Canonical Allele Identifier: CA2586971871

Gene: MLH1

Linked Data

• ClinVar Variation Id: 3075771
• ClinVar RCV Id: RCV004018089
• gnomAD v4: 3-36993628-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993630del , CM000665.2:g.36993630del	GRCh38
NC_000003.11:g.37035121del , CM000665.1:g.37035121del	GRCh37
NC_000003.10:g.37010125del	NCBI36
NG_007109.2:g.5281del , LRG_216:g.5281del
NG_008418.1:g.4676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.83del	ENSP00000416476.2:p.Pro28GlnfsTer8
ENST00000450420.6:c.83del	ENSP00000393006.2:p.Pro28GlnfsTer8
ENST00000456676.7:c.83del	ENSP00000416687.3:p.Pro28GlnfsTer8
ENST00000458009.6:c.83del	ENSP00000411066.2:p.Pro28GlnfsTer8
ENST00000616768.6:c.83del	ENSP00000480669.3:p.Pro28GlnfsTer8
ENST00000673673.2:c.83del	ENSP00000500979.2:p.Pro28GlnfsTer8
ENST00000231790.8:c.83del MANE Select	ENSP00000231790.3:p.Pro28GlnfsTer8
ENST00000432299.6:c.83del	ENSP00000416783.1:p.Pro28GlnfsTer8
ENST00000442249.6:n.98del
ENST00000673673.1:c.36del
ENST00000673713.1:n.114del
ENST00000673715.1:c.83del	ENSP00000501301.1:p.Pro28GlnfsTer8
ENST00000673897.1:c.83del	ENSP00000501109.1:p.Pro28GlnfsTer8
ENST00000673899.1:c.83del	ENSP00000501030.1:p.Pro28GlnfsTer8
ENST00000673947.1:c.83del	ENSP00000501304.1:p.Pro28GlnfsTer8
ENST00000673972.1:c.83del	ENSP00000501281.1:p.Pro28GlnfsTer8
ENST00000674111.1:c.83del	ENSP00000501162.1:p.Pro28GlnfsTer8
ENST00000231790.6:c.83del	ENSP00000231790.2:p.Pro28GlnfsTer8
ENST00000432299.5:c.83del	ENSP00000416783.1:p.Pro28GlnfsTer8
ENST00000442249.5:c.83del	ENSP00000387511.1:p.Pro28GlnfsTer8
ENST00000454028.5:c.83del	ENSP00000392649.1:p.Pro28GlnfsTer8
ENST00000456676.6:c.58del
ENST00000457004.5:c.83del	ENSP00000407773.1:p.Pro28GlnfsTer8
ENST00000536378.5:c.-550del	ENSP00000444286.2:n.-550del
NM_000249.3:c.83del , LRG_216t1:c.83del	NP_000240.1:p.Pro28GlnfsTer8
NM_001258271.1:c.83del	NP_001245200.1:p.Pro28GlnfsTer8
NM_001258273.1:c.-550del	NP_001245202.1:n.-550del
XM_005265161.1:c.83del	XP_005265218.1:p.Pro28GlnfsTer8
XM_005265164.1:c.-636del	XP_005265221.1:n.-636del
NM_001167617.2:c.-434del	NP_001161089.1:n.-434del
NM_001167618.2:c.-863del	NP_001161090.1:n.-863del
NM_001167619.2:c.-776del	NP_001161091.1:n.-776del
NM_001258274.2:c.-1013del	NP_001245203.1:n.-1013del
NM_001354615.1:c.-544del	NP_001341544.1:n.-544del
NM_001354616.1:c.-544del	NP_001341545.1:n.-544del
NM_001354617.1:c.-636del	NP_001341546.1:n.-636del
NM_001354618.1:c.-868del	NP_001341547.1:n.-868del
NM_001354619.1:c.-992del	NP_001341548.1:n.-992del
NM_001354620.1:c.-202del	NP_001341549.1:n.-202del
NM_001354621.1:c.-961del	NP_001341550.1:n.-961del
NM_001354622.1:c.-1074del	NP_001341551.1:n.-1074del
NM_001354623.1:c.-983del	NP_001341552.1:n.-983del
NM_001354624.1:c.-744del	NP_001341553.1:n.-744del
NM_001354625.1:c.-642del	NP_001341554.1:n.-642del
NM_001354626.1:c.-739del	NP_001341555.1:n.-739del
NM_001354627.1:c.-971del	NP_001341556.1:n.-971del
NM_001354628.1:c.83del	NP_001341557.1:p.Pro28GlnfsTer8
NM_001354629.1:c.83del	NP_001341558.1:p.Pro28GlnfsTer8
NM_001354630.1:c.83del	NP_001341559.1:p.Pro28GlnfsTer8
XM_005265161.2:c.83del	XP_005265218.1:p.Pro28GlnfsTer8
XM_017006450.2:c.-729del	XP_016861939.1:n.-729del
NM_000249.4:c.83del MANE Select	NP_000240.1:p.Pro28GlnfsTer8
NM_001167617.3:c.-434del	NP_001161089.1:n.-434del
NM_001167618.3:c.-863del	NP_001161090.1:n.-863del
NM_001167619.3:c.-776del	NP_001161091.1:n.-776del
NM_001258271.2:c.83del	NP_001245200.1:p.Pro28GlnfsTer8
NM_001258273.2:c.-550del	NP_001245202.1:n.-550del
NM_001258274.3:c.-1013del	NP_001245203.1:n.-1013del
NM_001354615.2:c.-544del	NP_001341544.1:n.-544del
NM_001354616.2:c.-544del	NP_001341545.1:n.-544del
NM_001354617.2:c.-636del	NP_001341546.1:n.-636del
NM_001354618.2:c.-868del	NP_001341547.1:n.-868del
NM_001354619.2:c.-992del	NP_001341548.1:n.-992del
NM_001354620.2:c.-202del	NP_001341549.1:n.-202del
NM_001354621.2:c.-961del	NP_001341550.1:n.-961del
NM_001354622.2:c.-1074del	NP_001341551.1:n.-1074del
NM_001354623.2:c.-983del	NP_001341552.1:n.-983del
NM_001354624.2:c.-744del	NP_001341553.1:n.-744del
NM_001354625.2:c.-642del	NP_001341554.1:n.-642del
NM_001354626.2:c.-739del	NP_001341555.1:n.-739del
NM_001354627.2:c.-971del	NP_001341556.1:n.-971del
NM_001354628.2:c.83del	NP_001341557.1:p.Pro28GlnfsTer8
NM_001354629.2:c.83del	NP_001341558.1:p.Pro28GlnfsTer8
NM_001354630.2:c.83del	NP_001341559.1:p.Pro28GlnfsTer8