Canonical Allele Identifier: CA330794

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89860
• ClinVar RCV Id: RCV000075334
• MyVariant Identifiers: chr3:g.37086767_37089578del (hg19) ; chr3:g.37045276_37048087del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37045276_37048087del , CM000665.2:g.37045276_37048087del	GRCh38
NC_000003.11:g.37086767_37089578del , CM000665.1:g.37086767_37089578del	GRCh37
NC_000003.10:g.37061771_37064582del	NCBI36
NG_007109.2:g.56927_59738del , LRG_216:g.56927_59738del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1667+4982_1668-2399del	ENSP00000416476.2:n.1667+4982_1668-2399de...
ENST00000429117.6:c.1438-2243_1602+404del
ENST00000450420.6:c.1559-5210_1559-2399del	ENSP00000393006.2:n.1559-5210_1559-2399de...
ENST00000456676.7:c.1732-2243_1896+404del
ENST00000492474.6:c.1009-2243_1173+404del
ENST00000616768.6:c.1732-2243_1896+404del
ENST00000673673.2:c.1731+2945_1732-430del	ENSP00000500979.2:n.1731+2945_1732-430del...
ENST00000231790.8:c.1732-2243_1896+404del
ENST00000413212.2:c.*650-2243_*814+404del
ENST00000432299.6:c.*1564-2243_*1728+404del
ENST00000447829.6:c.*843-2243_*1007+404del
ENST00000539477.6:c.1009-2243_1173+404del
ENST00000616768.5:c.769-2243_933+404del
ENST00000673673.1:c.1684+2945_1685-430del
ENST00000673889.1:n.1114-2243_1278+404del
ENST00000673897.1:c.*1524-2243_*1688+404del
ENST00000673899.1:c.1000-2243_1164+404del
ENST00000673947.1:c.*1872-2243_*2036+404del
ENST00000673972.1:c.*1610-2243_*1774+404del
ENST00000674019.1:c.1009-2243_1173+404del
ENST00000674111.1:c.1668-2243_*125+404del
ENST00000674125.1:n.443-2243_607+404del
ENST00000231790.6:c.1732-2243_1896+404del
ENST00000413740.1:c.290+4982_291-2399del	ENSP00000416476.1:n.290+4982_291-2399del
ENST00000435176.5:c.1438-2243_1602+404del
ENST00000450420.5:c.182-5210_182-2399del	ENSP00000393006.1:n.182-5210_182-2399del
ENST00000455445.6:c.1009-2243_1173+404del
ENST00000456676.6:c.1707-2243_1871+404del
ENST00000458205.6:c.1009-2243_1173+404del
ENST00000536378.5:c.1009-2243_1173+404del
ENST00000539477.5:c.1009-2243_1173+404del
NM_000249.3:c.1732-2243_1896+404del , LRG_216t1:c.1732-2243_1896+404del
NM_001167617.1:c.1438-2243_1602+404del
NM_001167618.1:c.1009-2243_1173+404del
NM_001167619.1:c.1009-2243_1173+404del
NM_001258271.1:c.1732-2243_1896+404del
NM_001258273.1:c.1009-2243_1173+404del
NM_001258274.1:c.1009-2243_1173+404del
XM_005265161.1:c.1525-2243_1689+404del
XM_005265163.1:c.1009-2243_1173+404del
XM_005265164.1:c.1009-2243_1173+404del
XM_005265166.1:c.709-2243_873+404del
XM_011533727.1:c.658-2243_822+404del
NM_001167617.2:c.1438-2243_1602+404del
NM_001167618.2:c.1009-2243_1173+404del
NM_001167619.2:c.1009-2243_1173+404del
NM_001258274.2:c.1009-2243_1173+404del
NM_001354615.1:c.1009-2243_1173+404del
NM_001354616.1:c.1009-2243_1173+404del
NM_001354617.1:c.1009-2243_1173+404del
NM_001354618.1:c.1009-2243_1173+404del
NM_001354619.1:c.1009-2243_1173+404del
NM_001354620.1:c.1438-2243_1602+404del
NM_001354621.1:c.709-2243_873+404del
NM_001354622.1:c.709-2243_873+404del
NM_001354623.1:c.709-2243_873+404del
NM_001354624.1:c.658-2243_822+404del
NM_001354625.1:c.658-2243_822+404del
NM_001354626.1:c.658-2243_822+404del
NM_001354627.1:c.658-2243_822+404del
NM_001354628.1:c.1732-2243_1896+404del
NM_001354629.1:c.1633-2243_1797+404del
NM_001354630.1:c.1731+2945_1732-430del	NP_001341559.1:n.1731+2945_1732-430del
XM_005265161.2:c.1525-2243_1689+404del
XM_017006450.2:c.709-2243_873+404del
NM_000249.4:c.1732-2243_1896+404del
NM_001167617.3:c.1438-2243_1602+404del
NM_001167618.3:c.1009-2243_1173+404del
NM_001167619.3:c.1009-2243_1173+404del
NM_001258271.2:c.1732-2243_1896+404del
NM_001258273.2:c.1009-2243_1173+404del
NM_001258274.3:c.1009-2243_1173+404del
NM_001354615.2:c.1009-2243_1173+404del
NM_001354616.2:c.1009-2243_1173+404del
NM_001354617.2:c.1009-2243_1173+404del
NM_001354618.2:c.1009-2243_1173+404del
NM_001354619.2:c.1009-2243_1173+404del
NM_001354620.2:c.1438-2243_1602+404del
NM_001354621.2:c.709-2243_873+404del
NM_001354622.2:c.709-2243_873+404del
NM_001354623.2:c.709-2243_873+404del
NM_001354624.2:c.658-2243_822+404del
NM_001354625.2:c.658-2243_822+404del
NM_001354626.2:c.658-2243_822+404del
NM_001354627.2:c.658-2243_822+404del
NM_001354628.2:c.1732-2243_1896+404del
NM_001354629.2:c.1633-2243_1797+404del
NM_001354630.2:c.1731+2945_1732-430del	NP_001341559.1:n.1731+2945_1732-430del