Canonical Allele Identifier: CA906761405

Gene: MLH1

Linked Data

• dbSNP Id: rs1275972082
• gnomAD v3: 3-37000843-ACTCT-A
• gnomAD v4: 3-37000843-ACTCT-A
• MyVariant Identifiers: chr3:g.37042335_37042338del (hg19) ; chr3:g.37000844_37000847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37000844_37000847del , CM000665.2:g.37000844_37000847del	GRCh38
NC_000003.11:g.37042335_37042338del , CM000665.1:g.37042335_37042338del	GRCh37
NC_000003.10:g.37017339_37017342del	NCBI36
NG_007109.2:g.12495_12498del , LRG_216:g.12495_12498del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.208-111_208-108del	ENSP00000416476.2:n.208-111_208-108del
ENST00000429117.6:c.-82-111_-82-108del	ENSP00000407019.2:n.-82-111_-82-108del
ENST00000450420.6:c.208-111_208-108del	ENSP00000393006.2:n.208-111_208-108del
ENST00000456676.7:c.208-111_208-108del	ENSP00000416687.3:n.208-111_208-108del
ENST00000458009.6:c.208-111_208-108del	ENSP00000411066.2:n.208-111_208-108del
ENST00000492474.6:c.-516-111_-516-108del	ENSP00000518393.1:n.-516-111_-516-108del
ENST00000616768.6:c.208-111_208-108del	ENSP00000480669.3:n.208-111_208-108del
ENST00000673673.2:c.208-111_208-108del	ENSP00000500979.2:n.208-111_208-108del
ENST00000231790.8:c.208-111_208-108del MANE Select	ENSP00000231790.3:n.208-111_208-108del
ENST00000413212.2:c.-516-111_-516-108del	ENSP00000400844.2:n.-516-111_-516-108del
ENST00000432299.6:c.*288-111_*288-108del	ENSP00000416783.1:n.*288-111_*288-108del
ENST00000441265.6:c.-516-111_-516-108del	ENSP00000398392.2:n.-516-111_-516-108del
ENST00000442249.6:n.223-111_223-108del
ENST00000447829.6:c.-82-111_-82-108del	ENSP00000399329.2:n.-82-111_-82-108del
ENST00000539477.6:c.-424-111_-424-108del	ENSP00000443665.1:n.-424-111_-424-108del
ENST00000673673.1:c.161-111_161-108del
ENST00000673713.1:n.239-111_239-108del
ENST00000673715.1:c.208-111_208-108del	ENSP00000501301.1:n.208-111_208-108del
ENST00000673897.1:c.117-111_117-108del	ENSP00000501109.1:n.117-111_117-108del
ENST00000673899.1:c.208-111_208-108del	ENSP00000501030.1:n.208-111_208-108del
ENST00000673947.1:c.*348-111_*348-108del	ENSP00000501304.1:n.*348-111_*348-108del
ENST00000673972.1:c.*86-111_*86-108del	ENSP00000501281.1:n.*86-111_*86-108del
ENST00000673990.1:n.193-111_193-108del
ENST00000674019.1:c.-516-111_-516-108del	ENSP00000501081.1:n.-516-111_-516-108del
ENST00000674107.1:n.150-111_150-108del
ENST00000674111.1:c.208-111_208-108del	ENSP00000501162.1:n.208-111_208-108del
ENST00000231790.6:c.208-111_208-108del	ENSP00000231790.2:n.208-111_208-108del
ENST00000429117.5:c.-82-111_-82-108del	ENSP00000407019.1:n.-82-111_-82-108del
ENST00000432299.5:c.*288-111_*288-108del	ENSP00000416783.1:n.*288-111_*288-108del
ENST00000435176.5:c.-82-111_-82-108del	ENSP00000402564.1:n.-82-111_-82-108del
ENST00000441265.5:c.-424-111_-424-108del	ENSP00000398392.1:n.-424-111_-424-108del
ENST00000442249.5:c.117-111_117-108del	ENSP00000387511.1:n.117-111_117-108del
ENST00000454028.5:c.*86-111_*86-108del	ENSP00000392649.1:n.*86-111_*86-108del
ENST00000455445.6:c.-516-111_-516-108del	ENSP00000398272.2:n.-516-111_-516-108del
ENST00000456676.6:c.183-111_183-108del
ENST00000457004.5:c.*86-3557_*86-3554del	ENSP00000407773.1:n.*86-3557_*86-3554del
ENST00000458205.6:c.-516-111_-516-108del	ENSP00000402667.2:n.-516-111_-516-108del
ENST00000466900.5:n.135-111_135-108del
ENST00000476172.5:n.330-111_330-108del
ENST00000485889.1:n.212-111_212-108del
ENST00000492474.5:n.231-111_231-108del
ENST00000536378.5:c.-516-111_-516-108del	ENSP00000444286.2:n.-516-111_-516-108del
ENST00000539477.5:c.-424-111_-424-108del	ENSP00000443665.1:n.-424-111_-424-108del
NM_000249.3:c.208-111_208-108del , LRG_216t1:c.208-111_208-108del	NP_000240.1:n.208-111_208-108del
NM_001167617.1:c.-82-111_-82-108del	NP_001161089.1:n.-82-111_-82-108del
NM_001167618.1:c.-516-111_-516-108del	NP_001161090.1:n.-516-111_-516-108del
NM_001167619.1:c.-424-111_-424-108del	NP_001161091.1:n.-424-111_-424-108del
NM_001258271.1:c.208-111_208-108del	NP_001245200.1:n.208-111_208-108del
NM_001258273.1:c.-516-111_-516-108del	NP_001245202.1:n.-516-111_-516-108del
NM_001258274.1:c.-516-111_-516-108del	NP_001245203.1:n.-516-111_-516-108del
XM_005265161.1:c.208-111_208-108del	XP_005265218.1:n.208-111_208-108del
XM_005265163.1:c.-516-111_-516-108del	XP_005265220.1:n.-516-111_-516-108del
XM_005265164.1:c.-516-111_-516-108del	XP_005265221.1:n.-516-111_-516-108del
XM_005265166.1:c.-722-111_-722-108del	XP_005265223.1:n.-722-111_-722-108del
XM_011533727.1:c.-619-111_-619-108del	XP_011532029.1:n.-619-111_-619-108del
NM_001167617.2:c.-82-111_-82-108del	NP_001161089.1:n.-82-111_-82-108del
NM_001167618.2:c.-516-111_-516-108del	NP_001161090.1:n.-516-111_-516-108del
NM_001167619.2:c.-424-111_-424-108del	NP_001161091.1:n.-424-111_-424-108del
NM_001258274.2:c.-516-111_-516-108del	NP_001245203.1:n.-516-111_-516-108del
NM_001354615.1:c.-419-111_-419-108del	NP_001341544.1:n.-419-111_-419-108del
NM_001354616.1:c.-424-111_-424-108del	NP_001341545.1:n.-424-111_-424-108del
NM_001354617.1:c.-516-111_-516-108del	NP_001341546.1:n.-516-111_-516-108del
NM_001354618.1:c.-516-111_-516-108del	NP_001341547.1:n.-516-111_-516-108del
NM_001354619.1:c.-516-111_-516-108del	NP_001341548.1:n.-516-111_-516-108del
NM_001354620.1:c.-82-111_-82-108del	NP_001341549.1:n.-82-111_-82-108del
NM_001354621.1:c.-609-111_-609-108del	NP_001341550.1:n.-609-111_-609-108del
NM_001354622.1:c.-722-111_-722-108del	NP_001341551.1:n.-722-111_-722-108del
NM_001354623.1:c.-722-111_-722-108del	NP_001341552.1:n.-722-111_-722-108del
NM_001354624.1:c.-619-111_-619-108del	NP_001341553.1:n.-619-111_-619-108del
NM_001354625.1:c.-522-111_-522-108del	NP_001341554.1:n.-522-111_-522-108del
NM_001354626.1:c.-619-111_-619-108del	NP_001341555.1:n.-619-111_-619-108del
NM_001354627.1:c.-619-111_-619-108del	NP_001341556.1:n.-619-111_-619-108del
NM_001354628.1:c.208-111_208-108del	NP_001341557.1:n.208-111_208-108del
NM_001354629.1:c.208-3557_208-3554del	NP_001341558.1:n.208-3557_208-3554del
NM_001354630.1:c.208-111_208-108del	NP_001341559.1:n.208-111_208-108del
XM_005265161.2:c.208-111_208-108del	XP_005265218.1:n.208-111_208-108del
XM_017006450.2:c.-609-111_-609-108del	XP_016861939.1:n.-609-111_-609-108del
NM_000249.4:c.208-111_208-108del MANE Select	NP_000240.1:n.208-111_208-108del
NM_001167617.3:c.-82-111_-82-108del	NP_001161089.1:n.-82-111_-82-108del
NM_001167618.3:c.-516-111_-516-108del	NP_001161090.1:n.-516-111_-516-108del
NM_001167619.3:c.-424-111_-424-108del	NP_001161091.1:n.-424-111_-424-108del
NM_001258271.2:c.208-111_208-108del	NP_001245200.1:n.208-111_208-108del
NM_001258273.2:c.-516-111_-516-108del	NP_001245202.1:n.-516-111_-516-108del
NM_001258274.3:c.-516-111_-516-108del	NP_001245203.1:n.-516-111_-516-108del
NM_001354615.2:c.-419-111_-419-108del	NP_001341544.1:n.-419-111_-419-108del
NM_001354616.2:c.-424-111_-424-108del	NP_001341545.1:n.-424-111_-424-108del
NM_001354617.2:c.-516-111_-516-108del	NP_001341546.1:n.-516-111_-516-108del
NM_001354618.2:c.-516-111_-516-108del	NP_001341547.1:n.-516-111_-516-108del
NM_001354619.2:c.-516-111_-516-108del	NP_001341548.1:n.-516-111_-516-108del
NM_001354620.2:c.-82-111_-82-108del	NP_001341549.1:n.-82-111_-82-108del
NM_001354621.2:c.-609-111_-609-108del	NP_001341550.1:n.-609-111_-609-108del
NM_001354622.2:c.-722-111_-722-108del	NP_001341551.1:n.-722-111_-722-108del
NM_001354623.2:c.-722-111_-722-108del	NP_001341552.1:n.-722-111_-722-108del
NM_001354624.2:c.-619-111_-619-108del	NP_001341553.1:n.-619-111_-619-108del
NM_001354625.2:c.-522-111_-522-108del	NP_001341554.1:n.-522-111_-522-108del
NM_001354626.2:c.-619-111_-619-108del	NP_001341555.1:n.-619-111_-619-108del
NM_001354627.2:c.-619-111_-619-108del	NP_001341556.1:n.-619-111_-619-108del
NM_001354628.2:c.208-111_208-108del	NP_001341557.1:n.208-111_208-108del
NM_001354629.2:c.208-3557_208-3554del	NP_001341558.1:n.208-3557_208-3554del
NM_001354630.2:c.208-111_208-108del	NP_001341559.1:n.208-111_208-108del