Canonical Allele Identifier: CA037999

Gene: MLH1

Linked Data

• ClinVar Variation Id: 627657
• ClinVar RCV Id: RCV000771208 ; RCV001540551
• dbSNP Id: rs779336928
• ExAC: 3:37092150 GTTAT / G
• gnomAD v2: 3-37092150-GTTAT-G
• gnomAD v3: 3-37050659-GTTAT-G
• gnomAD v4: 3-37050659-GTTAT-G
• MyVariant Identifiers: chr3:g.37092151_37092154del (hg19) ; chr3:g.37050660_37050663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050664_37050667del , CM000665.2:g.37050664_37050667del	GRCh38
NC_000003.11:g.37092155_37092158del , CM000665.1:g.37092155_37092158del	GRCh37
NC_000003.10:g.37067159_37067162del	NCBI36
NG_007109.2:g.62315_62318del , LRG_216:g.62315_62318del
NG_053016.1:g.131155_131158del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.*11_*14del	ENSP00000416476.2:n.*11_*14del
ENST00000429117.6:c.*11_*14del	ENSP00000407019.2:n.*11_*14del
ENST00000456676.7:c.*11_*14del	ENSP00000416687.3:n.*11_*14del
ENST00000492474.6:c.*11_*14del	ENSP00000518393.1:n.*11_*14del
ENST00000616768.6:c.*11_*14del	ENSP00000480669.3:n.*11_*14del
ENST00000673673.2:c.*11_*14del	ENSP00000500979.2:n.*11_*14del
ENST00000231790.8:c.*11_*14del MANE Select	ENSP00000231790.3:n.*11_*14del
ENST00000413212.2:c.*1200_*1203del	ENSP00000400844.2:n.*1200_*1203del
ENST00000432299.6:c.*2114_*2117del	ENSP00000416783.1:n.*2114_*2117del
ENST00000447829.6:c.*1393_*1396del	ENSP00000399329.2:n.*1393_*1396del
ENST00000539477.6:c.*11_*14del	ENSP00000443665.1:n.*11_*14del
ENST00000616768.5:c.1226_1229del	ENSP00000480669.2:n.1226_1229del
ENST00000673673.1:c.2070_2073del
ENST00000673741.1:n.1316_1319del
ENST00000673889.1:n.1664_1667del
ENST00000673897.1:c.*2074_*2077del	ENSP00000501109.1:n.*2074_*2077del
ENST00000673899.1:c.*11_*14del	ENSP00000501030.1:n.*11_*14del
ENST00000673947.1:c.*2422_*2425del	ENSP00000501304.1:n.*2422_*2425del
ENST00000673972.1:c.*2160_*2163del	ENSP00000501281.1:n.*2160_*2163del
ENST00000674019.1:c.*11_*14del	ENSP00000501081.1:n.*11_*14del
ENST00000674111.1:c.*511_*514del	ENSP00000501162.1:n.*511_*514del
ENST00000674125.1:n.993_996del
ENST00000231790.6:c.*11_*14del	ENSP00000231790.2:n.*11_*14del
ENST00000435176.5:c.*11_*14del	ENSP00000402564.1:n.*11_*14del
ENST00000455445.6:c.*11_*14del	ENSP00000398272.2:n.*11_*14del
ENST00000456676.6:c.2050_2053del
ENST00000458205.6:c.*11_*14del	ENSP00000402667.2:n.*11_*14del
ENST00000536378.5:c.*11_*14del	ENSP00000444286.2:n.*11_*14del
ENST00000539477.5:c.*11_*14del	ENSP00000443665.1:n.*11_*14del
NM_000249.3:c.*11_*14del , LRG_216t1:c.*11_*14del	NP_000240.1:n.*11_*14del
NM_001167617.1:c.*11_*14del	NP_001161089.1:n.*11_*14del
NM_001167618.1:c.*11_*14del	NP_001161090.1:n.*11_*14del
NM_001167619.1:c.*11_*14del	NP_001161091.1:n.*11_*14del
NM_001258271.1:c.*11_*14del	NP_001245200.1:n.*11_*14del
NM_001258273.1:c.*11_*14del	NP_001245202.1:n.*11_*14del
NM_001258274.1:c.*11_*14del	NP_001245203.1:n.*11_*14del
XM_005265161.1:c.*11_*14del	XP_005265218.1:n.*11_*14del
XM_005265163.1:c.*11_*14del	XP_005265220.1:n.*11_*14del
XM_005265164.1:c.*11_*14del	XP_005265221.1:n.*11_*14del
XM_005265166.1:c.*11_*14del	XP_005265223.1:n.*11_*14del
XM_011533727.1:c.*11_*14del	XP_011532029.1:n.*11_*14del
NM_001167617.2:c.*11_*14del	NP_001161089.1:n.*11_*14del
NM_001167618.2:c.*11_*14del	NP_001161090.1:n.*11_*14del
NM_001167619.2:c.*11_*14del	NP_001161091.1:n.*11_*14del
NM_001258274.2:c.*11_*14del	NP_001245203.1:n.*11_*14del
NM_001354615.1:c.*11_*14del	NP_001341544.1:n.*11_*14del
NM_001354616.1:c.*11_*14del	NP_001341545.1:n.*11_*14del
NM_001354617.1:c.*11_*14del	NP_001341546.1:n.*11_*14del
NM_001354618.1:c.*11_*14del	NP_001341547.1:n.*11_*14del
NM_001354619.1:c.*11_*14del	NP_001341548.1:n.*11_*14del
NM_001354620.1:c.*11_*14del	NP_001341549.1:n.*11_*14del
NM_001354621.1:c.*11_*14del	NP_001341550.1:n.*11_*14del
NM_001354622.1:c.*11_*14del	NP_001341551.1:n.*11_*14del
NM_001354623.1:c.*11_*14del	NP_001341552.1:n.*11_*14del
NM_001354624.1:c.*11_*14del	NP_001341553.1:n.*11_*14del
NM_001354625.1:c.*11_*14del	NP_001341554.1:n.*11_*14del
NM_001354626.1:c.*11_*14del	NP_001341555.1:n.*11_*14del
NM_001354627.1:c.*11_*14del	NP_001341556.1:n.*11_*14del
NM_001354628.1:c.*11_*14del	NP_001341557.1:n.*11_*14del
NM_001354629.1:c.*11_*14del	NP_001341558.1:n.*11_*14del
NM_001354630.1:c.*11_*14del	NP_001341559.1:n.*11_*14del
XM_005265161.2:c.*11_*14del	XP_005265218.1:n.*11_*14del
XM_017006450.2:c.*11_*14del	XP_016861939.1:n.*11_*14del
NM_000249.4:c.*11_*14del MANE Select	NP_000240.1:n.*11_*14del
NM_001167617.3:c.*11_*14del	NP_001161089.1:n.*11_*14del
NM_001167618.3:c.*11_*14del	NP_001161090.1:n.*11_*14del
NM_001167619.3:c.*11_*14del	NP_001161091.1:n.*11_*14del
NM_001258271.2:c.*11_*14del	NP_001245200.1:n.*11_*14del
NM_001258273.2:c.*11_*14del	NP_001245202.1:n.*11_*14del
NM_001258274.3:c.*11_*14del	NP_001245203.1:n.*11_*14del
NM_001354615.2:c.*11_*14del	NP_001341544.1:n.*11_*14del
NM_001354616.2:c.*11_*14del	NP_001341545.1:n.*11_*14del
NM_001354617.2:c.*11_*14del	NP_001341546.1:n.*11_*14del
NM_001354618.2:c.*11_*14del	NP_001341547.1:n.*11_*14del
NM_001354619.2:c.*11_*14del	NP_001341548.1:n.*11_*14del
NM_001354620.2:c.*11_*14del	NP_001341549.1:n.*11_*14del
NM_001354621.2:c.*11_*14del	NP_001341550.1:n.*11_*14del
NM_001354622.2:c.*11_*14del	NP_001341551.1:n.*11_*14del
NM_001354623.2:c.*11_*14del	NP_001341552.1:n.*11_*14del
NM_001354624.2:c.*11_*14del	NP_001341553.1:n.*11_*14del
NM_001354625.2:c.*11_*14del	NP_001341554.1:n.*11_*14del
NM_001354626.2:c.*11_*14del	NP_001341555.1:n.*11_*14del
NM_001354627.2:c.*11_*14del	NP_001341556.1:n.*11_*14del
NM_001354628.2:c.*11_*14del	NP_001341557.1:n.*11_*14del
NM_001354629.2:c.*11_*14del	NP_001341558.1:n.*11_*14del
NM_001354630.2:c.*11_*14del	NP_001341559.1:n.*11_*14del