Canonical Allele Identifier: CA1139656170

Gene: MLH1

Linked Data

• ClinVar Variation Id: 970812
• ClinVar RCV Id: RCV001246456
• dbSNP Id: rs2080909702

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993658del , CM000665.2:g.36993658del	GRCh38
NC_000003.11:g.37035149del , CM000665.1:g.37035149del	GRCh37
NC_000003.10:g.37010153del	NCBI36
NG_007109.2:g.5309del , LRG_216:g.5309del
NG_008418.1:g.4647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.111del	ENSP00000416476.2:p.Asn38ThrfsTer3
ENST00000450420.6:c.111del	ENSP00000393006.2:p.Asn38ThrfsTer3
ENST00000456676.7:c.111del	ENSP00000416687.3:p.Asn38ThrfsTer3
ENST00000458009.6:c.111del	ENSP00000411066.2:p.Asn38ThrfsTer3
ENST00000616768.6:c.111del	ENSP00000480669.3:p.Asn38ThrfsTer3
ENST00000673673.2:c.111del	ENSP00000500979.2:p.Asn38ThrfsTer3
ENST00000231790.8:c.111del MANE Select	ENSP00000231790.3:p.Asn38ThrfsTer3
ENST00000432299.6:c.111del	ENSP00000416783.1:p.Asn38ThrfsTer?
ENST00000442249.6:n.126del
ENST00000673673.1:c.64del
ENST00000673713.1:n.142del
ENST00000673715.1:c.111del	ENSP00000501301.1:p.Asn38ThrfsTer3
ENST00000673897.1:c.111del	ENSP00000501109.1:p.Asn38ThrfsTer10
ENST00000673899.1:c.111del	ENSP00000501030.1:p.Asn38ThrfsTer3
ENST00000673947.1:c.111del	ENSP00000501304.1:p.Asn38ThrfsTer16
ENST00000673972.1:c.111del	ENSP00000501281.1:p.Asn38ThrfsTer?
ENST00000674111.1:c.111del	ENSP00000501162.1:p.Asn38ThrfsTer3
ENST00000231790.6:c.111del	ENSP00000231790.2:p.Asn38ThrfsTer3
ENST00000432299.5:c.111del	ENSP00000416783.1:p.Asn38ThrfsTer?
ENST00000442249.5:c.111del	ENSP00000387511.1:p.Asn38ThrfsTer10
ENST00000454028.5:c.111del	ENSP00000392649.1:p.Asn38ThrfsTer?
ENST00000456676.6:c.86del
ENST00000457004.5:c.111del	ENSP00000407773.1:p.Asn38ThrfsTer?
ENST00000536378.5:c.-522del	ENSP00000444286.2:n.-522del
NM_000249.3:c.111del , LRG_216t1:c.111del	NP_000240.1:p.Asn38ThrfsTer3
NM_001258271.1:c.111del	NP_001245200.1:p.Asn38ThrfsTer3
NM_001258273.1:c.-522del	NP_001245202.1:n.-522del
XM_005265161.1:c.111del	XP_005265218.1:p.Asn38ThrfsTer3
XM_005265164.1:c.-608del	XP_005265221.1:n.-608del
NM_001167617.2:c.-406del	NP_001161089.1:n.-406del
NM_001167618.2:c.-835del	NP_001161090.1:n.-835del
NM_001167619.2:c.-748del	NP_001161091.1:n.-748del
NM_001258274.2:c.-985del	NP_001245203.1:n.-985del
NM_001354615.1:c.-516del	NP_001341544.1:n.-516del
NM_001354616.1:c.-516del	NP_001341545.1:n.-516del
NM_001354617.1:c.-608del	NP_001341546.1:n.-608del
NM_001354618.1:c.-840del	NP_001341547.1:n.-840del
NM_001354619.1:c.-964del	NP_001341548.1:n.-964del
NM_001354620.1:c.-174del	NP_001341549.1:n.-174del
NM_001354621.1:c.-933del	NP_001341550.1:n.-933del
NM_001354622.1:c.-1046del	NP_001341551.1:n.-1046del
NM_001354623.1:c.-955del	NP_001341552.1:n.-955del
NM_001354624.1:c.-716del	NP_001341553.1:n.-716del
NM_001354625.1:c.-614del	NP_001341554.1:n.-614del
NM_001354626.1:c.-711del	NP_001341555.1:n.-711del
NM_001354627.1:c.-943del	NP_001341556.1:n.-943del
NM_001354628.1:c.111del	NP_001341557.1:p.Asn38ThrfsTer3
NM_001354629.1:c.111del	NP_001341558.1:p.Asn38ThrfsTer3
NM_001354630.1:c.111del	NP_001341559.1:p.Asn38ThrfsTer3
XM_005265161.2:c.111del	XP_005265218.1:p.Asn38ThrfsTer3
XM_017006450.2:c.-701del	XP_016861939.1:n.-701del
NM_000249.4:c.111del MANE Select	NP_000240.1:p.Asn38ThrfsTer3
NM_001167617.3:c.-406del	NP_001161089.1:n.-406del
NM_001167618.3:c.-835del	NP_001161090.1:n.-835del
NM_001167619.3:c.-748del	NP_001161091.1:n.-748del
NM_001258271.2:c.111del	NP_001245200.1:p.Asn38ThrfsTer3
NM_001258273.2:c.-522del	NP_001245202.1:n.-522del
NM_001258274.3:c.-985del	NP_001245203.1:n.-985del
NM_001354615.2:c.-516del	NP_001341544.1:n.-516del
NM_001354616.2:c.-516del	NP_001341545.1:n.-516del
NM_001354617.2:c.-608del	NP_001341546.1:n.-608del
NM_001354618.2:c.-840del	NP_001341547.1:n.-840del
NM_001354619.2:c.-964del	NP_001341548.1:n.-964del
NM_001354620.2:c.-174del	NP_001341549.1:n.-174del
NM_001354621.2:c.-933del	NP_001341550.1:n.-933del
NM_001354622.2:c.-1046del	NP_001341551.1:n.-1046del
NM_001354623.2:c.-955del	NP_001341552.1:n.-955del
NM_001354624.2:c.-716del	NP_001341553.1:n.-716del
NM_001354625.2:c.-614del	NP_001341554.1:n.-614del
NM_001354626.2:c.-711del	NP_001341555.1:n.-711del
NM_001354627.2:c.-943del	NP_001341556.1:n.-943del
NM_001354628.2:c.111del	NP_001341557.1:p.Asn38ThrfsTer3
NM_001354629.2:c.111del	NP_001341558.1:p.Asn38ThrfsTer3
NM_001354630.2:c.111del	NP_001341559.1:p.Asn38ThrfsTer3