Canonical Allele Identifier: CA2580069313

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1782171
• ClinVar RCV Id: RCV002408126 ; RCV003454301

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37048489_37048520delinsTCAGAAAAT , CM000665.2:g.37048489_37048520delinsTCAGAAAAT	GRCh38
NC_000003.11:g.37089980_37090011delinsTCAGAAAAT , CM000665.1:g.37089980_37090011delinsTCAGAAAAT	GRCh37
NC_000003.10:g.37064984_37065015delinsTCAGAAAAT	NCBI36
NG_007109.2:g.60140_60171delinsTCAGAAAAT , LRG_216:g.60140_60171delinsTCAGAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-1997_1668-1966delinsTCAGAAAAT	ENSP00000416476.2:n.1668-1997_1668-1966delinsTCAGAAAAT
ENST00000429117.6:c.1603-28_1606delinsTCAGAAAAT
ENST00000450420.6:c.1559-1997_1559-1966delinsTCAGAAAAT	ENSP00000393006.2:n.1559-1997_1559-1966delinsTCAGAAAAT
ENST00000456676.7:c.1896+806_1896+837delinsTCAGAAAAT	ENSP00000416687.3:n.1896+806_1896+837delinsTCAGAAAAT
ENST00000492474.6:c.1174-28_1177delinsTCAGAAAAT
ENST00000616768.6:c.1897-415_1897-384delinsTCAGAAAAT	ENSP00000480669.3:n.1897-415_1897-384delinsTCAGAAAAT
ENST00000673673.2:c.1732-28_1735delinsTCAGAAAAT
ENST00000231790.8:c.1897-28_1900delinsTCAGAAAAT
ENST00000413212.2:c.*815-28_*818delinsTCAGAAAAT
ENST00000432299.6:c.*1729-28_*1732delinsTCAGAAAAT
ENST00000447829.6:c.*1008-28_*1011delinsTCAGAAAAT
ENST00000539477.6:c.1174-28_1177delinsTCAGAAAAT
ENST00000616768.5:c.934-415_934-384delinsTCAGAAAAT	ENSP00000480669.2:n.934-415_934-384delinsTCAGAAAAT
ENST00000673673.1:c.1685-28_1688delinsTCAGAAAAT
ENST00000673741.1:n.931-28_934delinsTCAGAAAAT
ENST00000673889.1:n.1279-28_1282delinsTCAGAAAAT
ENST00000673897.1:c.*1689-28_*1692delinsTCAGAAAAT
ENST00000673899.1:c.1165-28_1168delinsTCAGAAAAT
ENST00000673947.1:c.*2037-28_*2040delinsTCAGAAAAT
ENST00000673972.1:c.*1775-28_*1778delinsTCAGAAAAT
ENST00000674019.1:c.1174-28_1177delinsTCAGAAAAT
ENST00000674111.1:c.*126-28_*129delinsTCAGAAAAT
ENST00000674125.1:n.608-28_611delinsTCAGAAAAT
ENST00000231790.6:c.1897-28_1900delinsTCAGAAAAT
ENST00000413740.1:c.291-1997_291-1966delinsTCAGAAAAT	ENSP00000416476.1:n.291-1997_291-1966delinsTCAGAAAAT
ENST00000435176.5:c.1603-28_1606delinsTCAGAAAAT
ENST00000450420.5:c.182-1997_182-1966delinsTCAGAAAAT	ENSP00000393006.1:n.182-1997_182-1966delinsTCAGAAAAT
ENST00000455445.6:c.1174-28_1177delinsTCAGAAAAT
ENST00000456676.6:c.1871+806_1871+837delinsTCAGAAAAT
ENST00000458205.6:c.1174-28_1177delinsTCAGAAAAT
ENST00000536378.5:c.1174-28_1177delinsTCAGAAAAT
ENST00000539477.5:c.1174-28_1177delinsTCAGAAAAT
NM_000249.3:c.1897-28_1900delinsTCAGAAAAT , LRG_216t1:c.1897-28_1900delinsTCAGAAAAT
NM_001167617.1:c.1603-28_1606delinsTCAGAAAAT
NM_001167618.1:c.1174-28_1177delinsTCAGAAAAT
NM_001167619.1:c.1174-28_1177delinsTCAGAAAAT
NM_001258271.1:c.1896+806_1896+837delinsTCAGAAAAT	NP_001245200.1:n.1896+806_1896+837delinsTCAGAAAAT
NM_001258273.1:c.1174-28_1177delinsTCAGAAAAT
NM_001258274.1:c.1174-28_1177delinsTCAGAAAAT
XM_005265161.1:c.1690-28_1693delinsTCAGAAAAT
XM_005265163.1:c.1174-28_1177delinsTCAGAAAAT
XM_005265164.1:c.1174-28_1177delinsTCAGAAAAT
XM_005265166.1:c.874-28_877delinsTCAGAAAAT
XM_011533727.1:c.823-28_826delinsTCAGAAAAT
NM_001167617.2:c.1603-28_1606delinsTCAGAAAAT
NM_001167618.2:c.1174-28_1177delinsTCAGAAAAT
NM_001167619.2:c.1174-28_1177delinsTCAGAAAAT
NM_001258274.2:c.1174-28_1177delinsTCAGAAAAT
NM_001354615.1:c.1174-28_1177delinsTCAGAAAAT
NM_001354616.1:c.1174-28_1177delinsTCAGAAAAT
NM_001354617.1:c.1174-28_1177delinsTCAGAAAAT
NM_001354618.1:c.1174-28_1177delinsTCAGAAAAT
NM_001354619.1:c.1174-28_1177delinsTCAGAAAAT
NM_001354620.1:c.1603-28_1606delinsTCAGAAAAT
NM_001354621.1:c.874-28_877delinsTCAGAAAAT
NM_001354622.1:c.874-28_877delinsTCAGAAAAT
NM_001354623.1:c.874-28_877delinsTCAGAAAAT
NM_001354624.1:c.823-28_826delinsTCAGAAAAT
NM_001354625.1:c.823-28_826delinsTCAGAAAAT
NM_001354626.1:c.823-28_826delinsTCAGAAAAT
NM_001354627.1:c.823-28_826delinsTCAGAAAAT
NM_001354628.1:c.1897-415_1897-384delinsTCAGAAAAT	NP_001341557.1:n.1897-415_1897-384delinsTCAGAAAAT
NM_001354629.1:c.1798-28_1801delinsTCAGAAAAT
NM_001354630.1:c.1732-28_1735delinsTCAGAAAAT
XM_005265161.2:c.1690-28_1693delinsTCAGAAAAT
XM_017006450.2:c.874-28_877delinsTCAGAAAAT
NM_000249.4:c.1897-28_1900delinsTCAGAAAAT
NM_001167617.3:c.1603-28_1606delinsTCAGAAAAT
NM_001167618.3:c.1174-28_1177delinsTCAGAAAAT
NM_001167619.3:c.1174-28_1177delinsTCAGAAAAT
NM_001258271.2:c.1896+806_1896+837delinsTCAGAAAAT	NP_001245200.1:n.1896+806_1896+837delinsTCAGAAAAT
NM_001258273.2:c.1174-28_1177delinsTCAGAAAAT
NM_001258274.3:c.1174-28_1177delinsTCAGAAAAT
NM_001354615.2:c.1174-28_1177delinsTCAGAAAAT
NM_001354616.2:c.1174-28_1177delinsTCAGAAAAT
NM_001354617.2:c.1174-28_1177delinsTCAGAAAAT
NM_001354618.2:c.1174-28_1177delinsTCAGAAAAT
NM_001354619.2:c.1174-28_1177delinsTCAGAAAAT
NM_001354620.2:c.1603-28_1606delinsTCAGAAAAT
NM_001354621.2:c.874-28_877delinsTCAGAAAAT
NM_001354622.2:c.874-28_877delinsTCAGAAAAT
NM_001354623.2:c.874-28_877delinsTCAGAAAAT
NM_001354624.2:c.823-28_826delinsTCAGAAAAT
NM_001354625.2:c.823-28_826delinsTCAGAAAAT
NM_001354626.2:c.823-28_826delinsTCAGAAAAT
NM_001354627.2:c.823-28_826delinsTCAGAAAAT
NM_001354628.2:c.1897-415_1897-384delinsTCAGAAAAT	NP_001341557.1:n.1897-415_1897-384delinsTCAGAAAAT
NM_001354629.2:c.1798-28_1801delinsTCAGAAAAT
NM_001354630.2:c.1732-28_1735delinsTCAGAAAAT