Canonical Allele Identifier: CA330792

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89851
• ClinVar RCV Id: RCV000075325
• MyVariant Identifiers: chr3:g.37084092_37089247del (hg19) ; chr3:g.37042601_37047756del (hg38)
• PubMed: PMID:12547705 ; PMID:15942939

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37042601_37047756del , CM000665.2:g.37042601_37047756del	GRCh38
NC_000003.11:g.37084092_37089247del , CM000665.1:g.37084092_37089247del	GRCh37
NC_000003.10:g.37059096_37064251del	NCBI36
NG_007109.2:g.54252_59407del , LRG_216:g.54252_59407del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1667+2307_1668-2730del	ENSP00000416476.2:n.1667+2307_1668-2730de...
ENST00000429117.6:c.1437+270_1602+73del
ENST00000450420.6:c.1559-7885_1559-2730del	ENSP00000393006.2:n.1559-7885_1559-2730de...
ENST00000456676.7:c.1731+270_1896+73del
ENST00000492474.6:c.1008+270_1173+73del
ENST00000616768.6:c.1731+270_1896+73del
ENST00000673673.2:c.1731+270_1732-761del	ENSP00000500979.2:n.1731+270_1732-761del
ENST00000231790.8:c.1731+270_1896+73del
ENST00000413212.2:c.*649+270_*814+73del
ENST00000432299.6:c.*1563+270_*1728+73del
ENST00000447829.6:c.*842+270_*1007+73del
ENST00000539477.6:c.1008+270_1173+73del
ENST00000616768.5:c.768+270_933+73del
ENST00000673673.1:c.1684+270_1685-761del
ENST00000673889.1:n.1113+270_1278+73del
ENST00000673897.1:c.*1523+270_*1688+73del
ENST00000673899.1:c.999+270_1164+73del
ENST00000673947.1:c.*1871+270_*2036+73del
ENST00000673972.1:c.*1609+270_*1774+73del
ENST00000674019.1:c.1008+270_1173+73del
ENST00000674111.1:c.1667+2307_*125+73del
ENST00000674125.1:n.442+270_607+73del
ENST00000231790.6:c.1731+270_1896+73del
ENST00000413740.1:c.290+2307_291-2730del	ENSP00000416476.1:n.290+2307_291-2730del
ENST00000435176.5:c.1437+270_1602+73del
ENST00000450420.5:c.182-7885_182-2730del	ENSP00000393006.1:n.182-7885_182-2730del
ENST00000455445.6:c.1008+270_1173+73del
ENST00000456676.6:c.1706+270_1871+73del
ENST00000458205.6:c.1008+270_1173+73del
ENST00000536378.5:c.1008+270_1173+73del
ENST00000539477.5:c.1008+270_1173+73del
NM_000249.3:c.1731+270_1896+73del , LRG_216t1:c.1731+270_1896+73del
NM_001167617.1:c.1437+270_1602+73del
NM_001167618.1:c.1008+270_1173+73del
NM_001167619.1:c.1008+270_1173+73del
NM_001258271.1:c.1731+270_1896+73del
NM_001258273.1:c.1008+270_1173+73del
NM_001258274.1:c.1008+270_1173+73del
XM_005265161.1:c.1524+270_1689+73del
XM_005265163.1:c.1008+270_1173+73del
XM_005265164.1:c.1008+270_1173+73del
XM_005265166.1:c.708+270_873+73del
XM_011533727.1:c.657+270_822+73del
NM_001167617.2:c.1437+270_1602+73del
NM_001167618.2:c.1008+270_1173+73del
NM_001167619.2:c.1008+270_1173+73del
NM_001258274.2:c.1008+270_1173+73del
NM_001354615.1:c.1008+270_1173+73del
NM_001354616.1:c.1008+270_1173+73del
NM_001354617.1:c.1008+270_1173+73del
NM_001354618.1:c.1008+270_1173+73del
NM_001354619.1:c.1008+270_1173+73del
NM_001354620.1:c.1437+270_1602+73del
NM_001354621.1:c.708+270_873+73del
NM_001354622.1:c.708+270_873+73del
NM_001354623.1:c.708+270_873+73del
NM_001354624.1:c.657+270_822+73del
NM_001354625.1:c.657+270_822+73del
NM_001354626.1:c.657+270_822+73del
NM_001354627.1:c.657+270_822+73del
NM_001354628.1:c.1731+270_1896+73del
NM_001354629.1:c.1632+270_1797+73del
NM_001354630.1:c.1731+270_1732-761del	NP_001341559.1:n.1731+270_1732-761del
XM_005265161.2:c.1524+270_1689+73del
XM_017006450.2:c.708+270_873+73del
NM_000249.4:c.1731+270_1896+73del
NM_001167617.3:c.1437+270_1602+73del
NM_001167618.3:c.1008+270_1173+73del
NM_001167619.3:c.1008+270_1173+73del
NM_001258271.2:c.1731+270_1896+73del
NM_001258273.2:c.1008+270_1173+73del
NM_001258274.3:c.1008+270_1173+73del
NM_001354615.2:c.1008+270_1173+73del
NM_001354616.2:c.1008+270_1173+73del
NM_001354617.2:c.1008+270_1173+73del
NM_001354618.2:c.1008+270_1173+73del
NM_001354619.2:c.1008+270_1173+73del
NM_001354620.2:c.1437+270_1602+73del
NM_001354621.2:c.708+270_873+73del
NM_001354622.2:c.708+270_873+73del
NM_001354623.2:c.708+270_873+73del
NM_001354624.2:c.657+270_822+73del
NM_001354625.2:c.657+270_822+73del
NM_001354626.2:c.657+270_822+73del
NM_001354627.2:c.657+270_822+73del
NM_001354628.2:c.1731+270_1896+73del
NM_001354629.2:c.1632+270_1797+73del
NM_001354630.2:c.1731+270_1732-761del	NP_001341559.1:n.1731+270_1732-761del