1:c.1177_1178insGGTG	NP_001341551.1:p.Phe393TrpfsTer13
NM_001354623.1:c.1177_1178insGGTG	NP_001341552.1:p.Phe393TrpfsTer13
NM_001354624.1:c.1126_1127insGGTG	NP_001341553.1:p.Phe376TrpfsTer13
NM_001354625.1:c.1126_1127insGGTG	NP_001341554.1:p.Phe376TrpfsTer13
NM_001354626.1:c.1126_1127insGGTG	NP_001341555.1:p.Phe376TrpfsTer13
NM_001354627.1:c.1126_1127insGGTG	NP_001341556.1:p.Phe376TrpfsTer13
NM_001354628.1:c.2107_2108insGGTG	NP_001341557.1:p.Phe703TrpfsTer13
NM_001354629.1:c.2101_2102insGGTG	NP_001341558.1:p.Phe701TrpfsTer13
NM_001354630.1:c.2035_2036insGGTG	NP_001341559.1:p.Phe679TrpfsTer13
XM_005265161.2:c.1993_1994insGGTG	XP_005265218.1:p.Phe665TrpfsTer13
XM_017006450.2:c.1177_1178insGGTG	XP_016861939.1:p.Phe393TrpfsTer13
NM_000249.4:c.2200_2201insGGTG MANE Select	NP_000240.1:p.Phe734TrpfsTer13
NM_001167617.3:c.1906_1907insGGTG	NP_001161089.1:p.Phe636TrpfsTer13
NM_001167618.3:c.1477_1478insGGTG	NP_001161090.1:p.Phe493TrpfsTer13
NM_001167619.3:c.1477_1478insGGTG	NP_001161091.1:p.Phe493TrpfsTer13
NM_001258271.2:c.1993_1994insGGTG	NP_001245200.1:p.Phe665TrpfsTer13
NM_001258273.2:c.1477_1478insGGTG	NP_001245202.1:p.Phe493TrpfsTer13
NM_001258274.3:c.1477_1478insGGTG	NP_001245203.1:p.Phe493TrpfsTer13
NM_001354615.2:c.1477_1478insGGTG	NP_001341544.1:p.Phe493TrpfsTer13
NM_001354616.2:c.1477_1478insGGTG	NP_001341545.1:p.Phe493TrpfsTer13
NM_001354617.2:c.1477_1478insGGTG	NP_001341546.1:p.Phe493TrpfsTer13
NM_001354618.2:c.1477_1478insGGTG	NP_001341547.1:p.Phe493TrpfsTer13
NM_001354619.2:c.1477_1478insGGTG	NP_001341548.1:p.Phe493TrpfsTer13
NM_001354620.2:c.1906_1907insGGTG	NP_001341549.1:p.Phe636TrpfsTer13
NM_001354621.2:c.1177_1178insGGTG	NP_001341550.1:p.Phe393TrpfsTer13
NM_001354622.2:c.1177_1178insGGTG	NP_001341551.1:p.Phe393TrpfsTer13
NM_001354623.2:c.1177_1178insGGTG	NP_001341552.1:p.Phe393TrpfsTer13
NM_001354624.2:c.1126_1127insGGTG	NP_001341553.1:p.Phe376TrpfsTer13
NM_001354625.2:c.1126_1127insGGTG	NP_001341554.1:p.Phe376TrpfsTer13
NM_001354626.2:c.1126_1127insGGTG	NP_001341555.1:p.Phe376TrpfsTer13
NM_001354627.2:c.1126_1127insGGTG	NP_001341556.1:p.Phe376TrpfsTer13
NM_001354628.2:c.2107_2108insGGTG	NP_001341557.1:p.Phe703TrpfsTer13
NM_001354629.2:c.2101_2102insGGTG	NP_001341558.1:p.Phe701TrpfsTer13
NM_001354630.2:c.2035_2036insGGTG	NP_001341559.1:p.Phe679TrpfsTer13