Canonical Allele Identifier: CA16617879

Gene: MLH1

Linked Data

• ClinVar Variation Id: 421747
• ClinVar RCV Id: RCV003449217
• dbSNP Id: rs1064795341
• MyVariant Identifiers: chr3:g.37035047_37035059del (hg19) ; chr3:g.36993556_36993568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993556_36993568del , CM000665.2:g.36993556_36993568del	GRCh38
NC_000003.11:g.37035047_37035059del , CM000665.1:g.37035047_37035059del	GRCh37
NC_000003.10:g.37010051_37010063del	NCBI36
NG_007109.2:g.5207_5219del , LRG_216:g.5207_5219del
NG_008418.1:g.4740_4752del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.9_21del	ENSP00000416476.2:p.Phe3LeufsTer10
ENST00000450420.6:c.9_21del	ENSP00000393006.2:p.Phe3LeufsTer10
ENST00000456676.7:c.9_21del	ENSP00000416687.3:p.Phe3LeufsTer10
ENST00000458009.6:c.9_21del	ENSP00000411066.2:p.Phe3LeufsTer10
ENST00000616768.6:c.9_21del	ENSP00000480669.3:p.Phe3LeufsTer10
ENST00000673673.2:c.9_21del	ENSP00000500979.2:p.Phe3LeufsTer10
ENST00000231790.8:c.9_21del MANE Select	ENSP00000231790.3:p.Phe3LeufsTer10
ENST00000432299.6:c.9_21del	ENSP00000416783.1:p.Phe3LeufsTer10
ENST00000442249.6:n.24_36del
ENST00000673713.1:n.40_52del
ENST00000673715.1:c.9_21del	ENSP00000501301.1:p.Phe3LeufsTer10
ENST00000673897.1:c.9_21del	ENSP00000501109.1:p.Phe3LeufsTer10
ENST00000673899.1:c.9_21del	ENSP00000501030.1:p.Phe3LeufsTer10
ENST00000673947.1:c.9_21del	ENSP00000501304.1:p.Phe3LeufsTer10
ENST00000673972.1:c.9_21del	ENSP00000501281.1:p.Phe3LeufsTer10
ENST00000674111.1:c.9_21del	ENSP00000501162.1:p.Phe3LeufsTer10
ENST00000231790.6:c.9_21del	ENSP00000231790.2:p.Phe3LeufsTer10
ENST00000432299.5:c.9_21del	ENSP00000416783.1:p.Phe3LeufsTer10
ENST00000442249.5:c.9_21del	ENSP00000387511.1:p.Phe3LeufsTer10
ENST00000454028.5:c.9_21del	ENSP00000392649.1:p.Phe3LeufsTer10
ENST00000457004.5:c.9_21del	ENSP00000407773.1:p.Phe3LeufsTer10
ENST00000536378.5:c.-624_-612del	ENSP00000444286.2:n.-624_-612del
NM_000249.3:c.9_21del , LRG_216t1:c.9_21del	NP_000240.1:p.Phe3LeufsTer10
NM_001258271.1:c.9_21del	NP_001245200.1:p.Phe3LeufsTer10
NM_001258273.1:c.-624_-612del	NP_001245202.1:n.-624_-612del
XM_005265161.1:c.9_21del	XP_005265218.1:p.Phe3LeufsTer10
XM_005265164.1:c.-710_-698del	XP_005265221.1:n.-710_-698del
NM_001167617.2:c.-508_-496del	NP_001161089.1:n.-508_-496del
NM_001167618.2:c.-937_-925del	NP_001161090.1:n.-937_-925del
NM_001167619.2:c.-850_-838del	NP_001161091.1:n.-850_-838del
NM_001258274.2:c.-1087_-1075del	NP_001245203.1:n.-1087_-1075del
NM_001354615.1:c.-618_-606del	NP_001341544.1:n.-618_-606del
NM_001354616.1:c.-618_-606del	NP_001341545.1:n.-618_-606del
NM_001354617.1:c.-710_-698del	NP_001341546.1:n.-710_-698del
NM_001354618.1:c.-942_-930del	NP_001341547.1:n.-942_-930del
NM_001354619.1:c.-1066_-1054del	NP_001341548.1:n.-1066_-1054del
NM_001354620.1:c.-276_-264del	NP_001341549.1:n.-276_-264del
NM_001354621.1:c.-1035_-1023del	NP_001341550.1:n.-1035_-1023del
NM_001354622.1:c.-1148_-1136del	NP_001341551.1:n.-1148_-1136del
NM_001354623.1:c.-1057_-1045del	NP_001341552.1:n.-1057_-1045del
NM_001354624.1:c.-818_-806del	NP_001341553.1:n.-818_-806del
NM_001354625.1:c.-716_-704del	NP_001341554.1:n.-716_-704del
NM_001354626.1:c.-813_-801del	NP_001341555.1:n.-813_-801del
NM_001354627.1:c.-1045_-1033del	NP_001341556.1:n.-1045_-1033del
NM_001354628.1:c.9_21del	NP_001341557.1:p.Phe3LeufsTer10
NM_001354629.1:c.9_21del	NP_001341558.1:p.Phe3LeufsTer10
NM_001354630.1:c.9_21del	NP_001341559.1:p.Phe3LeufsTer10
XM_005265161.2:c.9_21del	XP_005265218.1:p.Phe3LeufsTer10
XM_017006450.2:c.-803_-791del	XP_016861939.1:n.-803_-791del
NM_000249.4:c.9_21del MANE Select	NP_000240.1:p.Phe3LeufsTer10
NM_001167617.3:c.-508_-496del	NP_001161089.1:n.-508_-496del
NM_001167618.3:c.-937_-925del	NP_001161090.1:n.-937_-925del
NM_001167619.3:c.-850_-838del	NP_001161091.1:n.-850_-838del
NM_001258271.2:c.9_21del	NP_001245200.1:p.Phe3LeufsTer10
NM_001258273.2:c.-624_-612del	NP_001245202.1:n.-624_-612del
NM_001258274.3:c.-1087_-1075del	NP_001245203.1:n.-1087_-1075del
NM_001354615.2:c.-618_-606del	NP_001341544.1:n.-618_-606del
NM_001354616.2:c.-618_-606del	NP_001341545.1:n.-618_-606del
NM_001354617.2:c.-710_-698del	NP_001341546.1:n.-710_-698del
NM_001354618.2:c.-942_-930del	NP_001341547.1:n.-942_-930del
NM_001354619.2:c.-1066_-1054del	NP_001341548.1:n.-1066_-1054del
NM_001354620.2:c.-276_-264del	NP_001341549.1:n.-276_-264del
NM_001354621.2:c.-1035_-1023del	NP_001341550.1:n.-1035_-1023del
NM_001354622.2:c.-1148_-1136del	NP_001341551.1:n.-1148_-1136del
NM_001354623.2:c.-1057_-1045del	NP_001341552.1:n.-1057_-1045del
NM_001354624.2:c.-818_-806del	NP_001341553.1:n.-818_-806del
NM_001354625.2:c.-716_-704del	NP_001341554.1:n.-716_-704del
NM_001354626.2:c.-813_-801del	NP_001341555.1:n.-813_-801del
NM_001354627.2:c.-1045_-1033del	NP_001341556.1:n.-1045_-1033del
NM_001354628.2:c.9_21del	NP_001341557.1:p.Phe3LeufsTer10
NM_001354629.2:c.9_21del	NP_001341558.1:p.Phe3LeufsTer10
NM_001354630.2:c.9_21del	NP_001341559.1:p.Phe3LeufsTer10