Canonical Allele Identifier: CA2586971875

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993645_36993646del , CM000665.2:g.36993645_36993646del	GRCh38
NC_000003.11:g.37035136_37035137del , CM000665.1:g.37035136_37035137del	GRCh37
NC_000003.10:g.37010140_37010141del	NCBI36
NG_007109.2:g.5296_5297del , LRG_216:g.5296_5297del
NG_008418.1:g.4660_4661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.98_99del	ENSP00000416476.2:p.Lys33ArgfsTer4
ENST00000450420.6:c.98_99del	ENSP00000393006.2:p.Lys33ArgfsTer4
ENST00000456676.7:c.98_99del	ENSP00000416687.3:p.Lys33ArgfsTer4
ENST00000458009.6:c.98_99del	ENSP00000411066.2:p.Lys33ArgfsTer4
ENST00000616768.6:c.98_99del	ENSP00000480669.3:p.Lys33ArgfsTer4
ENST00000673673.2:c.98_99del	ENSP00000500979.2:p.Lys33ArgfsTer4
ENST00000231790.8:c.98_99del MANE Select	ENSP00000231790.3:p.Lys33ArgfsTer4
ENST00000432299.6:c.98_99del	ENSP00000416783.1:p.Lys33ArgfsTer4
ENST00000442249.6:n.113_114del
ENST00000673673.1:c.51_52del
ENST00000673713.1:n.129_130del
ENST00000673715.1:c.98_99del	ENSP00000501301.1:p.Lys33ArgfsTer4
ENST00000673897.1:c.98_99del	ENSP00000501109.1:p.Lys33ArgfsTer4
ENST00000673899.1:c.98_99del	ENSP00000501030.1:p.Lys33ArgfsTer4
ENST00000673947.1:c.98_99del	ENSP00000501304.1:p.Lys33ArgfsTer4
ENST00000673972.1:c.98_99del	ENSP00000501281.1:p.Lys33ArgfsTer4
ENST00000674111.1:c.98_99del	ENSP00000501162.1:p.Lys33ArgfsTer4
ENST00000231790.6:c.98_99del	ENSP00000231790.2:p.Lys33ArgfsTer4
ENST00000432299.5:c.98_99del	ENSP00000416783.1:p.Lys33ArgfsTer4
ENST00000442249.5:c.98_99del	ENSP00000387511.1:p.Lys33ArgfsTer4
ENST00000454028.5:c.98_99del	ENSP00000392649.1:p.Lys33ArgfsTer4
ENST00000456676.6:c.73_74del
ENST00000457004.5:c.98_99del	ENSP00000407773.1:p.Lys33ArgfsTer4
ENST00000536378.5:c.-535_-534del	ENSP00000444286.2:n.-535_-534del
NM_000249.3:c.98_99del , LRG_216t1:c.98_99del	NP_000240.1:p.Lys33ArgfsTer4
NM_001258271.1:c.98_99del	NP_001245200.1:p.Lys33ArgfsTer4
NM_001258273.1:c.-535_-534del	NP_001245202.1:n.-535_-534del
XM_005265161.1:c.98_99del	XP_005265218.1:p.Lys33ArgfsTer4
XM_005265164.1:c.-621_-620del	XP_005265221.1:n.-621_-620del
NM_001167617.2:c.-419_-418del	NP_001161089.1:n.-419_-418del
NM_001167618.2:c.-848_-847del	NP_001161090.1:n.-848_-847del
NM_001167619.2:c.-761_-760del	NP_001161091.1:n.-761_-760del
NM_001258274.2:c.-998_-997del	NP_001245203.1:n.-998_-997del
NM_001354615.1:c.-529_-528del	NP_001341544.1:n.-529_-528del
NM_001354616.1:c.-529_-528del	NP_001341545.1:n.-529_-528del
NM_001354617.1:c.-621_-620del	NP_001341546.1:n.-621_-620del
NM_001354618.1:c.-853_-852del	NP_001341547.1:n.-853_-852del
NM_001354619.1:c.-977_-976del	NP_001341548.1:n.-977_-976del
NM_001354620.1:c.-187_-186del	NP_001341549.1:n.-187_-186del
NM_001354621.1:c.-946_-945del	NP_001341550.1:n.-946_-945del
NM_001354622.1:c.-1059_-1058del	NP_001341551.1:n.-1059_-1058del
NM_001354623.1:c.-968_-967del	NP_001341552.1:n.-968_-967del
NM_001354624.1:c.-729_-728del	NP_001341553.1:n.-729_-728del
NM_001354625.1:c.-627_-626del	NP_001341554.1:n.-627_-626del
NM_001354626.1:c.-724_-723del	NP_001341555.1:n.-724_-723del
NM_001354627.1:c.-956_-955del	NP_001341556.1:n.-956_-955del
NM_001354628.1:c.98_99del	NP_001341557.1:p.Lys33ArgfsTer4
NM_001354629.1:c.98_99del	NP_001341558.1:p.Lys33ArgfsTer4
NM_001354630.1:c.98_99del	NP_001341559.1:p.Lys33ArgfsTer4
XM_005265161.2:c.98_99del	XP_005265218.1:p.Lys33ArgfsTer4
XM_017006450.2:c.-714_-713del	XP_016861939.1:n.-714_-713del
NM_000249.4:c.98_99del MANE Select	NP_000240.1:p.Lys33ArgfsTer4
NM_001167617.3:c.-419_-418del	NP_001161089.1:n.-419_-418del
NM_001167618.3:c.-848_-847del	NP_001161090.1:n.-848_-847del
NM_001167619.3:c.-761_-760del	NP_001161091.1:n.-761_-760del
NM_001258271.2:c.98_99del	NP_001245200.1:p.Lys33ArgfsTer4
NM_001258273.2:c.-535_-534del	NP_001245202.1:n.-535_-534del
NM_001258274.3:c.-998_-997del	NP_001245203.1:n.-998_-997del
NM_001354615.2:c.-529_-528del	NP_001341544.1:n.-529_-528del
NM_001354616.2:c.-529_-528del	NP_001341545.1:n.-529_-528del
NM_001354617.2:c.-621_-620del	NP_001341546.1:n.-621_-620del
NM_001354618.2:c.-853_-852del	NP_001341547.1:n.-853_-852del
NM_001354619.2:c.-977_-976del	NP_001341548.1:n.-977_-976del
NM_001354620.2:c.-187_-186del	NP_001341549.1:n.-187_-186del
NM_001354621.2:c.-946_-945del	NP_001341550.1:n.-946_-945del
NM_001354622.2:c.-1059_-1058del	NP_001341551.1:n.-1059_-1058del
NM_001354623.2:c.-968_-967del	NP_001341552.1:n.-968_-967del
NM_001354624.2:c.-729_-728del	NP_001341553.1:n.-729_-728del
NM_001354625.2:c.-627_-626del	NP_001341554.1:n.-627_-626del
NM_001354626.2:c.-724_-723del	NP_001341555.1:n.-724_-723del
NM_001354627.2:c.-956_-955del	NP_001341556.1:n.-956_-955del
NM_001354628.2:c.98_99del	NP_001341557.1:p.Lys33ArgfsTer4
NM_001354629.2:c.98_99del	NP_001341558.1:p.Lys33ArgfsTer4
NM_001354630.2:c.98_99del	NP_001341559.1:p.Lys33ArgfsTer4