Canonical Allele Identifier: CA658760401

Gene: MLH1

Linked Data

• ClinVar Variation Id: 1332889
• ClinVar RCV Id: RCV001806462 ; RCV002287900
• PubMed: PMID:7584969 ; PMID:7584997 ; PMID:11389087 ; PMID:16042583

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37044578_37048115del , CM000665.2:g.37044578_37048115del	GRCh38
NC_000003.11:g.37086069_37089606del , CM000665.1:g.37086069_37089606del	GRCh37
NC_000003.10:g.37061073_37064610del	NCBI36
NG_007109.2:g.56229_59766del , LRG_216:g.56229_59766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1667+4284_1668-2371del	ENSP00000416476.2:n.1667+4284_1668-2371de...
ENST00000429117.6:c.1437+2247_1603-402del
ENST00000450420.6:c.1559-5908_1559-2371del	ENSP00000393006.2:n.1559-5908_1559-2371de...
ENST00000456676.7:c.1731+2247_1896+432del
ENST00000492474.6:c.1008+2247_1174-402del
ENST00000616768.6:c.1731+2247_1896+432del
ENST00000673673.2:c.1731+2247_1732-402del	ENSP00000500979.2:n.1731+2247_1732-402del...
ENST00000231790.8:c.1731+2247_1897-402del
ENST00000413212.2:c.*649+2247_*815-402del
ENST00000432299.6:c.*1563+2247_*1729-402del
ENST00000447829.6:c.*842+2247_*1008-402del
ENST00000539477.6:c.1008+2247_1174-402del
ENST00000616768.5:c.768+2247_933+432del
ENST00000673673.1:c.1684+2247_1685-402del
ENST00000673889.1:n.1113+2247_1279-402del
ENST00000673897.1:c.*1523+2247_*1689-402del
ENST00000673899.1:c.999+2247_1165-402del
ENST00000673947.1:c.*1871+2247_*2037-402del
ENST00000673972.1:c.*1609+2247_*1775-402del
ENST00000674019.1:c.1008+2247_1174-402del
ENST00000674111.1:c.1668-2941_*126-402del
ENST00000674125.1:n.442+2247_608-402del
ENST00000231790.6:c.1731+2247_1897-402del
ENST00000413740.1:c.290+4284_291-2371del	ENSP00000416476.1:n.290+4284_291-2371del
ENST00000435176.5:c.1437+2247_1603-402del
ENST00000450420.5:c.182-5908_182-2371del	ENSP00000393006.1:n.182-5908_182-2371del
ENST00000455445.6:c.1008+2247_1174-402del
ENST00000456676.6:c.1706+2247_1871+432del
ENST00000458205.6:c.1008+2247_1174-402del
ENST00000536378.5:c.1008+2247_1174-402del
ENST00000539477.5:c.1008+2247_1174-402del
NM_000249.3:c.1731+2247_1897-402del , LRG_216t1:c.1731+2247_1897-402del
NM_001167617.1:c.1437+2247_1603-402del
NM_001167618.1:c.1008+2247_1174-402del
NM_001167619.1:c.1008+2247_1174-402del
NM_001258271.1:c.1731+2247_1896+432del
NM_001258273.1:c.1008+2247_1174-402del
NM_001258274.1:c.1008+2247_1174-402del
XM_005265161.1:c.1524+2247_1690-402del
XM_005265163.1:c.1008+2247_1174-402del
XM_005265164.1:c.1008+2247_1174-402del
XM_005265166.1:c.708+2247_874-402del
XM_011533727.1:c.657+2247_823-402del
NM_001167617.2:c.1437+2247_1603-402del
NM_001167618.2:c.1008+2247_1174-402del
NM_001167619.2:c.1008+2247_1174-402del
NM_001258274.2:c.1008+2247_1174-402del
NM_001354615.1:c.1008+2247_1174-402del
NM_001354616.1:c.1008+2247_1174-402del
NM_001354617.1:c.1008+2247_1174-402del
NM_001354618.1:c.1008+2247_1174-402del
NM_001354619.1:c.1008+2247_1174-402del
NM_001354620.1:c.1437+2247_1603-402del
NM_001354621.1:c.708+2247_874-402del
NM_001354622.1:c.708+2247_874-402del
NM_001354623.1:c.708+2247_874-402del
NM_001354624.1:c.657+2247_823-402del
NM_001354625.1:c.657+2247_823-402del
NM_001354626.1:c.657+2247_823-402del
NM_001354627.1:c.657+2247_823-402del
NM_001354628.1:c.1731+2247_1896+432del
NM_001354629.1:c.1632+2247_1798-402del
NM_001354630.1:c.1731+2247_1732-402del	NP_001341559.1:n.1731+2247_1732-402del
XM_005265161.2:c.1524+2247_1690-402del
XM_017006450.2:c.708+2247_874-402del
NM_000249.4:c.1731+2247_1897-402del
NM_001167617.3:c.1437+2247_1603-402del
NM_001167618.3:c.1008+2247_1174-402del
NM_001167619.3:c.1008+2247_1174-402del
NM_001258271.2:c.1731+2247_1896+432del
NM_001258273.2:c.1008+2247_1174-402del
NM_001258274.3:c.1008+2247_1174-402del
NM_001354615.2:c.1008+2247_1174-402del
NM_001354616.2:c.1008+2247_1174-402del
NM_001354617.2:c.1008+2247_1174-402del
NM_001354618.2:c.1008+2247_1174-402del
NM_001354619.2:c.1008+2247_1174-402del
NM_001354620.2:c.1437+2247_1603-402del
NM_001354621.2:c.708+2247_874-402del
NM_001354622.2:c.708+2247_874-402del
NM_001354623.2:c.708+2247_874-402del
NM_001354624.2:c.657+2247_823-402del
NM_001354625.2:c.657+2247_823-402del
NM_001354626.2:c.657+2247_823-402del
NM_001354627.2:c.657+2247_823-402del
NM_001354628.2:c.1731+2247_1896+432del
NM_001354629.2:c.1632+2247_1798-402del
NM_001354630.2:c.1731+2247_1732-402del	NP_001341559.1:n.1731+2247_1732-402del