Canonical Allele Identifier: CA2580069445

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1736482
• ClinVar RCV Id: RCV002357648

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993663_36993665del , CM000665.2:g.36993663_36993665del	GRCh38
NC_000003.11:g.37035154_37035156del , CM000665.1:g.37035154_37035156del	GRCh37
NC_000003.10:g.37010158_37010160del	NCBI36
NG_007109.2:g.5314_5316del , LRG_216:g.5314_5316del
NG_008418.1:g.4641_4643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.116_116+2del
ENST00000450420.6:c.116_116+2del
ENST00000456676.7:c.116_116+2del
ENST00000458009.6:c.116_116+2del
ENST00000616768.6:c.116_116+2del
ENST00000673673.2:c.116_116+2del
ENST00000231790.8:c.116_116+2del
ENST00000432299.6:c.116_118del	ENSP00000416783.1:p.Trp39del
ENST00000442249.6:n.131_131+2del
ENST00000673673.1:c.69_69+2del
ENST00000673713.1:n.147_147+2del
ENST00000673715.1:c.116_116+2del
ENST00000673897.1:c.116_116+2del
ENST00000673899.1:c.116_116+2del
ENST00000673947.1:c.116_116+2del
ENST00000673972.1:c.116_116+2del
ENST00000674111.1:c.116_116+2del
ENST00000231790.6:c.116_116+2del
ENST00000432299.5:c.116_118del	ENSP00000416783.1:p.Trp39del
ENST00000442249.5:c.116_116+2del
ENST00000454028.5:c.116_116+2del
ENST00000456676.6:c.91_91+2del
ENST00000457004.5:c.116_116+2del
ENST00000536378.5:c.-517_-517+2del
NM_000249.3:c.116_116+2del , LRG_216t1:c.116_116+2del
NM_001258271.1:c.116_116+2del
NM_001258273.1:c.-517_-517+2del
XM_005265161.1:c.116_116+2del
XM_005265164.1:c.-603_-603+2del
NM_001167617.2:c.-401_-399del	NP_001161089.1:n.-401_-399del
NM_001167618.2:c.-830_-828del	NP_001161090.1:n.-830_-828del
NM_001167619.2:c.-743_-741del	NP_001161091.1:n.-743_-741del
NM_001258274.2:c.-980_-978del	NP_001245203.1:n.-980_-978del
NM_001354615.1:c.-511_-511+2del
NM_001354616.1:c.-511_-511+2del
NM_001354617.1:c.-603_-603+2del
NM_001354618.1:c.-835_-833del	NP_001341547.1:n.-835_-833del
NM_001354619.1:c.-959_-957del	NP_001341548.1:n.-959_-957del
NM_001354620.1:c.-169_-169+2del
NM_001354621.1:c.-928_-926del	NP_001341550.1:n.-928_-926del
NM_001354622.1:c.-1041_-1039del	NP_001341551.1:n.-1041_-1039del
NM_001354623.1:c.-950_-948del	NP_001341552.1:n.-950_-948del
NM_001354624.1:c.-711_-711+2del
NM_001354625.1:c.-609_-609+2del
NM_001354626.1:c.-706_-706+2del
NM_001354627.1:c.-938_-936del	NP_001341556.1:n.-938_-936del
NM_001354628.1:c.116_116+2del
NM_001354629.1:c.116_116+2del
NM_001354630.1:c.116_116+2del
XM_005265161.2:c.116_116+2del
XM_017006450.2:c.-696_-696+2del
NM_000249.4:c.116_116+2del
NM_001167617.3:c.-401_-399del	NP_001161089.1:n.-401_-399del
NM_001167618.3:c.-830_-828del	NP_001161090.1:n.-830_-828del
NM_001167619.3:c.-743_-741del	NP_001161091.1:n.-743_-741del
NM_001258271.2:c.116_116+2del
NM_001258273.2:c.-517_-517+2del
NM_001258274.3:c.-980_-978del	NP_001245203.1:n.-980_-978del
NM_001354615.2:c.-511_-511+2del
NM_001354616.2:c.-511_-511+2del
NM_001354617.2:c.-603_-603+2del
NM_001354618.2:c.-835_-833del	NP_001341547.1:n.-835_-833del
NM_001354619.2:c.-959_-957del	NP_001341548.1:n.-959_-957del
NM_001354620.2:c.-169_-169+2del
NM_001354621.2:c.-928_-926del	NP_001341550.1:n.-928_-926del
NM_001354622.2:c.-1041_-1039del	NP_001341551.1:n.-1041_-1039del
NM_001354623.2:c.-950_-948del	NP_001341552.1:n.-950_-948del
NM_001354624.2:c.-711_-711+2del
NM_001354625.2:c.-609_-609+2del
NM_001354626.2:c.-706_-706+2del
NM_001354627.2:c.-938_-936del	NP_001341556.1:n.-938_-936del
NM_001354628.2:c.116_116+2del
NM_001354629.2:c.116_116+2del
NM_001354630.2:c.116_116+2del