Canonical Allele Identifier: CA906727695

Gene: MLH1

Linked Data

• dbSNP Id: rs1293222129
• gnomAD v3: 3-37050316-CTT-C
• gnomAD v4: 3-37050316-CTT-C
• MyVariant Identifiers: chr3:g.37091808_37091809del (hg19) ; chr3:g.37050317_37050318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050317_37050318del , CM000665.2:g.37050317_37050318del	GRCh38
NC_000003.11:g.37091808_37091809del , CM000665.1:g.37091808_37091809del	GRCh37
NC_000003.10:g.37066812_37066813del	NCBI36
NG_007109.2:g.61968_61969del , LRG_216:g.61968_61969del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1668-169_1668-168del	ENSP00000416476.2:n.1668-169_1668-168del
ENST00000429117.6:c.1810-169_1810-168del	ENSP00000407019.2:n.1810-169_1810-168del
ENST00000450420.6:c.1559-169_1559-168del	ENSP00000393006.2:n.1559-169_1559-168del
ENST00000456676.7:c.1897-169_1897-168del	ENSP00000416687.3:n.1897-169_1897-168del
ENST00000492474.6:c.1381-169_1381-168del	ENSP00000518393.1:n.1381-169_1381-168del
ENST00000616768.6:c.2011-169_2011-168del	ENSP00000480669.3:n.2011-169_2011-168del
ENST00000673673.2:c.1939-169_1939-168del	ENSP00000500979.2:n.1939-169_1939-168del
ENST00000231790.8:c.2104-169_2104-168del MANE Select	ENSP00000231790.3:n.2104-169_2104-168del
ENST00000413212.2:c.*1022-169_*1022-168del	ENSP00000400844.2:n.*1022-169_*1022-168del
ENST00000432299.6:c.*1936-169_*1936-168del	ENSP00000416783.1:n.*1936-169_*1936-168del
ENST00000447829.6:c.*1215-169_*1215-168del	ENSP00000399329.2:n.*1215-169_*1215-168del
ENST00000539477.6:c.1381-169_1381-168del	ENSP00000443665.1:n.1381-169_1381-168del
ENST00000616768.5:c.1048-169_1048-168del	ENSP00000480669.2:n.1048-169_1048-168del
ENST00000673673.1:c.1892-169_1892-168del
ENST00000673741.1:n.1138-169_1138-168del
ENST00000673889.1:n.1486-169_1486-168del
ENST00000673897.1:c.*1896-169_*1896-168del	ENSP00000501109.1:n.*1896-169_*1896-168del
ENST00000673899.1:c.1372-169_1372-168del	ENSP00000501030.1:n.1372-169_1372-168del
ENST00000673947.1:c.*2244-169_*2244-168del	ENSP00000501304.1:n.*2244-169_*2244-168del
ENST00000673972.1:c.*1982-169_*1982-168del	ENSP00000501281.1:n.*1982-169_*1982-168del
ENST00000674019.1:c.1381-169_1381-168del	ENSP00000501081.1:n.1381-169_1381-168del
ENST00000674111.1:c.*333-169_*333-168del	ENSP00000501162.1:n.*333-169_*333-168del
ENST00000674125.1:n.815-169_815-168del
ENST00000231790.6:c.2104-169_2104-168del	ENSP00000231790.2:n.2104-169_2104-168del
ENST00000413740.1:c.291-169_291-168del	ENSP00000416476.1:n.291-169_291-168del
ENST00000435176.5:c.1810-169_1810-168del	ENSP00000402564.1:n.1810-169_1810-168del
ENST00000450420.5:c.182-169_182-168del	ENSP00000393006.1:n.182-169_182-168del
ENST00000455445.6:c.1381-169_1381-168del	ENSP00000398272.2:n.1381-169_1381-168del
ENST00000456676.6:c.1872-169_1872-168del
ENST00000458205.6:c.1381-169_1381-168del	ENSP00000402667.2:n.1381-169_1381-168del
ENST00000536378.5:c.1381-169_1381-168del	ENSP00000444286.2:n.1381-169_1381-168del
ENST00000539477.5:c.1381-169_1381-168del	ENSP00000443665.1:n.1381-169_1381-168del
NM_000249.3:c.2104-169_2104-168del , LRG_216t1:c.2104-169_2104-168del	NP_000240.1:n.2104-169_2104-168del
NM_001167617.1:c.1810-169_1810-168del	NP_001161089.1:n.1810-169_1810-168del
NM_001167618.1:c.1381-169_1381-168del	NP_001161090.1:n.1381-169_1381-168del
NM_001167619.1:c.1381-169_1381-168del	NP_001161091.1:n.1381-169_1381-168del
NM_001258271.1:c.1897-169_1897-168del	NP_001245200.1:n.1897-169_1897-168del
NM_001258273.1:c.1381-169_1381-168del	NP_001245202.1:n.1381-169_1381-168del
NM_001258274.1:c.1381-169_1381-168del	NP_001245203.1:n.1381-169_1381-168del
XM_005265161.1:c.1897-169_1897-168del	XP_005265218.1:n.1897-169_1897-168del
XM_005265163.1:c.1381-169_1381-168del	XP_005265220.1:n.1381-169_1381-168del
XM_005265164.1:c.1381-169_1381-168del	XP_005265221.1:n.1381-169_1381-168del
XM_005265166.1:c.1081-169_1081-168del	XP_005265223.1:n.1081-169_1081-168del
XM_011533727.1:c.1030-169_1030-168del	XP_011532029.1:n.1030-169_1030-168del
NM_001167617.2:c.1810-169_1810-168del	NP_001161089.1:n.1810-169_1810-168del
NM_001167618.2:c.1381-169_1381-168del	NP_001161090.1:n.1381-169_1381-168del
NM_001167619.2:c.1381-169_1381-168del	NP_001161091.1:n.1381-169_1381-168del
NM_001258274.2:c.1381-169_1381-168del	NP_001245203.1:n.1381-169_1381-168del
NM_001354615.1:c.1381-169_1381-168del	NP_001341544.1:n.1381-169_1381-168del
NM_001354616.1:c.1381-169_1381-168del	NP_001341545.1:n.1381-169_1381-168del
NM_001354617.1:c.1381-169_1381-168del	NP_001341546.1:n.1381-169_1381-168del
NM_001354618.1:c.1381-169_1381-168del	NP_001341547.1:n.1381-169_1381-168del
NM_001354619.1:c.1381-169_1381-168del	NP_001341548.1:n.1381-169_1381-168del
NM_001354620.1:c.1810-169_1810-168del	NP_001341549.1:n.1810-169_1810-168del
NM_001354621.1:c.1081-169_1081-168del	NP_001341550.1:n.1081-169_1081-168del
NM_001354622.1:c.1081-169_1081-168del	NP_001341551.1:n.1081-169_1081-168del
NM_001354623.1:c.1081-169_1081-168del	NP_001341552.1:n.1081-169_1081-168del
NM_001354624.1:c.1030-169_1030-168del	NP_001341553.1:n.1030-169_1030-168del
NM_001354625.1:c.1030-169_1030-168del	NP_001341554.1:n.1030-169_1030-168del
NM_001354626.1:c.1030-169_1030-168del	NP_001341555.1:n.1030-169_1030-168del
NM_001354627.1:c.1030-169_1030-168del	NP_001341556.1:n.1030-169_1030-168del
NM_001354628.1:c.2011-169_2011-168del	NP_001341557.1:n.2011-169_2011-168del
NM_001354629.1:c.2005-169_2005-168del	NP_001341558.1:n.2005-169_2005-168del
NM_001354630.1:c.1939-169_1939-168del	NP_001341559.1:n.1939-169_1939-168del
XM_005265161.2:c.1897-169_1897-168del	XP_005265218.1:n.1897-169_1897-168del
XM_017006450.2:c.1081-169_1081-168del	XP_016861939.1:n.1081-169_1081-168del
NM_000249.4:c.2104-169_2104-168del MANE Select	NP_000240.1:n.2104-169_2104-168del
NM_001167617.3:c.1810-169_1810-168del	NP_001161089.1:n.1810-169_1810-168del
NM_001167618.3:c.1381-169_1381-168del	NP_001161090.1:n.1381-169_1381-168del
NM_001167619.3:c.1381-169_1381-168del	NP_001161091.1:n.1381-169_1381-168del
NM_001258271.2:c.1897-169_1897-168del	NP_001245200.1:n.1897-169_1897-168del
NM_001258273.2:c.1381-169_1381-168del	NP_001245202.1:n.1381-169_1381-168del
NM_001258274.3:c.1381-169_1381-168del	NP_001245203.1:n.1381-169_1381-168del
NM_001354615.2:c.1381-169_1381-168del	NP_001341544.1:n.1381-169_1381-168del
NM_001354616.2:c.1381-169_1381-168del	NP_001341545.1:n.1381-169_1381-168del
NM_001354617.2:c.1381-169_1381-168del	NP_001341546.1:n.1381-169_1381-168del
NM_001354618.2:c.1381-169_1381-168del	NP_001341547.1:n.1381-169_1381-168del
NM_001354619.2:c.1381-169_1381-168del	NP_001341548.1:n.1381-169_1381-168del
NM_001354620.2:c.1810-169_1810-168del	NP_001341549.1:n.1810-169_1810-168del
NM_001354621.2:c.1081-169_1081-168del	NP_001341550.1:n.1081-169_1081-168del
NM_001354622.2:c.1081-169_1081-168del	NP_001341551.1:n.1081-169_1081-168del
NM_001354623.2:c.1081-169_1081-168del	NP_001341552.1:n.1081-169_1081-168del
NM_001354624.2:c.1030-169_1030-168del	NP_001341553.1:n.1030-169_1030-168del
NM_001354625.2:c.1030-169_1030-168del	NP_001341554.1:n.1030-169_1030-168del
NM_001354626.2:c.1030-169_1030-168del	NP_001341555.1:n.1030-169_1030-168del
NM_001354627.2:c.1030-169_1030-168del	NP_001341556.1:n.1030-169_1030-168del
NM_001354628.2:c.2011-169_2011-168del	NP_001341557.1:n.2011-169_2011-168del
NM_001354629.2:c.2005-169_2005-168del	NP_001341558.1:n.2005-169_2005-168del
NM_001354630.2:c.1939-169_1939-168del	NP_001341559.1:n.1939-169_1939-168del