Canonical Allele Identifier: CA2825001201

Gene: MLH1

Linked Data

• ClinVar Variation Id: 3076114
• ClinVar RCV Id: RCV004018431

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993599_36993604dup , CM000665.2:g.36993599_36993604dup	GRCh38
NC_000003.11:g.37035090_37035095dup , CM000665.1:g.37035090_37035095dup	GRCh37
NC_000003.10:g.37010094_37010099dup	NCBI36
NG_007109.2:g.5250_5255dup , LRG_216:g.5250_5255dup
NG_008418.1:g.4702_4707dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.52_57dup	ENSP00000416476.2:p.Ile19_Ala20insArgIle
ENST00000450420.6:c.52_57dup	ENSP00000393006.2:p.Ile19_Ala20insArgIle
ENST00000456676.7:c.52_57dup	ENSP00000416687.3:p.Ile19_Ala20insArgIle
ENST00000458009.6:c.52_57dup	ENSP00000411066.2:p.Ile19_Ala20insArgIle
ENST00000616768.6:c.52_57dup	ENSP00000480669.3:p.Ile19_Ala20insArgIle
ENST00000673673.2:c.52_57dup	ENSP00000500979.2:p.Ile19_Ala20insArgIle
ENST00000231790.8:c.52_57dup MANE Select	ENSP00000231790.3:p.Ile19_Ala20insArgIle
ENST00000432299.6:c.52_57dup	ENSP00000416783.1:p.Ile19_Ala20insArgIle
ENST00000442249.6:n.67_72dup
ENST00000673673.1:c.5_10dup
ENST00000673713.1:n.83_88dup
ENST00000673715.1:c.52_57dup	ENSP00000501301.1:p.Ile19_Ala20insArgIle
ENST00000673897.1:c.52_57dup	ENSP00000501109.1:p.Ile19_Ala20insArgIle
ENST00000673899.1:c.52_57dup	ENSP00000501030.1:p.Ile19_Ala20insArgIle
ENST00000673947.1:c.52_57dup	ENSP00000501304.1:p.Ile19_Ala20insArgIle
ENST00000673972.1:c.52_57dup	ENSP00000501281.1:p.Ile19_Ala20insArgIle
ENST00000674111.1:c.52_57dup	ENSP00000501162.1:p.Ile19_Ala20insArgIle
ENST00000231790.6:c.52_57dup	ENSP00000231790.2:p.Ile19_Ala20insArgIle
ENST00000432299.5:c.52_57dup	ENSP00000416783.1:p.Ile19_Ala20insArgIle
ENST00000442249.5:c.52_57dup	ENSP00000387511.1:p.Ile19_Ala20insArgIle
ENST00000454028.5:c.52_57dup	ENSP00000392649.1:p.Ile19_Ala20insArgIle
ENST00000456676.6:c.27_32dup
ENST00000457004.5:c.52_57dup	ENSP00000407773.1:p.Ile19_Ala20insArgIle
ENST00000536378.5:c.-581_-576dup	ENSP00000444286.2:n.-581_-576dup
NM_000249.3:c.52_57dup , LRG_216t1:c.52_57dup	NP_000240.1:p.Ile19_Ala20insArgIle
NM_001258271.1:c.52_57dup	NP_001245200.1:p.Ile19_Ala20insArgIle
NM_001258273.1:c.-581_-576dup	NP_001245202.1:n.-581_-576dup
XM_005265161.1:c.52_57dup	XP_005265218.1:p.Ile19_Ala20insArgIle
XM_005265164.1:c.-667_-662dup	XP_005265221.1:n.-667_-662dup
NM_001167617.2:c.-465_-460dup	NP_001161089.1:n.-465_-460dup
NM_001167618.2:c.-894_-889dup	NP_001161090.1:n.-894_-889dup
NM_001167619.2:c.-807_-802dup	NP_001161091.1:n.-807_-802dup
NM_001258274.2:c.-1044_-1039dup	NP_001245203.1:n.-1044_-1039dup
NM_001354615.1:c.-575_-570dup	NP_001341544.1:n.-575_-570dup
NM_001354616.1:c.-575_-570dup	NP_001341545.1:n.-575_-570dup
NM_001354617.1:c.-667_-662dup	NP_001341546.1:n.-667_-662dup
NM_001354618.1:c.-899_-894dup	NP_001341547.1:n.-899_-894dup
NM_001354619.1:c.-1023_-1018dup	NP_001341548.1:n.-1023_-1018dup
NM_001354620.1:c.-233_-228dup	NP_001341549.1:n.-233_-228dup
NM_001354621.1:c.-992_-987dup	NP_001341550.1:n.-992_-987dup
NM_001354622.1:c.-1105_-1100dup	NP_001341551.1:n.-1105_-1100dup
NM_001354623.1:c.-1014_-1009dup	NP_001341552.1:n.-1014_-1009dup
NM_001354624.1:c.-775_-770dup	NP_001341553.1:n.-775_-770dup
NM_001354625.1:c.-673_-668dup	NP_001341554.1:n.-673_-668dup
NM_001354626.1:c.-770_-765dup	NP_001341555.1:n.-770_-765dup
NM_001354627.1:c.-1002_-997dup	NP_001341556.1:n.-1002_-997dup
NM_001354628.1:c.52_57dup	NP_001341557.1:p.Ile19_Ala20insArgIle
NM_001354629.1:c.52_57dup	NP_001341558.1:p.Ile19_Ala20insArgIle
NM_001354630.1:c.52_57dup	NP_001341559.1:p.Ile19_Ala20insArgIle
XM_005265161.2:c.52_57dup	XP_005265218.1:p.Ile19_Ala20insArgIle
XM_017006450.2:c.-760_-755dup	XP_016861939.1:n.-760_-755dup
NM_000249.4:c.52_57dup MANE Select	NP_000240.1:p.Ile19_Ala20insArgIle
NM_001167617.3:c.-465_-460dup	NP_001161089.1:n.-465_-460dup
NM_001167618.3:c.-894_-889dup	NP_001161090.1:n.-894_-889dup
NM_001167619.3:c.-807_-802dup	NP_001161091.1:n.-807_-802dup
NM_001258271.2:c.52_57dup	NP_001245200.1:p.Ile19_Ala20insArgIle
NM_001258273.2:c.-581_-576dup	NP_001245202.1:n.-581_-576dup
NM_001258274.3:c.-1044_-1039dup	NP_001245203.1:n.-1044_-1039dup
NM_001354615.2:c.-575_-570dup	NP_001341544.1:n.-575_-570dup
NM_001354616.2:c.-575_-570dup	NP_001341545.1:n.-575_-570dup
NM_001354617.2:c.-667_-662dup	NP_001341546.1:n.-667_-662dup
NM_001354618.2:c.-899_-894dup	NP_001341547.1:n.-899_-894dup
NM_001354619.2:c.-1023_-1018dup	NP_001341548.1:n.-1023_-1018dup
NM_001354620.2:c.-233_-228dup	NP_001341549.1:n.-233_-228dup
NM_001354621.2:c.-992_-987dup	NP_001341550.1:n.-992_-987dup
NM_001354622.2:c.-1105_-1100dup	NP_001341551.1:n.-1105_-1100dup
NM_001354623.2:c.-1014_-1009dup	NP_001341552.1:n.-1014_-1009dup
NM_001354624.2:c.-775_-770dup	NP_001341553.1:n.-775_-770dup
NM_001354625.2:c.-673_-668dup	NP_001341554.1:n.-673_-668dup
NM_001354626.2:c.-770_-765dup	NP_001341555.1:n.-770_-765dup
NM_001354627.2:c.-1002_-997dup	NP_001341556.1:n.-1002_-997dup
NM_001354628.2:c.52_57dup	NP_001341557.1:p.Ile19_Ala20insArgIle
NM_001354629.2:c.52_57dup	NP_001341558.1:p.Ile19_Ala20insArgIle
NM_001354630.2:c.52_57dup	NP_001341559.1:p.Ile19_Ala20insArgIle