Canonical Allele Identifier: CA2580069409

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1756566
• ClinVar RCV Id: RCV002364748 ; RCV003454188 ; RCV003594235

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993616del , CM000665.2:g.36993616del	GRCh38
NC_000003.11:g.37035107del , CM000665.1:g.37035107del	GRCh37
NC_000003.10:g.37010111del	NCBI36
NG_007109.2:g.5267del , LRG_216:g.5267del
NG_008418.1:g.4690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.69del	ENSP00000416476.2:p.Val24LeufsTer12
ENST00000450420.6:c.69del	ENSP00000393006.2:p.Val24LeufsTer12
ENST00000456676.7:c.69del	ENSP00000416687.3:p.Val24LeufsTer12
ENST00000458009.6:c.69del	ENSP00000411066.2:p.Val24LeufsTer12
ENST00000616768.6:c.69del	ENSP00000480669.3:p.Val24LeufsTer12
ENST00000673673.2:c.69del	ENSP00000500979.2:p.Val24LeufsTer12
ENST00000231790.8:c.69del MANE Select	ENSP00000231790.3:p.Val24LeufsTer12
ENST00000432299.6:c.69del	ENSP00000416783.1:p.Val24LeufsTer12
ENST00000442249.6:n.84del
ENST00000673673.1:c.22del
ENST00000673713.1:n.100del
ENST00000673715.1:c.69del	ENSP00000501301.1:p.Val24LeufsTer12
ENST00000673897.1:c.69del	ENSP00000501109.1:p.Val24LeufsTer12
ENST00000673899.1:c.69del	ENSP00000501030.1:p.Val24LeufsTer12
ENST00000673947.1:c.69del	ENSP00000501304.1:p.Val24LeufsTer12
ENST00000673972.1:c.69del	ENSP00000501281.1:p.Val24LeufsTer12
ENST00000674111.1:c.69del	ENSP00000501162.1:p.Val24LeufsTer12
ENST00000231790.6:c.69del	ENSP00000231790.2:p.Val24LeufsTer12
ENST00000432299.5:c.69del	ENSP00000416783.1:p.Val24LeufsTer12
ENST00000442249.5:c.69del	ENSP00000387511.1:p.Val24LeufsTer12
ENST00000454028.5:c.69del	ENSP00000392649.1:p.Val24LeufsTer12
ENST00000456676.6:c.44del
ENST00000457004.5:c.69del	ENSP00000407773.1:p.Val24LeufsTer12
ENST00000536378.5:c.-564del	ENSP00000444286.2:n.-564del
NM_000249.3:c.69del , LRG_216t1:c.69del	NP_000240.1:p.Val24LeufsTer12
NM_001258271.1:c.69del	NP_001245200.1:p.Val24LeufsTer12
NM_001258273.1:c.-564del	NP_001245202.1:n.-564del
XM_005265161.1:c.69del	XP_005265218.1:p.Val24LeufsTer12
XM_005265164.1:c.-650del	XP_005265221.1:n.-650del
NM_001167617.2:c.-448del	NP_001161089.1:n.-448del
NM_001167618.2:c.-877del	NP_001161090.1:n.-877del
NM_001167619.2:c.-790del	NP_001161091.1:n.-790del
NM_001258274.2:c.-1027del	NP_001245203.1:n.-1027del
NM_001354615.1:c.-558del	NP_001341544.1:n.-558del
NM_001354616.1:c.-558del	NP_001341545.1:n.-558del
NM_001354617.1:c.-650del	NP_001341546.1:n.-650del
NM_001354618.1:c.-882del	NP_001341547.1:n.-882del
NM_001354619.1:c.-1006del	NP_001341548.1:n.-1006del
NM_001354620.1:c.-216del	NP_001341549.1:n.-216del
NM_001354621.1:c.-975del	NP_001341550.1:n.-975del
NM_001354622.1:c.-1088del	NP_001341551.1:n.-1088del
NM_001354623.1:c.-997del	NP_001341552.1:n.-997del
NM_001354624.1:c.-758del	NP_001341553.1:n.-758del
NM_001354625.1:c.-656del	NP_001341554.1:n.-656del
NM_001354626.1:c.-753del	NP_001341555.1:n.-753del
NM_001354627.1:c.-985del	NP_001341556.1:n.-985del
NM_001354628.1:c.69del	NP_001341557.1:p.Val24LeufsTer12
NM_001354629.1:c.69del	NP_001341558.1:p.Val24LeufsTer12
NM_001354630.1:c.69del	NP_001341559.1:p.Val24LeufsTer12
XM_005265161.2:c.69del	XP_005265218.1:p.Val24LeufsTer12
XM_017006450.2:c.-743del	XP_016861939.1:n.-743del
NM_000249.4:c.69del MANE Select	NP_000240.1:p.Val24LeufsTer12
NM_001167617.3:c.-448del	NP_001161089.1:n.-448del
NM_001167618.3:c.-877del	NP_001161090.1:n.-877del
NM_001167619.3:c.-790del	NP_001161091.1:n.-790del
NM_001258271.2:c.69del	NP_001245200.1:p.Val24LeufsTer12
NM_001258273.2:c.-564del	NP_001245202.1:n.-564del
NM_001258274.3:c.-1027del	NP_001245203.1:n.-1027del
NM_001354615.2:c.-558del	NP_001341544.1:n.-558del
NM_001354616.2:c.-558del	NP_001341545.1:n.-558del
NM_001354617.2:c.-650del	NP_001341546.1:n.-650del
NM_001354618.2:c.-882del	NP_001341547.1:n.-882del
NM_001354619.2:c.-1006del	NP_001341548.1:n.-1006del
NM_001354620.2:c.-216del	NP_001341549.1:n.-216del
NM_001354621.2:c.-975del	NP_001341550.1:n.-975del
NM_001354622.2:c.-1088del	NP_001341551.1:n.-1088del
NM_001354623.2:c.-997del	NP_001341552.1:n.-997del
NM_001354624.2:c.-758del	NP_001341553.1:n.-758del
NM_001354625.2:c.-656del	NP_001341554.1:n.-656del
NM_001354626.2:c.-753del	NP_001341555.1:n.-753del
NM_001354627.2:c.-985del	NP_001341556.1:n.-985del
NM_001354628.2:c.69del	NP_001341557.1:p.Val24LeufsTer12
NM_001354629.2:c.69del	NP_001341558.1:p.Val24LeufsTer12
NM_001354630.2:c.69del	NP_001341559.1:p.Val24LeufsTer12