Canonical Allele Identifier: CA2573052143

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993638_36993639del , CM000665.2:g.36993638_36993639del	GRCh38
NC_000003.11:g.37035129_37035130del , CM000665.1:g.37035129_37035130del	GRCh37
NC_000003.10:g.37010133_37010134del	NCBI36
NG_007109.2:g.5289_5290del , LRG_216:g.5289_5290del
NG_008418.1:g.4666_4667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.91_92del	ENSP00000416476.2:p.Ala31TyrfsTer6
ENST00000450420.6:c.91_92del	ENSP00000393006.2:p.Ala31TyrfsTer6
ENST00000456676.7:c.91_92del	ENSP00000416687.3:p.Ala31TyrfsTer6
ENST00000458009.6:c.91_92del	ENSP00000411066.2:p.Ala31TyrfsTer6
ENST00000616768.6:c.91_92del	ENSP00000480669.3:p.Ala31TyrfsTer6
ENST00000673673.2:c.91_92del	ENSP00000500979.2:p.Ala31TyrfsTer6
ENST00000231790.8:c.91_92del MANE Select	ENSP00000231790.3:p.Ala31TyrfsTer6
ENST00000432299.6:c.91_92del	ENSP00000416783.1:p.Ala31TyrfsTer6
ENST00000442249.6:n.106_107del
ENST00000673673.1:c.44_45del
ENST00000673713.1:n.122_123del
ENST00000673715.1:c.91_92del	ENSP00000501301.1:p.Ala31TyrfsTer6
ENST00000673897.1:c.91_92del	ENSP00000501109.1:p.Ala31TyrfsTer6
ENST00000673899.1:c.91_92del	ENSP00000501030.1:p.Ala31TyrfsTer6
ENST00000673947.1:c.91_92del	ENSP00000501304.1:p.Ala31TyrfsTer6
ENST00000673972.1:c.91_92del	ENSP00000501281.1:p.Ala31TyrfsTer6
ENST00000674111.1:c.91_92del	ENSP00000501162.1:p.Ala31TyrfsTer6
ENST00000231790.6:c.91_92del	ENSP00000231790.2:p.Ala31TyrfsTer6
ENST00000432299.5:c.91_92del	ENSP00000416783.1:p.Ala31TyrfsTer6
ENST00000442249.5:c.91_92del	ENSP00000387511.1:p.Ala31TyrfsTer6
ENST00000454028.5:c.91_92del	ENSP00000392649.1:p.Ala31TyrfsTer6
ENST00000456676.6:c.66_67del
ENST00000457004.5:c.91_92del	ENSP00000407773.1:p.Ala31TyrfsTer6
ENST00000536378.5:c.-542_-541del	ENSP00000444286.2:n.-542_-541del
NM_000249.3:c.91_92del , LRG_216t1:c.91_92del	NP_000240.1:p.Ala31TyrfsTer6
NM_001258271.1:c.91_92del	NP_001245200.1:p.Ala31TyrfsTer6
NM_001258273.1:c.-542_-541del	NP_001245202.1:n.-542_-541del
XM_005265161.1:c.91_92del	XP_005265218.1:p.Ala31TyrfsTer6
XM_005265164.1:c.-628_-627del	XP_005265221.1:n.-628_-627del
NM_001167617.2:c.-426_-425del	NP_001161089.1:n.-426_-425del
NM_001167618.2:c.-855_-854del	NP_001161090.1:n.-855_-854del
NM_001167619.2:c.-768_-767del	NP_001161091.1:n.-768_-767del
NM_001258274.2:c.-1005_-1004del	NP_001245203.1:n.-1005_-1004del
NM_001354615.1:c.-536_-535del	NP_001341544.1:n.-536_-535del
NM_001354616.1:c.-536_-535del	NP_001341545.1:n.-536_-535del
NM_001354617.1:c.-628_-627del	NP_001341546.1:n.-628_-627del
NM_001354618.1:c.-860_-859del	NP_001341547.1:n.-860_-859del
NM_001354619.1:c.-984_-983del	NP_001341548.1:n.-984_-983del
NM_001354620.1:c.-194_-193del	NP_001341549.1:n.-194_-193del
NM_001354621.1:c.-953_-952del	NP_001341550.1:n.-953_-952del
NM_001354622.1:c.-1066_-1065del	NP_001341551.1:n.-1066_-1065del
NM_001354623.1:c.-975_-974del	NP_001341552.1:n.-975_-974del
NM_001354624.1:c.-736_-735del	NP_001341553.1:n.-736_-735del
NM_001354625.1:c.-634_-633del	NP_001341554.1:n.-634_-633del
NM_001354626.1:c.-731_-730del	NP_001341555.1:n.-731_-730del
NM_001354627.1:c.-963_-962del	NP_001341556.1:n.-963_-962del
NM_001354628.1:c.91_92del	NP_001341557.1:p.Ala31TyrfsTer6
NM_001354629.1:c.91_92del	NP_001341558.1:p.Ala31TyrfsTer6
NM_001354630.1:c.91_92del	NP_001341559.1:p.Ala31TyrfsTer6
XM_005265161.2:c.91_92del	XP_005265218.1:p.Ala31TyrfsTer6
XM_017006450.2:c.-721_-720del	XP_016861939.1:n.-721_-720del
NM_000249.4:c.91_92del MANE Select	NP_000240.1:p.Ala31TyrfsTer6
NM_001167617.3:c.-426_-425del	NP_001161089.1:n.-426_-425del
NM_001167618.3:c.-855_-854del	NP_001161090.1:n.-855_-854del
NM_001167619.3:c.-768_-767del	NP_001161091.1:n.-768_-767del
NM_001258271.2:c.91_92del	NP_001245200.1:p.Ala31TyrfsTer6
NM_001258273.2:c.-542_-541del	NP_001245202.1:n.-542_-541del
NM_001258274.3:c.-1005_-1004del	NP_001245203.1:n.-1005_-1004del
NM_001354615.2:c.-536_-535del	NP_001341544.1:n.-536_-535del
NM_001354616.2:c.-536_-535del	NP_001341545.1:n.-536_-535del
NM_001354617.2:c.-628_-627del	NP_001341546.1:n.-628_-627del
NM_001354618.2:c.-860_-859del	NP_001341547.1:n.-860_-859del
NM_001354619.2:c.-984_-983del	NP_001341548.1:n.-984_-983del
NM_001354620.2:c.-194_-193del	NP_001341549.1:n.-194_-193del
NM_001354621.2:c.-953_-952del	NP_001341550.1:n.-953_-952del
NM_001354622.2:c.-1066_-1065del	NP_001341551.1:n.-1066_-1065del
NM_001354623.2:c.-975_-974del	NP_001341552.1:n.-975_-974del
NM_001354624.2:c.-736_-735del	NP_001341553.1:n.-736_-735del
NM_001354625.2:c.-634_-633del	NP_001341554.1:n.-634_-633del
NM_001354626.2:c.-731_-730del	NP_001341555.1:n.-731_-730del
NM_001354627.2:c.-963_-962del	NP_001341556.1:n.-963_-962del
NM_001354628.2:c.91_92del	NP_001341557.1:p.Ala31TyrfsTer6
NM_001354629.2:c.91_92del	NP_001341558.1:p.Ala31TyrfsTer6
NM_001354630.2:c.91_92del	NP_001341559.1:p.Ala31TyrfsTer6