Canonical Allele Identifier: CA009304
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90109
dbSNP Id: rs1553666143

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050651dup , CM000665.2:g.37050651dup GRCh38
NC_000003.11:g.37092142dup , CM000665.1:g.37092142dup GRCh37
NC_000003.10:g.37067146dup NCBI36
NG_007109.2:g.62302dup , LRG_216:g.62302dup
NG_053016.1:g.131168dup

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1833dup
ENST00000429117.6:c.1975dup ENSP00000407019.2:p.Ter659LeuextTer?
ENST00000456676.7:c.2062dup ENSP00000416687.3:p.Ter688LeuextTer?
ENST00000492474.6:c.1546dup ENSP00000518393.1:p.Ter516LeuextTer?
ENST00000616768.6:c.2176dup ENSP00000480669.3:p.Ter726LeuextTer?
ENST00000673673.2:c.2104dup ENSP00000500979.2:p.Ter702LeuextTer?
ENST00000231790.8:c.2269dup MANE Select ENSP00000231790.3:p.Ter757LeuextTer?
ENST00000413212.2:c.*1187dup ENSP00000400844.2:n.*1187dup
ENST00000432299.6:c.*2101dup ENSP00000416783.1:n.*2101dup
ENST00000447829.6:c.*1380dup ENSP00000399329.2:n.*1380dup
ENST00000539477.6:c.1546dup ENSP00000443665.1:p.Ter516LeuextTer?
ENST00000616768.5:c.1213dup ENSP00000480669.2:p.Ter405LeuextTer?
ENST00000673673.1:c.2057dup
ENST00000673741.1:n.1303dup
ENST00000673889.1:n.1651dup
ENST00000673897.1:c.*2061dup ENSP00000501109.1:n.*2061dup
ENST00000673899.1:c.1537dup ENSP00000501030.1:p.Ter513LeuextTer?
ENST00000673947.1:c.*2409dup ENSP00000501304.1:n.*2409dup
ENST00000673972.1:c.*2147dup ENSP00000501281.1:n.*2147dup
ENST00000674019.1:c.1546dup ENSP00000501081.1:p.Ter516LeuextTer?
ENST00000674111.1:c.*498dup ENSP00000501162.1:n.*498dup
ENST00000674125.1:n.980dup
ENST00000231790.6:c.2269dup ENSP00000231790.2:p.Ter757LeuextTer?
ENST00000435176.5:c.1975dup ENSP00000402564.1:p.Ter659LeuextTer?
ENST00000455445.6:c.1546dup ENSP00000398272.2:p.Ter516LeuextTer?
ENST00000456676.6:c.2037dup
ENST00000458205.6:c.1546dup ENSP00000402667.2:p.Ter516LeuextTer?
ENST00000536378.5:c.1546dup ENSP00000444286.2:p.Ter516LeuextTer?
ENST00000539477.5:c.1546dup ENSP00000443665.1:p.Ter516LeuextTer?
NM_000249.3:c.2269dup , LRG_216t1:c.2269dup NP_000240.1:p.Ter757LeuextTer?
NM_001167617.1:c.1975dup NP_001161089.1:p.Ter659LeuextTer?
NM_001167618.1:c.1546dup NP_001161090.1:p.Ter516LeuextTer?
NM_001167619.1:c.1546dup NP_001161091.1:p.Ter516LeuextTer?
NM_001258271.1:c.2062dup NP_001245200.1:p.Ter688LeuextTer?
NM_001258273.1:c.1546dup NP_001245202.1:p.Ter516LeuextTer?
NM_001258274.1:c.1546dup NP_001245203.1:p.Ter516LeuextTer?
XM_005265161.1:c.2062dup XP_005265218.1:p.Ter688LeuextTer?
XM_005265163.1:c.1546dup XP_005265220.1:p.Ter516LeuextTer?
XM_005265164.1:c.1546dup XP_005265221.1:p.Ter516LeuextTer?
XM_005265166.1:c.1246dup XP_005265223.1:p.Ter416LeuextTer?
XM_011533727.1:c.1195dup XP_011532029.1:p.Ter399LeuextTer?
NM_001167617.2:c.1975dup NP_001161089.1:p.Ter659LeuextTer?
NM_001167618.2:c.1546dup NP_001161090.1:p.Ter516LeuextTer?
NM_001167619.2:c.1546dup NP_001161091.1:p.Ter516LeuextTer?
NM_001258274.2:c.1546dup NP_001245203.1:p.Ter516LeuextTer?
NM_001354615.1:c.1546dup NP_001341544.1:p.Ter516LeuextTer?
NM_001354616.1:c.1546dup NP_001341545.1:p.Ter516LeuextTer?
NM_001354617.1:c.1546dup NP_001341546.1:p.Ter516LeuextTer?
NM_001354618.1:c.1546dup NP_001341547.1:p.Ter516LeuextTer?
NM_001354619.1:c.1546dup NP_001341548.1:p.Ter516LeuextTer?
NM_001354620.1:c.1975dup NP_001341549.1:p.Ter659LeuextTer?
NM_001354621.1:c.1246dup NP_001341550.1:p.Ter416LeuextTer?
NM_001354622.1:c.1246dup NP_001341551.1:p.Ter416LeuextTer?
NM_001354623.1:c.1246dup NP_001341552.1:p.Ter416LeuextTer?
NM_001354624.1:c.1195dup NP_001341553.1:p.Ter399LeuextTer?
NM_001354625.1:c.1195dup NP_001341554.1:p.Ter399LeuextTer?
NM_001354626.1:c.1195dup NP_001341555.1:p.Ter399LeuextTer?
NM_001354627.1:c.1195dup NP_001341556.1:p.Ter399LeuextTer?
NM_001354628.1:c.2176dup NP_001341557.1:p.Ter726LeuextTer?
NM_001354629.1:c.2170dup NP_001341558.1:p.Ter724LeuextTer?
NM_001354630.1:c.2104dup NP_001341559.1:p.Ter702LeuextTer?
XM_005265161.2:c.2062dup XP_005265218.1:p.Ter688LeuextTer?
XM_017006450.2:c.1246dup XP_016861939.1:p.Ter416LeuextTer?
NM_000249.4:c.2269dup MANE Select NP_000240.1:p.Ter757LeuextTer?
NM_001167617.3:c.1975dup NP_001161089.1:p.Ter659LeuextTer?
NM_001167618.3:c.1546dup NP_001161090.1:p.Ter516LeuextTer?
NM_001167619.3:c.1546dup NP_001161091.1:p.Ter516LeuextTer?
NM_001258271.2:c.2062dup NP_001245200.1:p.Ter688LeuextTer?
NM_001258273.2:c.1546dup NP_001245202.1:p.Ter516LeuextTer?
NM_001258274.3:c.1546dup NP_001245203.1:p.Ter516LeuextTer?
NM_001354615.2:c.1546dup NP_001341544.1:p.Ter516LeuextTer?
NM_001354616.2:c.1546dup NP_001341545.1:p.Ter516LeuextTer?
NM_001354617.2:c.1546dup NP_001341546.1:p.Ter516LeuextTer?
NM_001354618.2:c.1546dup NP_001341547.1:p.Ter516LeuextTer?
NM_001354619.2:c.1546dup NP_001341548.1:p.Ter516LeuextTer?
NM_001354620.2:c.1975dup NP_001341549.1:p.Ter659LeuextTer?
NM_001354621.2:c.1246dup NP_001341550.1:p.Ter416LeuextTer?
NM_001354622.2:c.1246dup NP_001341551.1:p.Ter416LeuextTer?
NM_001354623.2:c.1246dup NP_001341552.1:p.Ter416LeuextTer?
NM_001354624.2:c.1195dup NP_001341553.1:p.Ter399LeuextTer?
NM_001354625.2:c.1195dup NP_001341554.1:p.Ter399LeuextTer?
NM_001354626.2:c.1195dup NP_001341555.1:p.Ter399LeuextTer?
NM_001354627.2:c.1195dup NP_001341556.1:p.Ter399LeuextTer?
NM_001354628.2:c.2176dup NP_001341557.1:p.Ter726LeuextTer?
NM_001354629.2:c.2170dup NP_001341558.1:p.Ter724LeuextTer?
NM_001354630.2:c.2104dup NP_001341559.1:p.Ter702LeuextTer?