Canonical Allele Identifier: CA009890

Gene: MLH1

Linked Data

• ClinVar Variation Id: 36549
• ClinVar RCV Id: RCV000030222 ; RCV000034536 ; RCV000202040
• dbSNP Id: rs193922366
• ExAC: 3:37092173 GTTC / G
• gnomAD v2: 3-37092173-GTTC-G
• gnomAD v3: 3-37050682-GTTC-G
• gnomAD v4: 3-37050682-GTTC-G
• MyVariant Identifiers: chr3:g.37092179_37092181del (hg19) ; chr3:g.37092174_37092176del (hg19) ; chr3:g.37050688_37050690del (hg38) ; chr3:g.37050684_37050686del (hg38) ; chr3:g.37050683_37050685del (hg38)
• PubMed: PMID:8993976 ; PMID:10386556 ; PMID:10446963 ; PMID:16285940 ; PMID:18301448 ; PMID:18496770 ; PMID:22703879 ; PMID:23573243 ; PMID:24689082 ; PMID:24728327 ; PMID:24802709

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050688_37050690del , CM000665.2:g.37050688_37050690del	GRCh38
NC_000003.11:g.37092179_37092181del , CM000665.1:g.37092179_37092181del	GRCh37
NC_000003.10:g.37067183_37067185del	NCBI36
NG_007109.2:g.62339_62341del , LRG_216:g.62339_62341del
NG_053016.1:g.131133_131135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.*35_*37del	ENSP00000416476.2:n.*35_*37del
ENST00000429117.6:c.*35_*37del	ENSP00000407019.2:n.*35_*37del
ENST00000456676.7:c.*35_*37del	ENSP00000416687.3:n.*35_*37del
ENST00000492474.6:c.*35_*37del	ENSP00000518393.1:n.*35_*37del
ENST00000616768.6:c.*35_*37del	ENSP00000480669.3:n.*35_*37del
ENST00000673673.2:c.*35_*37del	ENSP00000500979.2:n.*35_*37del
ENST00000231790.8:c.*35_*37del MANE Select	ENSP00000231790.3:n.*35_*37del
ENST00000413212.2:c.*1224_*1226del	ENSP00000400844.2:n.*1224_*1226del
ENST00000432299.6:c.*2138_*2140del	ENSP00000416783.1:n.*2138_*2140del
ENST00000447829.6:c.*1417_*1419del	ENSP00000399329.2:n.*1417_*1419del
ENST00000539477.6:c.*35_*37del	ENSP00000443665.1:n.*35_*37del
ENST00000616768.5:c.1250_1252del	ENSP00000480669.2:n.1250_1252del
ENST00000673673.1:c.2094_2096del
ENST00000673741.1:n.1340_1342del
ENST00000673889.1:n.1688_1690del
ENST00000673897.1:c.*2098_*2100del	ENSP00000501109.1:n.*2098_*2100del
ENST00000673899.1:c.*35_*37del	ENSP00000501030.1:n.*35_*37del
ENST00000673947.1:c.*2446_*2448del	ENSP00000501304.1:n.*2446_*2448del
ENST00000673972.1:c.*2184_*2186del	ENSP00000501281.1:n.*2184_*2186del
ENST00000674019.1:c.*35_*37del	ENSP00000501081.1:n.*35_*37del
ENST00000674111.1:c.*535_*537del	ENSP00000501162.1:n.*535_*537del
ENST00000674125.1:n.1017_1019del
ENST00000231790.6:c.*35_*37del	ENSP00000231790.2:n.*35_*37del
ENST00000435176.5:c.*35_*37del	ENSP00000402564.1:n.*35_*37del
ENST00000455445.6:c.*35_*37del	ENSP00000398272.2:n.*35_*37del
ENST00000456676.6:c.2074_2076del
ENST00000458205.6:c.*35_*37del	ENSP00000402667.2:n.*35_*37del
ENST00000536378.5:c.*35_*37del	ENSP00000444286.2:n.*35_*37del
ENST00000539477.5:c.*35_*37del	ENSP00000443665.1:n.*35_*37del
NM_000249.3:c.*35_*37del , LRG_216t1:c.*35_*37del	NP_000240.1:n.*35_*37del
NM_001167617.1:c.*35_*37del	NP_001161089.1:n.*35_*37del
NM_001167618.1:c.*35_*37del	NP_001161090.1:n.*35_*37del
NM_001167619.1:c.*35_*37del	NP_001161091.1:n.*35_*37del
NM_001258271.1:c.*35_*37del	NP_001245200.1:n.*35_*37del
NM_001258273.1:c.*35_*37del	NP_001245202.1:n.*35_*37del
NM_001258274.1:c.*35_*37del	NP_001245203.1:n.*35_*37del
XM_005265161.1:c.*35_*37del	XP_005265218.1:n.*35_*37del
XM_005265163.1:c.*35_*37del	XP_005265220.1:n.*35_*37del
XM_005265164.1:c.*35_*37del	XP_005265221.1:n.*35_*37del
XM_005265166.1:c.*35_*37del	XP_005265223.1:n.*35_*37del
XM_011533727.1:c.*35_*37del	XP_011532029.1:n.*35_*37del
NM_001167617.2:c.*35_*37del	NP_001161089.1:n.*35_*37del
NM_001167618.2:c.*35_*37del	NP_001161090.1:n.*35_*37del
NM_001167619.2:c.*35_*37del	NP_001161091.1:n.*35_*37del
NM_001258274.2:c.*35_*37del	NP_001245203.1:n.*35_*37del
NM_001354615.1:c.*35_*37del	NP_001341544.1:n.*35_*37del
NM_001354616.1:c.*35_*37del	NP_001341545.1:n.*35_*37del
NM_001354617.1:c.*35_*37del	NP_001341546.1:n.*35_*37del
NM_001354618.1:c.*35_*37del	NP_001341547.1:n.*35_*37del
NM_001354619.1:c.*35_*37del	NP_001341548.1:n.*35_*37del
NM_001354620.1:c.*35_*37del	NP_001341549.1:n.*35_*37del
NM_001354621.1:c.*35_*37del	NP_001341550.1:n.*35_*37del
NM_001354622.1:c.*35_*37del	NP_001341551.1:n.*35_*37del
NM_001354623.1:c.*35_*37del	NP_001341552.1:n.*35_*37del
NM_001354624.1:c.*35_*37del	NP_001341553.1:n.*35_*37del
NM_001354625.1:c.*35_*37del	NP_001341554.1:n.*35_*37del
NM_001354626.1:c.*35_*37del	NP_001341555.1:n.*35_*37del
NM_001354627.1:c.*35_*37del	NP_001341556.1:n.*35_*37del
NM_001354628.1:c.*35_*37del	NP_001341557.1:n.*35_*37del
NM_001354629.1:c.*35_*37del	NP_001341558.1:n.*35_*37del
NM_001354630.1:c.*35_*37del	NP_001341559.1:n.*35_*37del
XM_005265161.2:c.*35_*37del	XP_005265218.1:n.*35_*37del
XM_017006450.2:c.*35_*37del	XP_016861939.1:n.*35_*37del
NM_000249.4:c.*35_*37del MANE Select	NP_000240.1:n.*35_*37del
NM_001167617.3:c.*35_*37del	NP_001161089.1:n.*35_*37del
NM_001167618.3:c.*35_*37del	NP_001161090.1:n.*35_*37del
NM_001167619.3:c.*35_*37del	NP_001161091.1:n.*35_*37del
NM_001258271.2:c.*35_*37del	NP_001245200.1:n.*35_*37del
NM_001258273.2:c.*35_*37del	NP_001245202.1:n.*35_*37del
NM_001258274.3:c.*35_*37del	NP_001245203.1:n.*35_*37del
NM_001354615.2:c.*35_*37del	NP_001341544.1:n.*35_*37del
NM_001354616.2:c.*35_*37del	NP_001341545.1:n.*35_*37del
NM_001354617.2:c.*35_*37del	NP_001341546.1:n.*35_*37del
NM_001354618.2:c.*35_*37del	NP_001341547.1:n.*35_*37del
NM_001354619.2:c.*35_*37del	NP_001341548.1:n.*35_*37del
NM_001354620.2:c.*35_*37del	NP_001341549.1:n.*35_*37del
NM_001354621.2:c.*35_*37del	NP_001341550.1:n.*35_*37del
NM_001354622.2:c.*35_*37del	NP_001341551.1:n.*35_*37del
NM_001354623.2:c.*35_*37del	NP_001341552.1:n.*35_*37del
NM_001354624.2:c.*35_*37del	NP_001341553.1:n.*35_*37del
NM_001354625.2:c.*35_*37del	NP_001341554.1:n.*35_*37del
NM_001354626.2:c.*35_*37del	NP_001341555.1:n.*35_*37del
NM_001354627.2:c.*35_*37del	NP_001341556.1:n.*35_*37del
NM_001354628.2:c.*35_*37del	NP_001341557.1:n.*35_*37del
NM_001354629.2:c.*35_*37del	NP_001341558.1:n.*35_*37del
NM_001354630.2:c.*35_*37del	NP_001341559.1:n.*35_*37del