Canonical Allele Identifier: CA011213

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90294
• ClinVar RCV Id: RCV000075783 ; RCV003584543
• dbSNP Id: rs63751637
• MyVariant Identifiers: chr3:g.37053510_37053511del (hg19) ; chr3:g.37012019_37012020del (hg38)
• PubMed: PMID:11385712 ; PMID:14970868

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37012019_37012020del , CM000665.2:g.37012019_37012020del	GRCh38
NC_000003.11:g.37053510_37053511del , CM000665.1:g.37053510_37053511del	GRCh37
NC_000003.10:g.37028514_37028515del	NCBI36
NG_007109.2:g.23670_23671del , LRG_216:g.23670_23671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.597_598del	ENSP00000416476.2:p.Glu199AspfsTer4
ENST00000429117.6:c.303_304del	ENSP00000407019.2:p.Glu101AspfsTer4
ENST00000450420.6:c.597_598del	ENSP00000393006.2:p.Glu199AspfsTer4
ENST00000456676.7:c.597_598del	ENSP00000416687.3:p.Glu199AspfsTer4
ENST00000458009.6:c.597_598del	ENSP00000411066.2:p.Glu199AspfsTer4
ENST00000492474.6:c.-127_-126del	ENSP00000518393.1:n.-127_-126del
ENST00000616768.6:c.597_598del	ENSP00000480669.3:p.Glu199AspfsTer4
ENST00000673673.2:c.597_598del	ENSP00000500979.2:p.Glu199AspfsTer4
ENST00000231790.8:c.597_598del MANE Select	ENSP00000231790.3:p.Glu199AspfsTer4
ENST00000413212.2:c.-127_-126del	ENSP00000400844.2:n.-127_-126del
ENST00000432299.6:c.*677_*678del	ENSP00000416783.1:n.*677_*678del
ENST00000441265.6:c.-127_-126del	ENSP00000398392.2:n.-127_-126del
ENST00000442249.6:n.612_613del
ENST00000447829.6:c.234_235del	ENSP00000399329.2:p.Glu78AspfsTer4
ENST00000539477.6:c.-127_-126del	ENSP00000443665.1:n.-127_-126del
ENST00000673673.1:c.550_551del
ENST00000673713.1:n.628_629del
ENST00000673715.1:c.597_598del	ENSP00000501301.1:p.Glu199AspfsTer4
ENST00000673897.1:c.*389_*390del	ENSP00000501109.1:n.*389_*390del
ENST00000673899.1:c.597_598del	ENSP00000501030.1:p.Glu199AspfsTer4
ENST00000673947.1:c.*737_*738del	ENSP00000501304.1:n.*737_*738del
ENST00000673972.1:c.*475_*476del	ENSP00000501281.1:n.*475_*476del
ENST00000673990.1:n.582_583del
ENST00000674019.1:c.-127_-126del	ENSP00000501081.1:n.-127_-126del
ENST00000674107.1:n.539_540del
ENST00000674111.1:c.597_598del	ENSP00000501162.1:p.Glu199AspfsTer4
ENST00000231790.6:c.597_598del	ENSP00000231790.2:p.Glu199AspfsTer4
ENST00000432299.5:c.*677_*678del	ENSP00000416783.1:n.*677_*678del
ENST00000435176.5:c.303_304del	ENSP00000402564.1:p.Glu101AspfsTer4
ENST00000441265.5:c.-127_-126del	ENSP00000398392.1:n.-127_-126del
ENST00000442249.5:c.*389_*390del	ENSP00000387511.1:n.*389_*390del
ENST00000455445.6:c.-127_-126del	ENSP00000398272.2:n.-127_-126del
ENST00000456676.6:c.572_573del
ENST00000457004.5:c.*376_*377del	ENSP00000407773.1:n.*376_*377del
ENST00000458205.6:c.-127_-126del	ENSP00000402667.2:n.-127_-126del
ENST00000536378.5:c.-127_-126del	ENSP00000444286.2:n.-127_-126del
ENST00000539477.5:c.-127_-126del	ENSP00000443665.1:n.-127_-126del
NM_000249.3:c.597_598del , LRG_216t1:c.597_598del	NP_000240.1:p.Glu199AspfsTer4
NM_001167617.1:c.303_304del	NP_001161089.1:p.Glu101AspfsTer4
NM_001167618.1:c.-127_-126del	NP_001161090.1:n.-127_-126del
NM_001167619.1:c.-127_-126del	NP_001161091.1:n.-127_-126del
NM_001258271.1:c.597_598del	NP_001245200.1:p.Glu199AspfsTer4
NM_001258273.1:c.-127_-126del	NP_001245202.1:n.-127_-126del
NM_001258274.1:c.-127_-126del	NP_001245203.1:n.-127_-126del
XM_005265161.1:c.597_598del	XP_005265218.1:p.Glu199AspfsTer4
XM_005265163.1:c.-127_-126del	XP_005265220.1:n.-127_-126del
XM_005265164.1:c.-127_-126del	XP_005265221.1:n.-127_-126del
XM_005265166.1:c.-333_-332del	XP_005265223.1:n.-333_-332del
XM_011533727.1:c.-230_-229del	XP_011532029.1:n.-230_-229del
NM_001167617.2:c.303_304del	NP_001161089.1:p.Glu101AspfsTer4
NM_001167618.2:c.-127_-126del	NP_001161090.1:n.-127_-126del
NM_001167619.2:c.-127_-126del	NP_001161091.1:n.-127_-126del
NM_001258274.2:c.-127_-126del	NP_001245203.1:n.-127_-126del
NM_001354615.1:c.-127_-126del	NP_001341544.1:n.-127_-126del
NM_001354616.1:c.-127_-126del	NP_001341545.1:n.-127_-126del
NM_001354617.1:c.-127_-126del	NP_001341546.1:n.-127_-126del
NM_001354618.1:c.-127_-126del	NP_001341547.1:n.-127_-126del
NM_001354619.1:c.-127_-126del	NP_001341548.1:n.-127_-126del
NM_001354620.1:c.303_304del	NP_001341549.1:p.Glu101AspfsTer4
NM_001354621.1:c.-220_-219del	NP_001341550.1:n.-220_-219del
NM_001354622.1:c.-333_-332del	NP_001341551.1:n.-333_-332del
NM_001354623.1:c.-333_-332del	NP_001341552.1:n.-333_-332del
NM_001354624.1:c.-230_-229del	NP_001341553.1:n.-230_-229del
NM_001354625.1:c.-230_-229del	NP_001341554.1:n.-230_-229del
NM_001354626.1:c.-230_-229del	NP_001341555.1:n.-230_-229del
NM_001354627.1:c.-230_-229del	NP_001341556.1:n.-230_-229del
NM_001354628.1:c.597_598del	NP_001341557.1:p.Glu199AspfsTer4
NM_001354629.1:c.498_499del	NP_001341558.1:p.Glu166AspfsTer4
NM_001354630.1:c.597_598del	NP_001341559.1:p.Glu199AspfsTer4
XM_005265161.2:c.597_598del	XP_005265218.1:p.Glu199AspfsTer4
XM_017006450.2:c.-220_-219del	XP_016861939.1:n.-220_-219del
NM_000249.4:c.597_598del MANE Select	NP_000240.1:p.Glu199AspfsTer4
NM_001167617.3:c.303_304del	NP_001161089.1:p.Glu101AspfsTer4
NM_001167618.3:c.-127_-126del	NP_001161090.1:n.-127_-126del
NM_001167619.3:c.-127_-126del	NP_001161091.1:n.-127_-126del
NM_001258271.2:c.597_598del	NP_001245200.1:p.Glu199AspfsTer4
NM_001258273.2:c.-127_-126del	NP_001245202.1:n.-127_-126del
NM_001258274.3:c.-127_-126del	NP_001245203.1:n.-127_-126del
NM_001354615.2:c.-127_-126del	NP_001341544.1:n.-127_-126del
NM_001354616.2:c.-127_-126del	NP_001341545.1:n.-127_-126del
NM_001354617.2:c.-127_-126del	NP_001341546.1:n.-127_-126del
NM_001354618.2:c.-127_-126del	NP_001341547.1:n.-127_-126del
NM_001354619.2:c.-127_-126del	NP_001341548.1:n.-127_-126del
NM_001354620.2:c.303_304del	NP_001341549.1:p.Glu101AspfsTer4
NM_001354621.2:c.-220_-219del	NP_001341550.1:n.-220_-219del
NM_001354622.2:c.-333_-332del	NP_001341551.1:n.-333_-332del
NM_001354623.2:c.-333_-332del	NP_001341552.1:n.-333_-332del
NM_001354624.2:c.-230_-229del	NP_001341553.1:n.-230_-229del
NM_001354625.2:c.-230_-229del	NP_001341554.1:n.-230_-229del
NM_001354626.2:c.-230_-229del	NP_001341555.1:n.-230_-229del
NM_001354627.2:c.-230_-229del	NP_001341556.1:n.-230_-229del
NM_001354628.2:c.597_598del	NP_001341557.1:p.Glu199AspfsTer4
NM_001354629.2:c.498_499del	NP_001341558.1:p.Glu166AspfsTer4
NM_001354630.2:c.597_598del	NP_001341559.1:p.Glu199AspfsTer4