Canonical Allele Identifier: CA009258

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90102
• ClinVar RCV Id: RCV000075588 ; RCV000524283 ; RCV001014941 ; RCV001193808 ; RCV003460708
• dbSNP Id: rs267607901
• MyVariant Identifiers: chr3:g.37092125_37092126dupAA (hg19) ; chr3:g.37050634_37050635dupAA (hg38)
• PubMed: PMID:11151427 ; PMID:15849733 ; PMID:15926618 ; PMID:28874130

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050634_37050635dup , CM000665.2:g.37050634_37050635dup	GRCh38
NC_000003.11:g.37092125_37092126dup , CM000665.1:g.37092125_37092126dup	GRCh37
NC_000003.10:g.37067129_37067130dup	NCBI36
NG_007109.2:g.62285_62286dup , LRG_216:g.62285_62286dup
NG_053016.1:g.131184_131185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1816_1817dup	ENSP00000416476.2:p.Arg609Ter
ENST00000429117.6:c.1958_1959dup	ENSP00000407019.2:p.Val654LysfsTer?
ENST00000456676.7:c.2045_2046dup	ENSP00000416687.3:p.Val683LysfsTer?
ENST00000492474.6:c.1529_1530dup	ENSP00000518393.1:p.Val511LysfsTer?
ENST00000616768.6:c.2159_2160dup	ENSP00000480669.3:p.Val721LysfsTer?
ENST00000673673.2:c.2087_2088dup	ENSP00000500979.2:p.Val697LysfsTer?
ENST00000231790.8:c.2252_2253dup MANE Select	ENSP00000231790.3:p.Val752LysfsTer?
ENST00000413212.2:c.*1170_*1171dup	ENSP00000400844.2:n.*1170_*1171dup
ENST00000432299.6:c.*2084_*2085dup	ENSP00000416783.1:n.*2084_*2085dup
ENST00000447829.6:c.*1363_*1364dup	ENSP00000399329.2:n.*1363_*1364dup
ENST00000539477.6:c.1529_1530dup	ENSP00000443665.1:p.Val511LysfsTer?
ENST00000616768.5:c.1196_1197dup	ENSP00000480669.2:p.Val400LysfsTer?
ENST00000673673.1:c.2040_2041dup
ENST00000673741.1:n.1286_1287dup
ENST00000673889.1:n.1634_1635dup
ENST00000673897.1:c.*2044_*2045dup	ENSP00000501109.1:n.*2044_*2045dup
ENST00000673899.1:c.1520_1521dup	ENSP00000501030.1:p.Val508LysfsTer?
ENST00000673947.1:c.*2392_*2393dup	ENSP00000501304.1:n.*2392_*2393dup
ENST00000673972.1:c.*2130_*2131dup	ENSP00000501281.1:n.*2130_*2131dup
ENST00000674019.1:c.1529_1530dup	ENSP00000501081.1:p.Val511LysfsTer?
ENST00000674111.1:c.*481_*482dup	ENSP00000501162.1:n.*481_*482dup
ENST00000674125.1:n.963_964dup
ENST00000231790.6:c.2252_2253dup	ENSP00000231790.2:p.Val752LysfsTer?
ENST00000435176.5:c.1958_1959dup	ENSP00000402564.1:p.Val654LysfsTer?
ENST00000455445.6:c.1529_1530dup	ENSP00000398272.2:p.Val511LysfsTer?
ENST00000456676.6:c.2020_2021dup
ENST00000458205.6:c.1529_1530dup	ENSP00000402667.2:p.Val511LysfsTer?
ENST00000536378.5:c.1529_1530dup	ENSP00000444286.2:p.Val511LysfsTer?
ENST00000539477.5:c.1529_1530dup	ENSP00000443665.1:p.Val511LysfsTer?
NM_000249.3:c.2252_2253dup , LRG_216t1:c.2252_2253dup	NP_000240.1:p.Val752LysfsTer?
NM_001167617.1:c.1958_1959dup	NP_001161089.1:p.Val654LysfsTer?
NM_001167618.1:c.1529_1530dup	NP_001161090.1:p.Val511LysfsTer?
NM_001167619.1:c.1529_1530dup	NP_001161091.1:p.Val511LysfsTer?
NM_001258271.1:c.2045_2046dup	NP_001245200.1:p.Val683LysfsTer?
NM_001258273.1:c.1529_1530dup	NP_001245202.1:p.Val511LysfsTer?
NM_001258274.1:c.1529_1530dup	NP_001245203.1:p.Val511LysfsTer?
XM_005265161.1:c.2045_2046dup	XP_005265218.1:p.Val683LysfsTer?
XM_005265163.1:c.1529_1530dup	XP_005265220.1:p.Val511LysfsTer?
XM_005265164.1:c.1529_1530dup	XP_005265221.1:p.Val511LysfsTer?
XM_005265166.1:c.1229_1230dup	XP_005265223.1:p.Val411LysfsTer?
XM_011533727.1:c.1178_1179dup	XP_011532029.1:p.Val394LysfsTer?
NM_001167617.2:c.1958_1959dup	NP_001161089.1:p.Val654LysfsTer?
NM_001167618.2:c.1529_1530dup	NP_001161090.1:p.Val511LysfsTer?
NM_001167619.2:c.1529_1530dup	NP_001161091.1:p.Val511LysfsTer?
NM_001258274.2:c.1529_1530dup	NP_001245203.1:p.Val511LysfsTer?
NM_001354615.1:c.1529_1530dup	NP_001341544.1:p.Val511LysfsTer?
NM_001354616.1:c.1529_1530dup	NP_001341545.1:p.Val511LysfsTer?
NM_001354617.1:c.1529_1530dup	NP_001341546.1:p.Val511LysfsTer?
NM_001354618.1:c.1529_1530dup	NP_001341547.1:p.Val511LysfsTer?
NM_001354619.1:c.1529_1530dup	NP_001341548.1:p.Val511LysfsTer?
NM_001354620.1:c.1958_1959dup	NP_001341549.1:p.Val654LysfsTer?
NM_001354621.1:c.1229_1230dup	NP_001341550.1:p.Val411LysfsTer?
NM_001354622.1:c.1229_1230dup	NP_001341551.1:p.Val411LysfsTer?
NM_001354623.1:c.1229_1230dup	NP_001341552.1:p.Val411LysfsTer?
NM_001354624.1:c.1178_1179dup	NP_001341553.1:p.Val394LysfsTer?
NM_001354625.1:c.1178_1179dup	NP_001341554.1:p.Val394LysfsTer?
NM_001354626.1:c.1178_1179dup	NP_001341555.1:p.Val394LysfsTer?
NM_001354627.1:c.1178_1179dup	NP_001341556.1:p.Val394LysfsTer?
NM_001354628.1:c.2159_2160dup	NP_001341557.1:p.Val721LysfsTer?
NM_001354629.1:c.2153_2154dup	NP_001341558.1:p.Val719LysfsTer?
NM_001354630.1:c.2087_2088dup	NP_001341559.1:p.Val697LysfsTer?
XM_005265161.2:c.2045_2046dup	XP_005265218.1:p.Val683LysfsTer?
XM_017006450.2:c.1229_1230dup	XP_016861939.1:p.Val411LysfsTer?
NM_000249.4:c.2252_2253dup MANE Select	NP_000240.1:p.Val752LysfsTer?
NM_001167617.3:c.1958_1959dup	NP_001161089.1:p.Val654LysfsTer?
NM_001167618.3:c.1529_1530dup	NP_001161090.1:p.Val511LysfsTer?
NM_001167619.3:c.1529_1530dup	NP_001161091.1:p.Val511LysfsTer?
NM_001258271.2:c.2045_2046dup	NP_001245200.1:p.Val683LysfsTer?
NM_001258273.2:c.1529_1530dup	NP_001245202.1:p.Val511LysfsTer?
NM_001258274.3:c.1529_1530dup	NP_001245203.1:p.Val511LysfsTer?
NM_001354615.2:c.1529_1530dup	NP_001341544.1:p.Val511LysfsTer?
NM_001354616.2:c.1529_1530dup	NP_001341545.1:p.Val511LysfsTer?
NM_001354617.2:c.1529_1530dup	NP_001341546.1:p.Val511LysfsTer?
NM_001354618.2:c.1529_1530dup	NP_001341547.1:p.Val511LysfsTer?
NM_001354619.2:c.1529_1530dup	NP_001341548.1:p.Val511LysfsTer?
NM_001354620.2:c.1958_1959dup	NP_001341549.1:p.Val654LysfsTer?
NM_001354621.2:c.1229_1230dup	NP_001341550.1:p.Val411LysfsTer?
NM_001354622.2:c.1229_1230dup	NP_001341551.1:p.Val411LysfsTer?
NM_001354623.2:c.1229_1230dup	NP_001341552.1:p.Val411LysfsTer?
NM_001354624.2:c.1178_1179dup	NP_001341553.1:p.Val394LysfsTer?
NM_001354625.2:c.1178_1179dup	NP_001341554.1:p.Val394LysfsTer?
NM_001354626.2:c.1178_1179dup	NP_001341555.1:p.Val394LysfsTer?
NM_001354627.2:c.1178_1179dup	NP_001341556.1:p.Val394LysfsTer?
NM_001354628.2:c.2159_2160dup	NP_001341557.1:p.Val721LysfsTer?
NM_001354629.2:c.2153_2154dup	NP_001341558.1:p.Val719LysfsTer?
NM_001354630.2:c.2087_2088dup	NP_001341559.1:p.Val697LysfsTer?