Canonical Allele Identifier: CA2586971941

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37040279_37040281del , CM000665.2:g.37040279_37040281del	GRCh38
NC_000003.11:g.37081770_37081772del , CM000665.1:g.37081770_37081772del	GRCh37
NC_000003.10:g.37056774_37056776del	NCBI36
NG_007109.2:g.51930_51932del , LRG_216:g.51930_51932del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1652_1654del	ENSP00000416476.2:p.Asn551del
ENST00000429117.6:c.1358_1360del	ENSP00000407019.2:p.Asn453del
ENST00000450420.6:c.1559-10207_1559-10205del	ENSP00000393006.2:n.1559-10207_1559-10205del
ENST00000456676.7:c.1652_1654del	ENSP00000416687.3:p.Asn551del
ENST00000492474.6:c.929_931del	ENSP00000518393.1:p.Asn310del
ENST00000616768.6:c.1652_1654del	ENSP00000480669.3:p.Asn551del
ENST00000673673.2:c.1652_1654del	ENSP00000500979.2:p.Asn551del
ENST00000231790.8:c.1652_1654del MANE Select	ENSP00000231790.3:p.Asn551del
ENST00000413212.2:c.*570_*572del	ENSP00000400844.2:n.*570_*572del
ENST00000432299.6:c.*1484_*1486del	ENSP00000416783.1:n.*1484_*1486del
ENST00000441265.6:c.929_931del	ENSP00000398392.2:p.Asn310del
ENST00000447829.6:c.*763_*765del	ENSP00000399329.2:n.*763_*765del
ENST00000539477.6:c.929_931del	ENSP00000443665.1:p.Asn310del
ENST00000616768.5:c.689_691del	ENSP00000480669.2:p.Asn230del
ENST00000673673.1:c.1605_1607del
ENST00000673715.1:c.1652_1654del	ENSP00000501301.1:p.Asn551del
ENST00000673889.1:n.1034_1036del
ENST00000673897.1:c.*1444_*1446del	ENSP00000501109.1:n.*1444_*1446del
ENST00000673899.1:c.920_922del	ENSP00000501030.1:p.Asn307del
ENST00000673947.1:c.*1792_*1794del	ENSP00000501304.1:n.*1792_*1794del
ENST00000673972.1:c.*1530_*1532del	ENSP00000501281.1:n.*1530_*1532del
ENST00000673990.1:n.1543_1545del
ENST00000674019.1:c.929_931del	ENSP00000501081.1:p.Asn310del
ENST00000674111.1:c.1652_1654del	ENSP00000501162.1:p.Asn551del
ENST00000674125.1:n.363_365del
ENST00000231790.6:c.1652_1654del	ENSP00000231790.2:p.Asn551del
ENST00000413740.1:c.275_277del	ENSP00000416476.1:p.Asn92del
ENST00000435176.5:c.1358_1360del	ENSP00000402564.1:p.Asn453del
ENST00000450420.5:c.182-10207_182-10205del	ENSP00000393006.1:n.182-10207_182-10205del
ENST00000455445.6:c.929_931del	ENSP00000398272.2:p.Asn310del
ENST00000456676.6:c.1627_1629del
ENST00000458205.6:c.929_931del	ENSP00000402667.2:p.Asn310del
ENST00000536378.5:c.929_931del	ENSP00000444286.2:p.Asn310del
ENST00000539477.5:c.929_931del	ENSP00000443665.1:p.Asn310del
ENST00000616768.4:c.420_422del
NM_000249.3:c.1652_1654del , LRG_216t1:c.1652_1654del	NP_000240.1:p.Asn551del
NM_001167617.1:c.1358_1360del	NP_001161089.1:p.Asn453del
NM_001167618.1:c.929_931del	NP_001161090.1:p.Asn310del
NM_001167619.1:c.929_931del	NP_001161091.1:p.Asn310del
NM_001258271.1:c.1652_1654del	NP_001245200.1:p.Asn551del
NM_001258273.1:c.929_931del	NP_001245202.1:p.Asn310del
NM_001258274.1:c.929_931del	NP_001245203.1:p.Asn310del
XM_005265161.1:c.1445_1447del	XP_005265218.1:p.Asn482del
XM_005265163.1:c.929_931del	XP_005265220.1:p.Asn310del
XM_005265164.1:c.929_931del	XP_005265221.1:p.Asn310del
XM_005265166.1:c.629_631del	XP_005265223.1:p.Asn210del
XM_011533727.1:c.578_580del	XP_011532029.1:p.Asn193del
NM_001167617.2:c.1358_1360del	NP_001161089.1:p.Asn453del
NM_001167618.2:c.929_931del	NP_001161090.1:p.Asn310del
NM_001167619.2:c.929_931del	NP_001161091.1:p.Asn310del
NM_001258274.2:c.929_931del	NP_001245203.1:p.Asn310del
NM_001354615.1:c.929_931del	NP_001341544.1:p.Asn310del
NM_001354616.1:c.929_931del	NP_001341545.1:p.Asn310del
NM_001354617.1:c.929_931del	NP_001341546.1:p.Asn310del
NM_001354618.1:c.929_931del	NP_001341547.1:p.Asn310del
NM_001354619.1:c.929_931del	NP_001341548.1:p.Asn310del
NM_001354620.1:c.1358_1360del	NP_001341549.1:p.Asn453del
NM_001354621.1:c.629_631del	NP_001341550.1:p.Asn210del
NM_001354622.1:c.629_631del	NP_001341551.1:p.Asn210del
NM_001354623.1:c.629_631del	NP_001341552.1:p.Asn210del
NM_001354624.1:c.578_580del	NP_001341553.1:p.Asn193del
NM_001354625.1:c.578_580del	NP_001341554.1:p.Asn193del
NM_001354626.1:c.578_580del	NP_001341555.1:p.Asn193del
NM_001354627.1:c.578_580del	NP_001341556.1:p.Asn193del
NM_001354628.1:c.1652_1654del	NP_001341557.1:p.Asn551del
NM_001354629.1:c.1553_1555del	NP_001341558.1:p.Asn518del
NM_001354630.1:c.1652_1654del	NP_001341559.1:p.Asn551del
XM_005265161.2:c.1445_1447del	XP_005265218.1:p.Asn482del
XM_017006450.2:c.629_631del	XP_016861939.1:p.Asn210del
NM_000249.4:c.1652_1654del MANE Select	NP_000240.1:p.Asn551del
NM_001167617.3:c.1358_1360del	NP_001161089.1:p.Asn453del
NM_001167618.3:c.929_931del	NP_001161090.1:p.Asn310del
NM_001167619.3:c.929_931del	NP_001161091.1:p.Asn310del
NM_001258271.2:c.1652_1654del	NP_001245200.1:p.Asn551del
NM_001258273.2:c.929_931del	NP_001245202.1:p.Asn310del
NM_001258274.3:c.929_931del	NP_001245203.1:p.Asn310del
NM_001354615.2:c.929_931del	NP_001341544.1:p.Asn310del
NM_001354616.2:c.929_931del	NP_001341545.1:p.Asn310del
NM_001354617.2:c.929_931del	NP_001341546.1:p.Asn310del
NM_001354618.2:c.929_931del	NP_001341547.1:p.Asn310del
NM_001354619.2:c.929_931del	NP_001341548.1:p.Asn310del
NM_001354620.2:c.1358_1360del	NP_001341549.1:p.Asn453del
NM_001354621.2:c.629_631del	NP_001341550.1:p.Asn210del
NM_001354622.2:c.629_631del	NP_001341551.1:p.Asn210del
NM_001354623.2:c.629_631del	NP_001341552.1:p.Asn210del
NM_001354624.2:c.578_580del	NP_001341553.1:p.Asn193del
NM_001354625.2:c.578_580del	NP_001341554.1:p.Asn193del
NM_001354626.2:c.578_580del	NP_001341555.1:p.Asn193del
NM_001354627.2:c.578_580del	NP_001341556.1:p.Asn193del
NM_001354628.2:c.1652_1654del	NP_001341557.1:p.Asn551del
NM_001354629.2:c.1553_1555del	NP_001341558.1:p.Asn518del
NM_001354630.2:c.1652_1654del	NP_001341559.1:p.Asn551del