Canonical Allele Identifier: CA2695197790

Gene: MLH1

Linked Data

• ClinVar Variation Id: 2674435
• ClinVar RCV Id: RCV003452630

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37047617_37047618del , CM000665.2:g.37047617_37047618del	GRCh38
NC_000003.11:g.37089108_37089109del , CM000665.1:g.37089108_37089109del	GRCh37
NC_000003.10:g.37064112_37064113del	NCBI36
NG_007109.2:g.59268_59269del , LRG_216:g.59268_59269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-2869_1668-2868del	ENSP00000416476.2:n.1668-2869_1668-2868del
ENST00000429117.6:c.1536_1537del	ENSP00000407019.2:p.Ile513CysfsTer2
ENST00000450420.6:c.1559-2869_1559-2868del	ENSP00000393006.2:n.1559-2869_1559-2868del
ENST00000456676.7:c.1830_1831del	ENSP00000416687.3:p.Ile611CysfsTer2
ENST00000492474.6:c.1107_1108del	ENSP00000518393.1:p.Ile370CysfsTer2
ENST00000616768.6:c.1830_1831del	ENSP00000480669.3:p.Ile611CysfsTer2
ENST00000673673.2:c.1732-900_1732-899del	ENSP00000500979.2:n.1732-900_1732-899del
ENST00000231790.8:c.1830_1831del MANE Select	ENSP00000231790.3:p.Ile611CysfsTer2
ENST00000413212.2:c.*748_*749del	ENSP00000400844.2:n.*748_*749del
ENST00000432299.6:c.*1662_*1663del	ENSP00000416783.1:n.*1662_*1663del
ENST00000441265.6:c.*59_*60del	ENSP00000398392.2:n.*59_*60del
ENST00000447829.6:c.*941_*942del	ENSP00000399329.2:n.*941_*942del
ENST00000539477.6:c.1107_1108del	ENSP00000443665.1:p.Ile370CysfsTer2
ENST00000616768.5:c.867_868del	ENSP00000480669.2:p.Ile290CysfsTer2
ENST00000673673.1:c.1685-900_1685-899del
ENST00000673715.1:c.1830_1831del	ENSP00000501301.1:p.Ile611CysfsTer2
ENST00000673741.1:n.864_865del
ENST00000673889.1:n.1212_1213del
ENST00000673897.1:c.*1622_*1623del	ENSP00000501109.1:n.*1622_*1623del
ENST00000673899.1:c.1098_1099del	ENSP00000501030.1:p.Ile367CysfsTer2
ENST00000673947.1:c.*1970_*1971del	ENSP00000501304.1:n.*1970_*1971del
ENST00000673972.1:c.*1708_*1709del	ENSP00000501281.1:n.*1708_*1709del
ENST00000674019.1:c.1107_1108del	ENSP00000501081.1:p.Ile370CysfsTer2
ENST00000674111.1:c.*59_*60del	ENSP00000501162.1:n.*59_*60del
ENST00000674125.1:n.541_542del
ENST00000231790.6:c.1830_1831del	ENSP00000231790.2:p.Ile611CysfsTer2
ENST00000413740.1:c.291-2869_291-2868del	ENSP00000416476.1:n.291-2869_291-2868del
ENST00000435176.5:c.1536_1537del	ENSP00000402564.1:p.Ile513CysfsTer2
ENST00000450420.5:c.182-2869_182-2868del	ENSP00000393006.1:n.182-2869_182-2868del
ENST00000455445.6:c.1107_1108del	ENSP00000398272.2:p.Ile370CysfsTer2
ENST00000456676.6:c.1805_1806del
ENST00000458205.6:c.1107_1108del	ENSP00000402667.2:p.Ile370CysfsTer2
ENST00000536378.5:c.1107_1108del	ENSP00000444286.2:p.Ile370CysfsTer2
ENST00000539477.5:c.1107_1108del	ENSP00000443665.1:p.Ile370CysfsTer2
ENST00000616768.4:c.598_599del
NM_000249.3:c.1830_1831del , LRG_216t1:c.1830_1831del	NP_000240.1:p.Ile611CysfsTer2
NM_001167617.1:c.1536_1537del	NP_001161089.1:p.Ile513CysfsTer2
NM_001167618.1:c.1107_1108del	NP_001161090.1:p.Ile370CysfsTer2
NM_001167619.1:c.1107_1108del	NP_001161091.1:p.Ile370CysfsTer2
NM_001258271.1:c.1830_1831del	NP_001245200.1:p.Ile611CysfsTer2
NM_001258273.1:c.1107_1108del	NP_001245202.1:p.Ile370CysfsTer2
NM_001258274.1:c.1107_1108del	NP_001245203.1:p.Ile370CysfsTer2
XM_005265161.1:c.1623_1624del	XP_005265218.1:p.Ile542CysfsTer2
XM_005265163.1:c.1107_1108del	XP_005265220.1:p.Ile370CysfsTer2
XM_005265164.1:c.1107_1108del	XP_005265221.1:p.Ile370CysfsTer2
XM_005265166.1:c.807_808del	XP_005265223.1:p.Ile270CysfsTer2
XM_011533727.1:c.756_757del	XP_011532029.1:p.Ile253CysfsTer2
NM_001167617.2:c.1536_1537del	NP_001161089.1:p.Ile513CysfsTer2
NM_001167618.2:c.1107_1108del	NP_001161090.1:p.Ile370CysfsTer2
NM_001167619.2:c.1107_1108del	NP_001161091.1:p.Ile370CysfsTer2
NM_001258274.2:c.1107_1108del	NP_001245203.1:p.Ile370CysfsTer2
NM_001354615.1:c.1107_1108del	NP_001341544.1:p.Ile370CysfsTer2
NM_001354616.1:c.1107_1108del	NP_001341545.1:p.Ile370CysfsTer2
NM_001354617.1:c.1107_1108del	NP_001341546.1:p.Ile370CysfsTer2
NM_001354618.1:c.1107_1108del	NP_001341547.1:p.Ile370CysfsTer2
NM_001354619.1:c.1107_1108del	NP_001341548.1:p.Ile370CysfsTer2
NM_001354620.1:c.1536_1537del	NP_001341549.1:p.Ile513CysfsTer2
NM_001354621.1:c.807_808del	NP_001341550.1:p.Ile270CysfsTer2
NM_001354622.1:c.807_808del	NP_001341551.1:p.Ile270CysfsTer2
NM_001354623.1:c.807_808del	NP_001341552.1:p.Ile270CysfsTer2
NM_001354624.1:c.756_757del	NP_001341553.1:p.Ile253CysfsTer2
NM_001354625.1:c.756_757del	NP_001341554.1:p.Ile253CysfsTer2
NM_001354626.1:c.756_757del	NP_001341555.1:p.Ile253CysfsTer2
NM_001354627.1:c.756_757del	NP_001341556.1:p.Ile253CysfsTer2
NM_001354628.1:c.1830_1831del	NP_001341557.1:p.Ile611CysfsTer2
NM_001354629.1:c.1731_1732del	NP_001341558.1:p.Ile578CysfsTer2
NM_001354630.1:c.1732-900_1732-899del	NP_001341559.1:n.1732-900_1732-899del
XM_005265161.2:c.1623_1624del	XP_005265218.1:p.Ile542CysfsTer2
XM_017006450.2:c.807_808del	XP_016861939.1:p.Ile270CysfsTer2
NM_000249.4:c.1830_1831del MANE Select	NP_000240.1:p.Ile611CysfsTer2
NM_001167617.3:c.1536_1537del	NP_001161089.1:p.Ile513CysfsTer2
NM_001167618.3:c.1107_1108del	NP_001161090.1:p.Ile370CysfsTer2
NM_001167619.3:c.1107_1108del	NP_001161091.1:p.Ile370CysfsTer2
NM_001258271.2:c.1830_1831del	NP_001245200.1:p.Ile611CysfsTer2
NM_001258273.2:c.1107_1108del	NP_001245202.1:p.Ile370CysfsTer2
NM_001258274.3:c.1107_1108del	NP_001245203.1:p.Ile370CysfsTer2
NM_001354615.2:c.1107_1108del	NP_001341544.1:p.Ile370CysfsTer2
NM_001354616.2:c.1107_1108del	NP_001341545.1:p.Ile370CysfsTer2
NM_001354617.2:c.1107_1108del	NP_001341546.1:p.Ile370CysfsTer2
NM_001354618.2:c.1107_1108del	NP_001341547.1:p.Ile370CysfsTer2
NM_001354619.2:c.1107_1108del	NP_001341548.1:p.Ile370CysfsTer2
NM_001354620.2:c.1536_1537del	NP_001341549.1:p.Ile513CysfsTer2
NM_001354621.2:c.807_808del	NP_001341550.1:p.Ile270CysfsTer2
NM_001354622.2:c.807_808del	NP_001341551.1:p.Ile270CysfsTer2
NM_001354623.2:c.807_808del	NP_001341552.1:p.Ile270CysfsTer2
NM_001354624.2:c.756_757del	NP_001341553.1:p.Ile253CysfsTer2
NM_001354625.2:c.756_757del	NP_001341554.1:p.Ile253CysfsTer2
NM_001354626.2:c.756_757del	NP_001341555.1:p.Ile253CysfsTer2
NM_001354627.2:c.756_757del	NP_001341556.1:p.Ile253CysfsTer2
NM_001354628.2:c.1830_1831del	NP_001341557.1:p.Ile611CysfsTer2
NM_001354629.2:c.1731_1732del	NP_001341558.1:p.Ile578CysfsTer2
NM_001354630.2:c.1732-900_1732-899del	NP_001341559.1:n.1732-900_1732-899del