Canonical Allele Identifier: CA011147

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90287
• ClinVar RCV Id: RCV000075776 ; RCV000570709 ; RCV001249995 ; RCV001353672 ; RCV001382873
• dbSNP Id: rs63751653
• gnomAD v2: 3-37053347-TA-T
• gnomAD v4: 3-37011856-TA-T
• COSMIC: COSM330645 ; COSM1422583
• MyVariant Identifiers: chr3:g.37053353del (hg19) ; chr3:g.37053348del (hg19) ; chr3:g.37011862del (hg38) ; chr3:g.37011857del (hg38)
• PubMed: PMID:12624141 ; PMID:21642682 ; PMID:25117503 ; PMID:26202870

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37011862del , CM000665.2:g.37011862del	GRCh38
NC_000003.11:g.37053353del , CM000665.1:g.37053353del	GRCh37
NC_000003.10:g.37028357del	NCBI36
NG_007109.2:g.23513del , LRG_216:g.23513del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.588del	ENSP00000416476.2:p.Lys196AsnfsTer6
ENST00000429117.6:c.294del	ENSP00000407019.2:p.Lys98AsnfsTer6
ENST00000450420.6:c.588del	ENSP00000393006.2:p.Lys196AsnfsTer6
ENST00000456676.7:c.588del	ENSP00000416687.3:p.Lys196AsnfsTer6
ENST00000458009.6:c.588del	ENSP00000411066.2:p.Lys196AsnfsTer6
ENST00000492474.6:c.-136del	ENSP00000518393.1:n.-136del
ENST00000616768.6:c.588del	ENSP00000480669.3:p.Lys196AsnfsTer6
ENST00000673673.2:c.588del	ENSP00000500979.2:p.Lys196AsnfsTer6
ENST00000231790.8:c.588del MANE Select	ENSP00000231790.3:p.Lys196AsnfsTer6
ENST00000413212.2:c.-136del	ENSP00000400844.2:n.-136del
ENST00000432299.6:c.*668del	ENSP00000416783.1:n.*668del
ENST00000441265.6:c.-136del	ENSP00000398392.2:n.-136del
ENST00000442249.6:n.603del
ENST00000447829.6:c.225del	ENSP00000399329.2:p.Lys75AsnfsTer6
ENST00000539477.6:c.-136del	ENSP00000443665.1:n.-136del
ENST00000673673.1:c.541del
ENST00000673713.1:n.619del
ENST00000673715.1:c.588del	ENSP00000501301.1:p.Lys196AsnfsTer6
ENST00000673897.1:c.*380del	ENSP00000501109.1:n.*380del
ENST00000673899.1:c.588del	ENSP00000501030.1:p.Lys196AsnfsTer6
ENST00000673947.1:c.*728del	ENSP00000501304.1:n.*728del
ENST00000673972.1:c.*466del	ENSP00000501281.1:n.*466del
ENST00000673990.1:n.573del
ENST00000674019.1:c.-136del	ENSP00000501081.1:n.-136del
ENST00000674107.1:n.530del
ENST00000674111.1:c.588del	ENSP00000501162.1:p.Lys196AsnfsTer6
ENST00000231790.6:c.588del	ENSP00000231790.2:p.Lys196AsnfsTer6
ENST00000432299.5:c.*668del	ENSP00000416783.1:n.*668del
ENST00000435176.5:c.294del	ENSP00000402564.1:p.Lys98AsnfsTer6
ENST00000441265.5:c.-136del	ENSP00000398392.1:n.-136del
ENST00000442249.5:c.*380del	ENSP00000387511.1:n.*380del
ENST00000455445.6:c.-136del	ENSP00000398272.2:n.-136del
ENST00000456676.6:c.563del
ENST00000457004.5:c.*367del	ENSP00000407773.1:n.*367del
ENST00000458205.6:c.-136del	ENSP00000402667.2:n.-136del
ENST00000536378.5:c.-136del	ENSP00000444286.2:n.-136del
ENST00000539477.5:c.-136del	ENSP00000443665.1:n.-136del
NM_000249.3:c.588del , LRG_216t1:c.588del	NP_000240.1:p.Lys196AsnfsTer6
NM_001167617.1:c.294del	NP_001161089.1:p.Lys98AsnfsTer6
NM_001167618.1:c.-136del	NP_001161090.1:n.-136del
NM_001167619.1:c.-136del	NP_001161091.1:n.-136del
NM_001258271.1:c.588del	NP_001245200.1:p.Lys196AsnfsTer6
NM_001258273.1:c.-136del	NP_001245202.1:n.-136del
NM_001258274.1:c.-136del	NP_001245203.1:n.-136del
XM_005265161.1:c.588del	XP_005265218.1:p.Lys196AsnfsTer6
XM_005265163.1:c.-136del	XP_005265220.1:n.-136del
XM_005265164.1:c.-136del	XP_005265221.1:n.-136del
XM_005265166.1:c.-342del	XP_005265223.1:n.-342del
XM_011533727.1:c.-239del	XP_011532029.1:n.-239del
NM_001167617.2:c.294del	NP_001161089.1:p.Lys98AsnfsTer6
NM_001167618.2:c.-136del	NP_001161090.1:n.-136del
NM_001167619.2:c.-136del	NP_001161091.1:n.-136del
NM_001258274.2:c.-136del	NP_001245203.1:n.-136del
NM_001354615.1:c.-136del	NP_001341544.1:n.-136del
NM_001354616.1:c.-136del	NP_001341545.1:n.-136del
NM_001354617.1:c.-136del	NP_001341546.1:n.-136del
NM_001354618.1:c.-136del	NP_001341547.1:n.-136del
NM_001354619.1:c.-136del	NP_001341548.1:n.-136del
NM_001354620.1:c.294del	NP_001341549.1:p.Lys98AsnfsTer6
NM_001354621.1:c.-229del	NP_001341550.1:n.-229del
NM_001354622.1:c.-342del	NP_001341551.1:n.-342del
NM_001354623.1:c.-342del	NP_001341552.1:n.-342del
NM_001354624.1:c.-239del	NP_001341553.1:n.-239del
NM_001354625.1:c.-239del	NP_001341554.1:n.-239del
NM_001354626.1:c.-239del	NP_001341555.1:n.-239del
NM_001354627.1:c.-239del	NP_001341556.1:n.-239del
NM_001354628.1:c.588del	NP_001341557.1:p.Lys196AsnfsTer6
NM_001354629.1:c.489del	NP_001341558.1:p.Lys163AsnfsTer6
NM_001354630.1:c.588del	NP_001341559.1:p.Lys196AsnfsTer6
XM_005265161.2:c.588del	XP_005265218.1:p.Lys196AsnfsTer6
XM_017006450.2:c.-229del	XP_016861939.1:n.-229del
NM_000249.4:c.588del MANE Select	NP_000240.1:p.Lys196AsnfsTer6
NM_001167617.3:c.294del	NP_001161089.1:p.Lys98AsnfsTer6
NM_001167618.3:c.-136del	NP_001161090.1:n.-136del
NM_001167619.3:c.-136del	NP_001161091.1:n.-136del
NM_001258271.2:c.588del	NP_001245200.1:p.Lys196AsnfsTer6
NM_001258273.2:c.-136del	NP_001245202.1:n.-136del
NM_001258274.3:c.-136del	NP_001245203.1:n.-136del
NM_001354615.2:c.-136del	NP_001341544.1:n.-136del
NM_001354616.2:c.-136del	NP_001341545.1:n.-136del
NM_001354617.2:c.-136del	NP_001341546.1:n.-136del
NM_001354618.2:c.-136del	NP_001341547.1:n.-136del
NM_001354619.2:c.-136del	NP_001341548.1:n.-136del
NM_001354620.2:c.294del	NP_001341549.1:p.Lys98AsnfsTer6
NM_001354621.2:c.-229del	NP_001341550.1:n.-229del
NM_001354622.2:c.-342del	NP_001341551.1:n.-342del
NM_001354623.2:c.-342del	NP_001341552.1:n.-342del
NM_001354624.2:c.-239del	NP_001341553.1:n.-239del
NM_001354625.2:c.-239del	NP_001341554.1:n.-239del
NM_001354626.2:c.-239del	NP_001341555.1:n.-239del
NM_001354627.2:c.-239del	NP_001341556.1:n.-239del
NM_001354628.2:c.588del	NP_001341557.1:p.Lys196AsnfsTer6
NM_001354629.2:c.489del	NP_001341558.1:p.Lys163AsnfsTer6
NM_001354630.2:c.588del	NP_001341559.1:p.Lys196AsnfsTer6