Canonical Allele Identifier: CA009781

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90166
• ClinVar RCV Id: RCV000075653 ; RCV001045287 ; RCV002321563 ; RCV003451133
• dbSNP Id: rs63749816
• MyVariant Identifiers: chr3:g.37035069del (hg19) ; chr3:g.36993578del (hg38)
• PubMed: PMID:17203532 ; PMID:17230646

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993578del , CM000665.2:g.36993578del	GRCh38
NC_000003.11:g.37035069del , CM000665.1:g.37035069del	GRCh37
NC_000003.10:g.37010073del	NCBI36
NG_007109.2:g.5229del , LRG_216:g.5229del
NG_008418.1:g.4727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.31del	ENSP00000416476.2:p.Leu11TrpfsTer6
ENST00000450420.6:c.31del	ENSP00000393006.2:p.Leu11TrpfsTer6
ENST00000456676.7:c.31del	ENSP00000416687.3:p.Leu11TrpfsTer6
ENST00000458009.6:c.31del	ENSP00000411066.2:p.Leu11TrpfsTer6
ENST00000616768.6:c.31del	ENSP00000480669.3:p.Leu11TrpfsTer6
ENST00000673673.2:c.31del	ENSP00000500979.2:p.Leu11TrpfsTer6
ENST00000231790.8:c.31del MANE Select	ENSP00000231790.3:p.Leu11TrpfsTer6
ENST00000432299.6:c.31del	ENSP00000416783.1:p.Leu11TrpfsTer6
ENST00000442249.6:n.46del
ENST00000673713.1:n.62del
ENST00000673715.1:c.31del	ENSP00000501301.1:p.Leu11TrpfsTer6
ENST00000673897.1:c.31del	ENSP00000501109.1:p.Leu11TrpfsTer6
ENST00000673899.1:c.31del	ENSP00000501030.1:p.Leu11TrpfsTer6
ENST00000673947.1:c.31del	ENSP00000501304.1:p.Leu11TrpfsTer6
ENST00000673972.1:c.31del	ENSP00000501281.1:p.Leu11TrpfsTer6
ENST00000674111.1:c.31del	ENSP00000501162.1:p.Leu11TrpfsTer6
ENST00000231790.6:c.31del	ENSP00000231790.2:p.Leu11TrpfsTer6
ENST00000432299.5:c.31del	ENSP00000416783.1:p.Leu11TrpfsTer6
ENST00000442249.5:c.31del	ENSP00000387511.1:p.Leu11TrpfsTer6
ENST00000454028.5:c.31del	ENSP00000392649.1:p.Leu11TrpfsTer6
ENST00000456676.6:c.6del
ENST00000457004.5:c.31del	ENSP00000407773.1:p.Leu11TrpfsTer6
ENST00000536378.5:c.-602del	ENSP00000444286.2:n.-602del
NM_000249.3:c.31del , LRG_216t1:c.31del	NP_000240.1:p.Leu11TrpfsTer6
NM_001258271.1:c.31del	NP_001245200.1:p.Leu11TrpfsTer6
NM_001258273.1:c.-602del	NP_001245202.1:n.-602del
XM_005265161.1:c.31del	XP_005265218.1:p.Leu11TrpfsTer6
XM_005265164.1:c.-688del	XP_005265221.1:n.-688del
NM_001167617.2:c.-486del	NP_001161089.1:n.-486del
NM_001167618.2:c.-915del	NP_001161090.1:n.-915del
NM_001167619.2:c.-828del	NP_001161091.1:n.-828del
NM_001258274.2:c.-1065del	NP_001245203.1:n.-1065del
NM_001354615.1:c.-596del	NP_001341544.1:n.-596del
NM_001354616.1:c.-596del	NP_001341545.1:n.-596del
NM_001354617.1:c.-688del	NP_001341546.1:n.-688del
NM_001354618.1:c.-920del	NP_001341547.1:n.-920del
NM_001354619.1:c.-1044del	NP_001341548.1:n.-1044del
NM_001354620.1:c.-254del	NP_001341549.1:n.-254del
NM_001354621.1:c.-1013del	NP_001341550.1:n.-1013del
NM_001354622.1:c.-1126del	NP_001341551.1:n.-1126del
NM_001354623.1:c.-1035del	NP_001341552.1:n.-1035del
NM_001354624.1:c.-796del	NP_001341553.1:n.-796del
NM_001354625.1:c.-694del	NP_001341554.1:n.-694del
NM_001354626.1:c.-791del	NP_001341555.1:n.-791del
NM_001354627.1:c.-1023del	NP_001341556.1:n.-1023del
NM_001354628.1:c.31del	NP_001341557.1:p.Leu11TrpfsTer6
NM_001354629.1:c.31del	NP_001341558.1:p.Leu11TrpfsTer6
NM_001354630.1:c.31del	NP_001341559.1:p.Leu11TrpfsTer6
XM_005265161.2:c.31del	XP_005265218.1:p.Leu11TrpfsTer6
XM_017006450.2:c.-781del	XP_016861939.1:n.-781del
NM_000249.4:c.31del MANE Select	NP_000240.1:p.Leu11TrpfsTer6
NM_001167617.3:c.-486del	NP_001161089.1:n.-486del
NM_001167618.3:c.-915del	NP_001161090.1:n.-915del
NM_001167619.3:c.-828del	NP_001161091.1:n.-828del
NM_001258271.2:c.31del	NP_001245200.1:p.Leu11TrpfsTer6
NM_001258273.2:c.-602del	NP_001245202.1:n.-602del
NM_001258274.3:c.-1065del	NP_001245203.1:n.-1065del
NM_001354615.2:c.-596del	NP_001341544.1:n.-596del
NM_001354616.2:c.-596del	NP_001341545.1:n.-596del
NM_001354617.2:c.-688del	NP_001341546.1:n.-688del
NM_001354618.2:c.-920del	NP_001341547.1:n.-920del
NM_001354619.2:c.-1044del	NP_001341548.1:n.-1044del
NM_001354620.2:c.-254del	NP_001341549.1:n.-254del
NM_001354621.2:c.-1013del	NP_001341550.1:n.-1013del
NM_001354622.2:c.-1126del	NP_001341551.1:n.-1126del
NM_001354623.2:c.-1035del	NP_001341552.1:n.-1035del
NM_001354624.2:c.-796del	NP_001341553.1:n.-796del
NM_001354625.2:c.-694del	NP_001341554.1:n.-694del
NM_001354626.2:c.-791del	NP_001341555.1:n.-791del
NM_001354627.2:c.-1023del	NP_001341556.1:n.-1023del
NM_001354628.2:c.31del	NP_001341557.1:p.Leu11TrpfsTer6
NM_001354629.2:c.31del	NP_001341558.1:p.Leu11TrpfsTer6
NM_001354630.2:c.31del	NP_001341559.1:p.Leu11TrpfsTer6