Canonical Allele Identifier: CA2499216708

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1050518
• ClinVar RCV Id: RCV001358053
• dbSNP Id: rs2125984067

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37047517_37047684del , CM000665.2:g.37047517_37047684del	GRCh38
NC_000003.11:g.37089008_37089175del , CM000665.1:g.37089008_37089175del	GRCh37
NC_000003.10:g.37064012_37064179del	NCBI36
NG_007109.2:g.59168_59335del , LRG_216:g.59168_59335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-2969_1668-2802del	ENSP00000416476.2:n.1668-2969_1668-2802del
ENST00000429117.6:c.1438-2_1602+1del
ENST00000450420.6:c.1559-2969_1559-2802del	ENSP00000393006.2:n.1559-2969_1559-2802del
ENST00000456676.7:c.1732-2_1896+1del
ENST00000492474.6:c.1009-2_1173+1del
ENST00000616768.6:c.1732-2_1896+1del
ENST00000673673.2:c.1732-1000_1732-833del	ENSP00000500979.2:n.1732-1000_1732-833del
ENST00000231790.8:c.1732-2_1896+1del
ENST00000413212.2:c.*650-2_*814+1del
ENST00000432299.6:c.*1564-2_*1728+1del
ENST00000441265.6:c.945-2_*126del
ENST00000447829.6:c.*843-2_*1007+1del
ENST00000539477.6:c.1009-2_1173+1del
ENST00000616768.5:c.769-2_933+1del
ENST00000673673.1:c.1685-1000_1685-833del
ENST00000673715.1:c.1732-2_1897del
ENST00000673741.1:n.764_930+1del
ENST00000673889.1:n.1114-2_1278+1del
ENST00000673897.1:c.*1524-2_*1688+1del
ENST00000673899.1:c.1000-2_1164+1del
ENST00000673947.1:c.*1872-2_*2036+1del
ENST00000673972.1:c.*1610-2_*1774+1del
ENST00000674019.1:c.1009-2_1173+1del
ENST00000674111.1:c.1668-2_*125+1del
ENST00000674125.1:n.443-2_607+1del
ENST00000231790.6:c.1732-2_1896+1del
ENST00000413740.1:c.291-2969_291-2802del	ENSP00000416476.1:n.291-2969_291-2802del
ENST00000435176.5:c.1438-2_1602+1del
ENST00000450420.5:c.182-2969_182-2802del	ENSP00000393006.1:n.182-2969_182-2802del
ENST00000455445.6:c.1009-2_1173+1del
ENST00000456676.6:c.1707-2_1871+1del
ENST00000458205.6:c.1009-2_1173+1del
ENST00000536378.5:c.1009-2_1173+1del
ENST00000539477.5:c.1009-2_1173+1del
ENST00000616768.4:c.500-2_665del
NM_000249.3:c.1732-2_1896+1del , LRG_216t1:c.1732-2_1896+1del
NM_001167617.1:c.1438-2_1602+1del
NM_001167618.1:c.1009-2_1173+1del
NM_001167619.1:c.1009-2_1173+1del
NM_001258271.1:c.1732-2_1896+1del
NM_001258273.1:c.1009-2_1173+1del
NM_001258274.1:c.1009-2_1173+1del
XM_005265161.1:c.1525-2_1689+1del
XM_005265163.1:c.1009-2_1173+1del
XM_005265164.1:c.1009-2_1173+1del
XM_005265166.1:c.709-2_873+1del
XM_011533727.1:c.658-2_822+1del
NM_001167617.2:c.1438-2_1602+1del
NM_001167618.2:c.1009-2_1173+1del
NM_001167619.2:c.1009-2_1173+1del
NM_001258274.2:c.1009-2_1173+1del
NM_001354615.1:c.1009-2_1173+1del
NM_001354616.1:c.1009-2_1173+1del
NM_001354617.1:c.1009-2_1173+1del
NM_001354618.1:c.1009-2_1173+1del
NM_001354619.1:c.1009-2_1173+1del
NM_001354620.1:c.1438-2_1602+1del
NM_001354621.1:c.709-2_873+1del
NM_001354622.1:c.709-2_873+1del
NM_001354623.1:c.709-2_873+1del
NM_001354624.1:c.658-2_822+1del
NM_001354625.1:c.658-2_822+1del
NM_001354626.1:c.658-2_822+1del
NM_001354627.1:c.658-2_822+1del
NM_001354628.1:c.1732-2_1896+1del
NM_001354629.1:c.1633-2_1797+1del
NM_001354630.1:c.1732-1000_1732-833del	NP_001341559.1:n.1732-1000_1732-833del
XM_005265161.2:c.1525-2_1689+1del
XM_017006450.2:c.709-2_873+1del
NM_000249.4:c.1732-2_1896+1del
NM_001167617.3:c.1438-2_1602+1del
NM_001167618.3:c.1009-2_1173+1del
NM_001167619.3:c.1009-2_1173+1del
NM_001258271.2:c.1732-2_1896+1del
NM_001258273.2:c.1009-2_1173+1del
NM_001258274.3:c.1009-2_1173+1del
NM_001354615.2:c.1009-2_1173+1del
NM_001354616.2:c.1009-2_1173+1del
NM_001354617.2:c.1009-2_1173+1del
NM_001354618.2:c.1009-2_1173+1del
NM_001354619.2:c.1009-2_1173+1del
NM_001354620.2:c.1438-2_1602+1del
NM_001354621.2:c.709-2_873+1del
NM_001354622.2:c.709-2_873+1del
NM_001354623.2:c.709-2_873+1del
NM_001354624.2:c.658-2_822+1del
NM_001354625.2:c.658-2_822+1del
NM_001354626.2:c.658-2_822+1del
NM_001354627.2:c.658-2_822+1del
NM_001354628.2:c.1732-2_1896+1del
NM_001354629.2:c.1633-2_1797+1del
NM_001354630.2:c.1732-1000_1732-833del	NP_001341559.1:n.1732-1000_1732-833del