Canonical Allele Identifier: CA006911
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 89888
ClinVar RCV Id: RCV001013138 RCV001250015 RCV002307389 RCV002460909
dbSNP Id: rs63750035
gnomAD v4: 3-37047565-CAG-C
MyVariant Identifiers: chr3:g.37089061_37089062del (hg19) chr3:g.37047570_37047571del (hg38)
PubMed: PMID:8571956 PMID:9311737 PMID:10448273 PMID:17440981
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37047570_37047571del , CM000665.2:g.37047570_37047571del GRCh38
NC_000003.11:g.37089061_37089062del , CM000665.1:g.37089061_37089062del GRCh37
NC_000003.10:g.37064065_37064066del NCBI36
NG_007109.2:g.59221_59222del , LRG_216:g.59221_59222del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1668-2916_1668-2915del ENSP00000416476.2:n.1668-2916_1668-2915de...
ENST00000429117.6:c.1489_1490del ENSP00000407019.2:p.Ser497TrpfsTer14
ENST00000450420.6:c.1559-2916_1559-2915del ENSP00000393006.2:n.1559-2916_1559-2915de...
ENST00000456676.7:c.1783_1784del ENSP00000416687.3:p.Ser595TrpfsTer14
ENST00000492474.6:c.1060_1061del ENSP00000518393.1:p.Ser354TrpfsTer14
ENST00000616768.6:c.1783_1784del ENSP00000480669.3:p.Ser595TrpfsTer14
ENST00000673673.2:c.1732-947_1732-946del ENSP00000500979.2:n.1732-947_1732-946del
ENST00000231790.8:c.1783_1784del MANE Select ENSP00000231790.3:p.Ser595TrpfsTer14
ENST00000413212.2:c.*701_*702del ENSP00000400844.2:n.*701_*702del
ENST00000432299.6:c.*1615_*1616del ENSP00000416783.1:n.*1615_*1616del
ENST00000441265.6:c.*12_*13del ENSP00000398392.2:n.*12_*13del
ENST00000447829.6:c.*894_*895del ENSP00000399329.2:n.*894_*895del
ENST00000539477.6:c.1060_1061del ENSP00000443665.1:p.Ser354TrpfsTer14
ENST00000616768.5:c.820_821del ENSP00000480669.2:p.Ser274TrpfsTer14
ENST00000673673.1:c.1685-947_1685-946del
ENST00000673715.1:c.1783_1784del ENSP00000501301.1:p.Ser595TrpfsTer14
ENST00000673741.1:n.817_818del
ENST00000673889.1:n.1165_1166del
ENST00000673897.1:c.*1575_*1576del ENSP00000501109.1:n.*1575_*1576del
ENST00000673899.1:c.1051_1052del ENSP00000501030.1:p.Ser351TrpfsTer14
ENST00000673947.1:c.*1923_*1924del ENSP00000501304.1:n.*1923_*1924del
ENST00000673972.1:c.*1661_*1662del ENSP00000501281.1:n.*1661_*1662del
ENST00000673990.1:n.1674_1675del
ENST00000674019.1:c.1060_1061del ENSP00000501081.1:p.Ser354TrpfsTer14
ENST00000674111.1:c.*12_*13del ENSP00000501162.1:n.*12_*13del
ENST00000674125.1:n.494_495del
ENST00000231790.6:c.1783_1784del ENSP00000231790.2:p.Ser595TrpfsTer14
ENST00000413740.1:c.291-2916_291-2915del ENSP00000416476.1:n.291-2916_291-2915del
ENST00000435176.5:c.1489_1490del ENSP00000402564.1:p.Ser497TrpfsTer14
ENST00000450420.5:c.182-2916_182-2915del ENSP00000393006.1:n.182-2916_182-2915del
ENST00000455445.6:c.1060_1061del ENSP00000398272.2:p.Ser354TrpfsTer14
ENST00000456676.6:c.1758_1759del
ENST00000458205.6:c.1060_1061del ENSP00000402667.2:p.Ser354TrpfsTer14
ENST00000536378.5:c.1060_1061del ENSP00000444286.2:p.Ser354TrpfsTer14
ENST00000539477.5:c.1060_1061del ENSP00000443665.1:p.Ser354TrpfsTer14
ENST00000616768.4:c.551_552del
NM_000249.3:c.1783_1784del , LRG_216t1:c.1783_1784del NP_000240.1:p.Ser595TrpfsTer14
NM_001167617.1:c.1489_1490del NP_001161089.1:p.Ser497TrpfsTer14
NM_001167618.1:c.1060_1061del NP_001161090.1:p.Ser354TrpfsTer14
NM_001167619.1:c.1060_1061del NP_001161091.1:p.Ser354TrpfsTer14
NM_001258271.1:c.1783_1784del NP_001245200.1:p.Ser595TrpfsTer14
NM_001258273.1:c.1060_1061del NP_001245202.1:p.Ser354TrpfsTer14
NM_001258274.1:c.1060_1061del NP_001245203.1:p.Ser354TrpfsTer14
XM_005265161.1:c.1576_1577del XP_005265218.1:p.Ser526TrpfsTer14
XM_005265163.1:c.1060_1061del XP_005265220.1:p.Ser354TrpfsTer14
XM_005265164.1:c.1060_1061del XP_005265221.1:p.Ser354TrpfsTer14
XM_005265166.1:c.760_761del XP_005265223.1:p.Ser254TrpfsTer14
XM_011533727.1:c.709_710del XP_011532029.1:p.Ser237TrpfsTer14
NM_001167617.2:c.1489_1490del NP_001161089.1:p.Ser497TrpfsTer14
NM_001167618.2:c.1060_1061del NP_001161090.1:p.Ser354TrpfsTer14
NM_001167619.2:c.1060_1061del NP_001161091.1:p.Ser354TrpfsTer14
NM_001258274.2:c.1060_1061del NP_001245203.1:p.Ser354TrpfsTer14
NM_001354615.1:c.1060_1061del NP_001341544.1:p.Ser354TrpfsTer14
NM_001354616.1:c.1060_1061del NP_001341545.1:p.Ser354TrpfsTer14
NM_001354617.1:c.1060_1061del NP_001341546.1:p.Ser354TrpfsTer14
NM_001354618.1:c.1060_1061del NP_001341547.1:p.Ser354TrpfsTer14
NM_001354619.1:c.1060_1061del NP_001341548.1:p.Ser354TrpfsTer14
NM_001354620.1:c.1489_1490del NP_001341549.1:p.Ser497TrpfsTer14
NM_001354621.1:c.760_761del NP_001341550.1:p.Ser254TrpfsTer14
NM_001354622.1:c.760_761del NP_001341551.1:p.Ser254TrpfsTer14
NM_001354623.1:c.760_761del NP_001341552.1:p.Ser254TrpfsTer14
NM_001354624.1:c.709_710del NP_001341553.1:p.Ser237TrpfsTer14
NM_001354625.1:c.709_710del NP_001341554.1:p.Ser237TrpfsTer14
NM_001354626.1:c.709_710del NP_001341555.1:p.Ser237TrpfsTer14
NM_001354627.1:c.709_710del NP_001341556.1:p.Ser237TrpfsTer14
NM_001354628.1:c.1783_1784del NP_001341557.1:p.Ser595TrpfsTer14
NM_001354629.1:c.1684_1685del NP_001341558.1:p.Ser562TrpfsTer14
NM_001354630.1:c.1732-947_1732-946del NP_001341559.1:n.1732-947_1732-946del
XM_005265161.2:c.1576_1577del XP_005265218.1:p.Ser526TrpfsTer14
XM_017006450.2:c.760_761del XP_016861939.1:p.Ser254TrpfsTer14
NM_000249.4:c.1783_1784del MANE Select NP_000240.1:p.Ser595TrpfsTer14
NM_001167617.3:c.1489_1490del NP_001161089.1:p.Ser497TrpfsTer14
NM_001167618.3:c.1060_1061del NP_001161090.1:p.Ser354TrpfsTer14
NM_001167619.3:c.1060_1061del NP_001161091.1:p.Ser354TrpfsTer14
NM_001258271.2:c.1783_1784del NP_001245200.1:p.Ser595TrpfsTer14
NM_001258273.2:c.1060_1061del NP_001245202.1:p.Ser354TrpfsTer14
NM_001258274.3:c.1060_1061del NP_001245203.1:p.Ser354TrpfsTer14
NM_001354615.2:c.1060_1061del NP_001341544.1:p.Ser354TrpfsTer14
NM_001354616.2:c.1060_1061del NP_001341545.1:p.Ser354TrpfsTer14
NM_001354617.2:c.1060_1061del NP_001341546.1:p.Ser354TrpfsTer14
NM_001354618.2:c.1060_1061del NP_001341547.1:p.Ser354TrpfsTer14
NM_001354619.2:c.1060_1061del NP_001341548.1:p.Ser354TrpfsTer14
NM_001354620.2:c.1489_1490del NP_001341549.1:p.Ser497TrpfsTer14
NM_001354621.2:c.760_761del NP_001341550.1:p.Ser254TrpfsTer14
NM_001354622.2:c.760_761del NP_001341551.1:p.Ser254TrpfsTer14
NM_001354623.2:c.760_761del NP_001341552.1:p.Ser254TrpfsTer14
NM_001354624.2:c.709_710del NP_001341553.1:p.Ser237TrpfsTer14
NM_001354625.2:c.709_710del NP_001341554.1:p.Ser237TrpfsTer14
NM_001354626.2:c.709_710del NP_001341555.1:p.Ser237TrpfsTer14
NM_001354627.2:c.709_710del NP_001341556.1:p.Ser237TrpfsTer14
NM_001354628.2:c.1783_1784del NP_001341557.1:p.Ser595TrpfsTer14
NM_001354629.2:c.1684_1685del NP_001341558.1:p.Ser562TrpfsTer14
NM_001354630.2:c.1732-947_1732-946del NP_001341559.1:n.1732-947_1732-946del
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