Canonical Allele Identifier: CA1357890155

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37047554_37047555delinsCT , CM000665.2:g.37047554_37047555delinsCT	GRCh38
NC_000003.11:g.37089045_37089046delinsCT , CM000665.1:g.37089045_37089046delinsCT	GRCh37
NC_000003.10:g.37064049_37064050delinsCT	NCBI36
NG_007109.2:g.59205_59206delinsCT , LRG_216:g.59205_59206delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-2932_1668-2931delinsCT	ENSP00000416476.2:n.1668-2932_1668-2931delinsCT
ENST00000429117.6:c.1473_1474delinsCT	ENSP00000407019.2:p.Ala491=
ENST00000450420.6:c.1559-2932_1559-2931delinsCT	ENSP00000393006.2:n.1559-2932_1559-2931delinsCT
ENST00000456676.7:c.1767_1768delinsCT	ENSP00000416687.3:p.Ala589=
ENST00000492474.6:c.1044_1045delinsCT	ENSP00000518393.1:p.Ala348=
ENST00000616768.6:c.1767_1768delinsCT	ENSP00000480669.3:p.Ala589=
ENST00000673673.2:c.1732-963_1732-962delinsCT	ENSP00000500979.2:n.1732-963_1732-962delinsCT
ENST00000231790.8:c.1767_1768delinsCT MANE Select	ENSP00000231790.3:p.Ala589=
ENST00000413212.2:c.*685_*686delinsCT	ENSP00000400844.2:n.*685_*686delinsCT
ENST00000432299.6:c.*1599_*1600delinsCT	ENSP00000416783.1:n.*1599_*1600delinsCT
ENST00000441265.6:c.980_981delinsCT	ENSP00000398392.2:p.Pro327=
ENST00000447829.6:c.*878_*879delinsCT	ENSP00000399329.2:n.*878_*879delinsCT
ENST00000539477.6:c.1044_1045delinsCT	ENSP00000443665.1:p.Ala348=
ENST00000616768.5:c.804_805delinsCT	ENSP00000480669.2:p.Ala268=
ENST00000673673.1:c.1685-963_1685-962delinsCT
ENST00000673715.1:c.1767_1768delinsCT	ENSP00000501301.1:p.Ala589=
ENST00000673741.1:n.801_802delinsCT
ENST00000673889.1:n.1149_1150delinsCT
ENST00000673897.1:c.*1559_*1560delinsCT	ENSP00000501109.1:n.*1559_*1560delinsCT
ENST00000673899.1:c.1035_1036delinsCT	ENSP00000501030.1:p.Ala345=
ENST00000673947.1:c.*1907_*1908delinsCT	ENSP00000501304.1:n.*1907_*1908delinsCT
ENST00000673972.1:c.*1645_*1646delinsCT	ENSP00000501281.1:n.*1645_*1646delinsCT
ENST00000673990.1:n.1658_1659delinsCT
ENST00000674019.1:c.1044_1045delinsCT	ENSP00000501081.1:p.Ala348=
ENST00000674111.1:c.1703_1704delinsCT	ENSP00000501162.1:p.Pro568=
ENST00000674125.1:n.478_479delinsCT
ENST00000231790.6:c.1767_1768delinsCT	ENSP00000231790.2:p.Ala589=
ENST00000413740.1:c.291-2932_291-2931delinsCT	ENSP00000416476.1:n.291-2932_291-2931delinsCT
ENST00000435176.5:c.1473_1474delinsCT	ENSP00000402564.1:p.Ala491=
ENST00000450420.5:c.182-2932_182-2931delinsCT	ENSP00000393006.1:n.182-2932_182-2931delinsCT
ENST00000455445.6:c.1044_1045delinsCT	ENSP00000398272.2:p.Ala348=
ENST00000456676.6:c.1742_1743delinsCT
ENST00000458205.6:c.1044_1045delinsCT	ENSP00000402667.2:p.Ala348=
ENST00000536378.5:c.1044_1045delinsCT	ENSP00000444286.2:p.Ala348=
ENST00000539477.5:c.1044_1045delinsCT	ENSP00000443665.1:p.Ala348=
ENST00000616768.4:c.535_536delinsCT
NM_000249.3:c.1767_1768delinsCT , LRG_216t1:c.1767_1768delinsCT	NP_000240.1:p.Ala589=
NM_001167617.1:c.1473_1474delinsCT	NP_001161089.1:p.Ala491=
NM_001167618.1:c.1044_1045delinsCT	NP_001161090.1:p.Ala348=
NM_001167619.1:c.1044_1045delinsCT	NP_001161091.1:p.Ala348=
NM_001258271.1:c.1767_1768delinsCT	NP_001245200.1:p.Ala589=
NM_001258273.1:c.1044_1045delinsCT	NP_001245202.1:p.Ala348=
NM_001258274.1:c.1044_1045delinsCT	NP_001245203.1:p.Ala348=
XM_005265161.1:c.1560_1561delinsCT	XP_005265218.1:p.Ala520=
XM_005265163.1:c.1044_1045delinsCT	XP_005265220.1:p.Ala348=
XM_005265164.1:c.1044_1045delinsCT	XP_005265221.1:p.Ala348=
XM_005265166.1:c.744_745delinsCT	XP_005265223.1:p.Ala248=
XM_011533727.1:c.693_694delinsCT	XP_011532029.1:p.Ala231=
NM_001167617.2:c.1473_1474delinsCT	NP_001161089.1:p.Ala491=
NM_001167618.2:c.1044_1045delinsCT	NP_001161090.1:p.Ala348=
NM_001167619.2:c.1044_1045delinsCT	NP_001161091.1:p.Ala348=
NM_001258274.2:c.1044_1045delinsCT	NP_001245203.1:p.Ala348=
NM_001354615.1:c.1044_1045delinsCT	NP_001341544.1:p.Ala348=
NM_001354616.1:c.1044_1045delinsCT	NP_001341545.1:p.Ala348=
NM_001354617.1:c.1044_1045delinsCT	NP_001341546.1:p.Ala348=
NM_001354618.1:c.1044_1045delinsCT	NP_001341547.1:p.Ala348=
NM_001354619.1:c.1044_1045delinsCT	NP_001341548.1:p.Ala348=
NM_001354620.1:c.1473_1474delinsCT	NP_001341549.1:p.Ala491=
NM_001354621.1:c.744_745delinsCT	NP_001341550.1:p.Ala248=
NM_001354622.1:c.744_745delinsCT	NP_001341551.1:p.Ala248=
NM_001354623.1:c.744_745delinsCT	NP_001341552.1:p.Ala248=
NM_001354624.1:c.693_694delinsCT	NP_001341553.1:p.Ala231=
NM_001354625.1:c.693_694delinsCT	NP_001341554.1:p.Ala231=
NM_001354626.1:c.693_694delinsCT	NP_001341555.1:p.Ala231=
NM_001354627.1:c.693_694delinsCT	NP_001341556.1:p.Ala231=
NM_001354628.1:c.1767_1768delinsCT	NP_001341557.1:p.Ala589=
NM_001354629.1:c.1668_1669delinsCT	NP_001341558.1:p.Ala556=
NM_001354630.1:c.1732-963_1732-962delinsCT	NP_001341559.1:n.1732-963_1732-962delinsCT
XM_005265161.2:c.1560_1561delinsCT	XP_005265218.1:p.Ala520=
XM_017006450.2:c.744_745delinsCT	XP_016861939.1:p.Ala248=
NM_000249.4:c.1767_1768delinsCT MANE Select	NP_000240.1:p.Ala589=
NM_001167617.3:c.1473_1474delinsCT	NP_001161089.1:p.Ala491=
NM_001167618.3:c.1044_1045delinsCT	NP_001161090.1:p.Ala348=
NM_001167619.3:c.1044_1045delinsCT	NP_001161091.1:p.Ala348=
NM_001258271.2:c.1767_1768delinsCT	NP_001245200.1:p.Ala589=
NM_001258273.2:c.1044_1045delinsCT	NP_001245202.1:p.Ala348=
NM_001258274.3:c.1044_1045delinsCT	NP_001245203.1:p.Ala348=
NM_001354615.2:c.1044_1045delinsCT	NP_001341544.1:p.Ala348=
NM_001354616.2:c.1044_1045delinsCT	NP_001341545.1:p.Ala348=
NM_001354617.2:c.1044_1045delinsCT	NP_001341546.1:p.Ala348=
NM_001354618.2:c.1044_1045delinsCT	NP_001341547.1:p.Ala348=
NM_001354619.2:c.1044_1045delinsCT	NP_001341548.1:p.Ala348=
NM_001354620.2:c.1473_1474delinsCT	NP_001341549.1:p.Ala491=
NM_001354621.2:c.744_745delinsCT	NP_001341550.1:p.Ala248=
NM_001354622.2:c.744_745delinsCT	NP_001341551.1:p.Ala248=
NM_001354623.2:c.744_745delinsCT	NP_001341552.1:p.Ala248=
NM_001354624.2:c.693_694delinsCT	NP_001341553.1:p.Ala231=
NM_001354625.2:c.693_694delinsCT	NP_001341554.1:p.Ala231=
NM_001354626.2:c.693_694delinsCT	NP_001341555.1:p.Ala231=
NM_001354627.2:c.693_694delinsCT	NP_001341556.1:p.Ala231=
NM_001354628.2:c.1767_1768delinsCT	NP_001341557.1:p.Ala589=
NM_001354629.2:c.1668_1669delinsCT	NP_001341558.1:p.Ala556=
NM_001354630.2:c.1732-963_1732-962delinsCT	NP_001341559.1:n.1732-963_1732-962delinsCT