Canonical Allele Identifier: CA915942321
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37048923dup , CM000665.2:g.37048923dup GRCh38
NC_000003.11:g.37090414dup , CM000665.1:g.37090414dup GRCh37
NC_000003.10:g.37065418dup NCBI36
NG_007109.2:g.60574dup , LRG_216:g.60574dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-1563dup ENSP00000416476.2:n.1668-1563dup
ENST00000429117.6:c.1715dup ENSP00000407019.2:p.Glu573GlyfsTer4
ENST00000450420.6:c.1559-1563dup ENSP00000393006.2:n.1559-1563dup
ENST00000456676.7:c.1896+1240dup ENSP00000416687.3:n.1896+1240dup
ENST00000492474.6:c.1286dup ENSP00000518393.1:p.Glu430GlyfsTer4
ENST00000616768.6:c.1916dup ENSP00000480669.3:p.Glu640GlyfsTer4
ENST00000673673.2:c.1844dup ENSP00000500979.2:p.Glu616GlyfsTer4
ENST00000231790.8:c.2009dup MANE Select ENSP00000231790.3:p.Glu671GlyfsTer4
ENST00000413212.2:c.*927dup ENSP00000400844.2:n.*927dup
ENST00000432299.6:c.*1841dup ENSP00000416783.1:n.*1841dup
ENST00000447829.6:c.*1120dup ENSP00000399329.2:n.*1120dup
ENST00000539477.6:c.1286dup ENSP00000443665.1:p.Glu430GlyfsTer4
ENST00000616768.5:c.953dup ENSP00000480669.2:p.Glu319GlyfsTer4
ENST00000673673.1:c.1797dup
ENST00000673741.1:n.1043dup
ENST00000673889.1:n.1391dup
ENST00000673897.1:c.*1801dup ENSP00000501109.1:n.*1801dup
ENST00000673899.1:c.1277dup ENSP00000501030.1:p.Glu427GlyfsTer4
ENST00000673947.1:c.*2149dup ENSP00000501304.1:n.*2149dup
ENST00000673972.1:c.*1887dup ENSP00000501281.1:n.*1887dup
ENST00000674019.1:c.1286dup ENSP00000501081.1:p.Glu430GlyfsTer4
ENST00000674111.1:c.*238dup ENSP00000501162.1:n.*238dup
ENST00000674125.1:n.720dup
ENST00000231790.6:c.2009dup ENSP00000231790.2:p.Glu671GlyfsTer4
ENST00000413740.1:c.291-1563dup ENSP00000416476.1:n.291-1563dup
ENST00000435176.5:c.1715dup ENSP00000402564.1:p.Glu573GlyfsTer4
ENST00000450420.5:c.182-1563dup ENSP00000393006.1:n.182-1563dup
ENST00000455445.6:c.1286dup ENSP00000398272.2:p.Glu430GlyfsTer4
ENST00000456676.6:c.1871+1240dup
ENST00000458205.6:c.1286dup ENSP00000402667.2:p.Glu430GlyfsTer4
ENST00000536378.5:c.1286dup ENSP00000444286.2:p.Glu430GlyfsTer4
ENST00000539477.5:c.1286dup ENSP00000443665.1:p.Glu430GlyfsTer4
NM_000249.3:c.2009dup , LRG_216t1:c.2009dup NP_000240.1:p.Glu671GlyfsTer4
NM_001167617.1:c.1715dup NP_001161089.1:p.Glu573GlyfsTer4
NM_001167618.1:c.1286dup NP_001161090.1:p.Glu430GlyfsTer4
NM_001167619.1:c.1286dup NP_001161091.1:p.Glu430GlyfsTer4
NM_001258271.1:c.1896+1240dup NP_001245200.1:n.1896+1240dup
NM_001258273.1:c.1286dup NP_001245202.1:p.Glu430GlyfsTer4
NM_001258274.1:c.1286dup NP_001245203.1:p.Glu430GlyfsTer4
XM_005265161.1:c.1802dup XP_005265218.1:p.Glu602GlyfsTer4
XM_005265163.1:c.1286dup XP_005265220.1:p.Glu430GlyfsTer4
XM_005265164.1:c.1286dup XP_005265221.1:p.Glu430GlyfsTer4
XM_005265166.1:c.986dup XP_005265223.1:p.Glu330GlyfsTer4
XM_011533727.1:c.935dup XP_011532029.1:p.Glu313GlyfsTer4
NM_001167617.2:c.1715dup NP_001161089.1:p.Glu573GlyfsTer4
NM_001167618.2:c.1286dup NP_001161090.1:p.Glu430GlyfsTer4
NM_001167619.2:c.1286dup NP_001161091.1:p.Glu430GlyfsTer4
NM_001258274.2:c.1286dup NP_001245203.1:p.Glu430GlyfsTer4
NM_001354615.1:c.1286dup NP_001341544.1:p.Glu430GlyfsTer4
NM_001354616.1:c.1286dup NP_001341545.1:p.Glu430GlyfsTer4
NM_001354617.1:c.1286dup NP_001341546.1:p.Glu430GlyfsTer4
NM_001354618.1:c.1286dup NP_001341547.1:p.Glu430GlyfsTer4
NM_001354619.1:c.1286dup NP_001341548.1:p.Glu430GlyfsTer4
NM_001354620.1:c.1715dup NP_001341549.1:p.Glu573GlyfsTer4
NM_001354621.1:c.986dup NP_001341550.1:p.Glu330GlyfsTer4
NM_001354622.1:c.986dup NP_001341551.1:p.Glu330GlyfsTer4
NM_001354623.1:c.986dup NP_001341552.1:p.Glu330GlyfsTer4
NM_001354624.1:c.935dup NP_001341553.1:p.Glu313GlyfsTer4
NM_001354625.1:c.935dup NP_001341554.1:p.Glu313GlyfsTer4
NM_001354626.1:c.935dup NP_001341555.1:p.Glu313GlyfsTer4
NM_001354627.1:c.935dup NP_001341556.1:p.Glu313GlyfsTer4
NM_001354628.1:c.1916dup NP_001341557.1:p.Glu640GlyfsTer4
NM_001354629.1:c.1910dup NP_001341558.1:p.Glu638GlyfsTer4
NM_001354630.1:c.1844dup NP_001341559.1:p.Glu616GlyfsTer4
XM_005265161.2:c.1802dup XP_005265218.1:p.Glu602GlyfsTer4
XM_017006450.2:c.986dup XP_016861939.1:p.Glu330GlyfsTer4
NM_000249.4:c.2009dup MANE Select NP_000240.1:p.Glu671GlyfsTer4
NM_001167617.3:c.1715dup NP_001161089.1:p.Glu573GlyfsTer4
NM_001167618.3:c.1286dup NP_001161090.1:p.Glu430GlyfsTer4
NM_001167619.3:c.1286dup NP_001161091.1:p.Glu430GlyfsTer4
NM_001258271.2:c.1896+1240dup NP_001245200.1:n.1896+1240dup
NM_001258273.2:c.1286dup NP_001245202.1:p.Glu430GlyfsTer4
NM_001258274.3:c.1286dup NP_001245203.1:p.Glu430GlyfsTer4
NM_001354615.2:c.1286dup NP_001341544.1:p.Glu430GlyfsTer4
NM_001354616.2:c.1286dup NP_001341545.1:p.Glu430GlyfsTer4
NM_001354617.2:c.1286dup NP_001341546.1:p.Glu430GlyfsTer4
NM_001354618.2:c.1286dup NP_001341547.1:p.Glu430GlyfsTer4
NM_001354619.2:c.1286dup NP_001341548.1:p.Glu430GlyfsTer4
NM_001354620.2:c.1715dup NP_001341549.1:p.Glu573GlyfsTer4
NM_001354621.2:c.986dup NP_001341550.1:p.Glu330GlyfsTer4
NM_001354622.2:c.986dup NP_001341551.1:p.Glu330GlyfsTer4
NM_001354623.2:c.986dup NP_001341552.1:p.Glu330GlyfsTer4
NM_001354624.2:c.935dup NP_001341553.1:p.Glu313GlyfsTer4
NM_001354625.2:c.935dup NP_001341554.1:p.Glu313GlyfsTer4
NM_001354626.2:c.935dup NP_001341555.1:p.Glu313GlyfsTer4
NM_001354627.2:c.935dup NP_001341556.1:p.Glu313GlyfsTer4
NM_001354628.2:c.1916dup NP_001341557.1:p.Glu640GlyfsTer4
NM_001354629.2:c.1910dup NP_001341558.1:p.Glu638GlyfsTer4
NM_001354630.2:c.1844dup NP_001341559.1:p.Glu616GlyfsTer4