Canonical Allele Identifier: CA2580069603

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1788312
• ClinVar RCV Id: RCV002420194

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050626_37050631delinsG , CM000665.2:g.37050626_37050631delinsG	GRCh38
NC_000003.11:g.37092117_37092122delinsG , CM000665.1:g.37092117_37092122delinsG	GRCh37
NC_000003.10:g.37067121_37067126delinsG	NCBI36
NG_007109.2:g.62277_62282delinsG , LRG_216:g.62277_62282delinsG
NG_053016.1:g.131187_131192delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1808_1813delinsG	ENSP00000416476.2:p.Ile603SerfsTer8
ENST00000429117.6:c.1950_1955delinsG	ENSP00000407019.2:p.Asp650GlufsTer5
ENST00000456676.7:c.2037_2042delinsG	ENSP00000416687.3:p.Asp679GlufsTer5
ENST00000492474.6:c.1521_1526delinsG	ENSP00000518393.1:p.Asp507GlufsTer5
ENST00000616768.6:c.2151_2156delinsG	ENSP00000480669.3:p.Asp717GlufsTer5
ENST00000673673.2:c.2079_2084delinsG	ENSP00000500979.2:p.Asp693GlufsTer5
ENST00000231790.8:c.2244_2249delinsG MANE Select	ENSP00000231790.3:p.Asp748GlufsTer5
ENST00000413212.2:c.*1162_*1167delinsG	ENSP00000400844.2:n.*1162_*1167delinsG
ENST00000432299.6:c.*2076_*2081delinsG	ENSP00000416783.1:n.*2076_*2081delinsG
ENST00000447829.6:c.*1355_*1360delinsG	ENSP00000399329.2:n.*1355_*1360delinsG
ENST00000539477.6:c.1521_1526delinsG	ENSP00000443665.1:p.Asp507GlufsTer5
ENST00000616768.5:c.1188_1193delinsG	ENSP00000480669.2:p.Asp396GlufsTer5
ENST00000673673.1:c.2032_2037delinsG
ENST00000673741.1:n.1278_1283delinsG
ENST00000673889.1:n.1626_1631delinsG
ENST00000673897.1:c.*2036_*2041delinsG	ENSP00000501109.1:n.*2036_*2041delinsG
ENST00000673899.1:c.1512_1517delinsG	ENSP00000501030.1:p.Asp504GlufsTer5
ENST00000673947.1:c.*2384_*2389delinsG	ENSP00000501304.1:n.*2384_*2389delinsG
ENST00000673972.1:c.*2122_*2127delinsG	ENSP00000501281.1:n.*2122_*2127delinsG
ENST00000674019.1:c.1521_1526delinsG	ENSP00000501081.1:p.Asp507GlufsTer5
ENST00000674111.1:c.*473_*478delinsG	ENSP00000501162.1:n.*473_*478delinsG
ENST00000674125.1:n.955_960delinsG
ENST00000231790.6:c.2244_2249delinsG	ENSP00000231790.2:p.Asp748GlufsTer5
ENST00000435176.5:c.1950_1955delinsG	ENSP00000402564.1:p.Asp650GlufsTer5
ENST00000455445.6:c.1521_1526delinsG	ENSP00000398272.2:p.Asp507GlufsTer5
ENST00000456676.6:c.2012_2017delinsG
ENST00000458205.6:c.1521_1526delinsG	ENSP00000402667.2:p.Asp507GlufsTer5
ENST00000536378.5:c.1521_1526delinsG	ENSP00000444286.2:p.Asp507GlufsTer5
ENST00000539477.5:c.1521_1526delinsG	ENSP00000443665.1:p.Asp507GlufsTer5
NM_000249.3:c.2244_2249delinsG , LRG_216t1:c.2244_2249delinsG	NP_000240.1:p.Asp748GlufsTer5
NM_001167617.1:c.1950_1955delinsG	NP_001161089.1:p.Asp650GlufsTer5
NM_001167618.1:c.1521_1526delinsG	NP_001161090.1:p.Asp507GlufsTer5
NM_001167619.1:c.1521_1526delinsG	NP_001161091.1:p.Asp507GlufsTer5
NM_001258271.1:c.2037_2042delinsG	NP_001245200.1:p.Asp679GlufsTer5
NM_001258273.1:c.1521_1526delinsG	NP_001245202.1:p.Asp507GlufsTer5
NM_001258274.1:c.1521_1526delinsG	NP_001245203.1:p.Asp507GlufsTer5
XM_005265161.1:c.2037_2042delinsG	XP_005265218.1:p.Asp679GlufsTer5
XM_005265163.1:c.1521_1526delinsG	XP_005265220.1:p.Asp507GlufsTer5
XM_005265164.1:c.1521_1526delinsG	XP_005265221.1:p.Asp507GlufsTer5
XM_005265166.1:c.1221_1226delinsG	XP_005265223.1:p.Asp407GlufsTer5
XM_011533727.1:c.1170_1175delinsG	XP_011532029.1:p.Asp390GlufsTer5
NM_001167617.2:c.1950_1955delinsG	NP_001161089.1:p.Asp650GlufsTer5
NM_001167618.2:c.1521_1526delinsG	NP_001161090.1:p.Asp507GlufsTer5
NM_001167619.2:c.1521_1526delinsG	NP_001161091.1:p.Asp507GlufsTer5
NM_001258274.2:c.1521_1526delinsG	NP_001245203.1:p.Asp507GlufsTer5
NM_001354615.1:c.1521_1526delinsG	NP_001341544.1:p.Asp507GlufsTer5
NM_001354616.1:c.1521_1526delinsG	NP_001341545.1:p.Asp507GlufsTer5
NM_001354617.1:c.1521_1526delinsG	NP_001341546.1:p.Asp507GlufsTer5
NM_001354618.1:c.1521_1526delinsG	NP_001341547.1:p.Asp507GlufsTer5
NM_001354619.1:c.1521_1526delinsG	NP_001341548.1:p.Asp507GlufsTer5
NM_001354620.1:c.1950_1955delinsG	NP_001341549.1:p.Asp650GlufsTer5
NM_001354621.1:c.1221_1226delinsG	NP_001341550.1:p.Asp407GlufsTer5
NM_001354622.1:c.1221_1226delinsG	NP_001341551.1:p.Asp407GlufsTer5
NM_001354623.1:c.1221_1226delinsG	NP_001341552.1:p.Asp407GlufsTer5
NM_001354624.1:c.1170_1175delinsG	NP_001341553.1:p.Asp390GlufsTer5
NM_001354625.1:c.1170_1175delinsG	NP_001341554.1:p.Asp390GlufsTer5
NM_001354626.1:c.1170_1175delinsG	NP_001341555.1:p.Asp390GlufsTer5
NM_001354627.1:c.1170_1175delinsG	NP_001341556.1:p.Asp390GlufsTer5
NM_001354628.1:c.2151_2156delinsG	NP_001341557.1:p.Asp717GlufsTer5
NM_001354629.1:c.2145_2150delinsG	NP_001341558.1:p.Asp715GlufsTer5
NM_001354630.1:c.2079_2084delinsG	NP_001341559.1:p.Asp693GlufsTer5
XM_005265161.2:c.2037_2042delinsG	XP_005265218.1:p.Asp679GlufsTer5
XM_017006450.2:c.1221_1226delinsG	XP_016861939.1:p.Asp407GlufsTer5
NM_000249.4:c.2244_2249delinsG MANE Select	NP_000240.1:p.Asp748GlufsTer5
NM_001167617.3:c.1950_1955delinsG	NP_001161089.1:p.Asp650GlufsTer5
NM_001167618.3:c.1521_1526delinsG	NP_001161090.1:p.Asp507GlufsTer5
NM_001167619.3:c.1521_1526delinsG	NP_001161091.1:p.Asp507GlufsTer5
NM_001258271.2:c.2037_2042delinsG	NP_001245200.1:p.Asp679GlufsTer5
NM_001258273.2:c.1521_1526delinsG	NP_001245202.1:p.Asp507GlufsTer5
NM_001258274.3:c.1521_1526delinsG	NP_001245203.1:p.Asp507GlufsTer5
NM_001354615.2:c.1521_1526delinsG	NP_001341544.1:p.Asp507GlufsTer5
NM_001354616.2:c.1521_1526delinsG	NP_001341545.1:p.Asp507GlufsTer5
NM_001354617.2:c.1521_1526delinsG	NP_001341546.1:p.Asp507GlufsTer5
NM_001354618.2:c.1521_1526delinsG	NP_001341547.1:p.Asp507GlufsTer5
NM_001354619.2:c.1521_1526delinsG	NP_001341548.1:p.Asp507GlufsTer5
NM_001354620.2:c.1950_1955delinsG	NP_001341549.1:p.Asp650GlufsTer5
NM_001354621.2:c.1221_1226delinsG	NP_001341550.1:p.Asp407GlufsTer5
NM_001354622.2:c.1221_1226delinsG	NP_001341551.1:p.Asp407GlufsTer5
NM_001354623.2:c.1221_1226delinsG	NP_001341552.1:p.Asp407GlufsTer5
NM_001354624.2:c.1170_1175delinsG	NP_001341553.1:p.Asp390GlufsTer5
NM_001354625.2:c.1170_1175delinsG	NP_001341554.1:p.Asp390GlufsTer5
NM_001354626.2:c.1170_1175delinsG	NP_001341555.1:p.Asp390GlufsTer5
NM_001354627.2:c.1170_1175delinsG	NP_001341556.1:p.Asp390GlufsTer5
NM_001354628.2:c.2151_2156delinsG	NP_001341557.1:p.Asp717GlufsTer5
NM_001354629.2:c.2145_2150delinsG	NP_001341558.1:p.Asp715GlufsTer5
NM_001354630.2:c.2079_2084delinsG	NP_001341559.1:p.Asp693GlufsTer5