Canonical Allele Identifier: CA2702484046

Gene: MLH1

Linked Data

• dbSNP Id: rs2125992368

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37048853_37048858del , CM000665.2:g.37048853_37048858del	GRCh38
NC_000003.11:g.37090344_37090349del , CM000665.1:g.37090344_37090349del	GRCh37
NC_000003.10:g.37065348_37065353del	NCBI36
NG_007109.2:g.60504_60509del , LRG_216:g.60504_60509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-1633_1668-1628del	ENSP00000416476.2:n.1668-1633_1668-1628del
ENST00000429117.6:c.1696-51_1696-46del	ENSP00000407019.2:n.1696-51_1696-46del
ENST00000450420.6:c.1559-1633_1559-1628del	ENSP00000393006.2:n.1559-1633_1559-1628del
ENST00000456676.7:c.1896+1170_1896+1175del	ENSP00000416687.3:n.1896+1170_1896+1175del
ENST00000492474.6:c.1267-51_1267-46del	ENSP00000518393.1:n.1267-51_1267-46del
ENST00000616768.6:c.1897-51_1897-46del	ENSP00000480669.3:n.1897-51_1897-46del
ENST00000673673.2:c.1825-51_1825-46del	ENSP00000500979.2:n.1825-51_1825-46del
ENST00000231790.8:c.1990-51_1990-46del MANE Select	ENSP00000231790.3:n.1990-51_1990-46del
ENST00000413212.2:c.*908-51_*908-46del	ENSP00000400844.2:n.*908-51_*908-46del
ENST00000432299.6:c.*1822-51_*1822-46del	ENSP00000416783.1:n.*1822-51_*1822-46del
ENST00000447829.6:c.*1101-51_*1101-46del	ENSP00000399329.2:n.*1101-51_*1101-46del
ENST00000539477.6:c.1267-51_1267-46del	ENSP00000443665.1:n.1267-51_1267-46del
ENST00000616768.5:c.934-51_934-46del	ENSP00000480669.2:n.934-51_934-46del
ENST00000673673.1:c.1778-51_1778-46del
ENST00000673741.1:n.1024-51_1024-46del
ENST00000673889.1:n.1372-51_1372-46del
ENST00000673897.1:c.*1782-51_*1782-46del	ENSP00000501109.1:n.*1782-51_*1782-46del
ENST00000673899.1:c.1258-51_1258-46del	ENSP00000501030.1:n.1258-51_1258-46del
ENST00000673947.1:c.*2130-51_*2130-46del	ENSP00000501304.1:n.*2130-51_*2130-46del
ENST00000673972.1:c.*1868-51_*1868-46del	ENSP00000501281.1:n.*1868-51_*1868-46del
ENST00000674019.1:c.1267-51_1267-46del	ENSP00000501081.1:n.1267-51_1267-46del
ENST00000674111.1:c.*219-51_*219-46del	ENSP00000501162.1:n.*219-51_*219-46del
ENST00000674125.1:n.701-51_701-46del
ENST00000231790.6:c.1990-51_1990-46del	ENSP00000231790.2:n.1990-51_1990-46del
ENST00000413740.1:c.291-1633_291-1628del	ENSP00000416476.1:n.291-1633_291-1628del
ENST00000435176.5:c.1696-51_1696-46del	ENSP00000402564.1:n.1696-51_1696-46del
ENST00000450420.5:c.182-1633_182-1628del	ENSP00000393006.1:n.182-1633_182-1628del
ENST00000455445.6:c.1267-51_1267-46del	ENSP00000398272.2:n.1267-51_1267-46del
ENST00000456676.6:c.1871+1170_1871+1175del
ENST00000458205.6:c.1267-51_1267-46del	ENSP00000402667.2:n.1267-51_1267-46del
ENST00000536378.5:c.1267-51_1267-46del	ENSP00000444286.2:n.1267-51_1267-46del
ENST00000539477.5:c.1267-51_1267-46del	ENSP00000443665.1:n.1267-51_1267-46del
NM_000249.3:c.1990-51_1990-46del , LRG_216t1:c.1990-51_1990-46del	NP_000240.1:n.1990-51_1990-46del
NM_001167617.1:c.1696-51_1696-46del	NP_001161089.1:n.1696-51_1696-46del
NM_001167618.1:c.1267-51_1267-46del	NP_001161090.1:n.1267-51_1267-46del
NM_001167619.1:c.1267-51_1267-46del	NP_001161091.1:n.1267-51_1267-46del
NM_001258271.1:c.1896+1170_1896+1175del	NP_001245200.1:n.1896+1170_1896+1175del
NM_001258273.1:c.1267-51_1267-46del	NP_001245202.1:n.1267-51_1267-46del
NM_001258274.1:c.1267-51_1267-46del	NP_001245203.1:n.1267-51_1267-46del
XM_005265161.1:c.1783-51_1783-46del	XP_005265218.1:n.1783-51_1783-46del
XM_005265163.1:c.1267-51_1267-46del	XP_005265220.1:n.1267-51_1267-46del
XM_005265164.1:c.1267-51_1267-46del	XP_005265221.1:n.1267-51_1267-46del
XM_005265166.1:c.967-51_967-46del	XP_005265223.1:n.967-51_967-46del
XM_011533727.1:c.916-51_916-46del	XP_011532029.1:n.916-51_916-46del
NM_001167617.2:c.1696-51_1696-46del	NP_001161089.1:n.1696-51_1696-46del
NM_001167618.2:c.1267-51_1267-46del	NP_001161090.1:n.1267-51_1267-46del
NM_001167619.2:c.1267-51_1267-46del	NP_001161091.1:n.1267-51_1267-46del
NM_001258274.2:c.1267-51_1267-46del	NP_001245203.1:n.1267-51_1267-46del
NM_001354615.1:c.1267-51_1267-46del	NP_001341544.1:n.1267-51_1267-46del
NM_001354616.1:c.1267-51_1267-46del	NP_001341545.1:n.1267-51_1267-46del
NM_001354617.1:c.1267-51_1267-46del	NP_001341546.1:n.1267-51_1267-46del
NM_001354618.1:c.1267-51_1267-46del	NP_001341547.1:n.1267-51_1267-46del
NM_001354619.1:c.1267-51_1267-46del	NP_001341548.1:n.1267-51_1267-46del
NM_001354620.1:c.1696-51_1696-46del	NP_001341549.1:n.1696-51_1696-46del
NM_001354621.1:c.967-51_967-46del	NP_001341550.1:n.967-51_967-46del
NM_001354622.1:c.967-51_967-46del	NP_001341551.1:n.967-51_967-46del
NM_001354623.1:c.967-51_967-46del	NP_001341552.1:n.967-51_967-46del
NM_001354624.1:c.916-51_916-46del	NP_001341553.1:n.916-51_916-46del
NM_001354625.1:c.916-51_916-46del	NP_001341554.1:n.916-51_916-46del
NM_001354626.1:c.916-51_916-46del	NP_001341555.1:n.916-51_916-46del
NM_001354627.1:c.916-51_916-46del	NP_001341556.1:n.916-51_916-46del
NM_001354628.1:c.1897-51_1897-46del	NP_001341557.1:n.1897-51_1897-46del
NM_001354629.1:c.1891-51_1891-46del	NP_001341558.1:n.1891-51_1891-46del
NM_001354630.1:c.1825-51_1825-46del	NP_001341559.1:n.1825-51_1825-46del
XM_005265161.2:c.1783-51_1783-46del	XP_005265218.1:n.1783-51_1783-46del
XM_017006450.2:c.967-51_967-46del	XP_016861939.1:n.967-51_967-46del
NM_000249.4:c.1990-51_1990-46del MANE Select	NP_000240.1:n.1990-51_1990-46del
NM_001167617.3:c.1696-51_1696-46del	NP_001161089.1:n.1696-51_1696-46del
NM_001167618.3:c.1267-51_1267-46del	NP_001161090.1:n.1267-51_1267-46del
NM_001167619.3:c.1267-51_1267-46del	NP_001161091.1:n.1267-51_1267-46del
NM_001258271.2:c.1896+1170_1896+1175del	NP_001245200.1:n.1896+1170_1896+1175del
NM_001258273.2:c.1267-51_1267-46del	NP_001245202.1:n.1267-51_1267-46del
NM_001258274.3:c.1267-51_1267-46del	NP_001245203.1:n.1267-51_1267-46del
NM_001354615.2:c.1267-51_1267-46del	NP_001341544.1:n.1267-51_1267-46del
NM_001354616.2:c.1267-51_1267-46del	NP_001341545.1:n.1267-51_1267-46del
NM_001354617.2:c.1267-51_1267-46del	NP_001341546.1:n.1267-51_1267-46del
NM_001354618.2:c.1267-51_1267-46del	NP_001341547.1:n.1267-51_1267-46del
NM_001354619.2:c.1267-51_1267-46del	NP_001341548.1:n.1267-51_1267-46del
NM_001354620.2:c.1696-51_1696-46del	NP_001341549.1:n.1696-51_1696-46del
NM_001354621.2:c.967-51_967-46del	NP_001341550.1:n.967-51_967-46del
NM_001354622.2:c.967-51_967-46del	NP_001341551.1:n.967-51_967-46del
NM_001354623.2:c.967-51_967-46del	NP_001341552.1:n.967-51_967-46del
NM_001354624.2:c.916-51_916-46del	NP_001341553.1:n.916-51_916-46del
NM_001354625.2:c.916-51_916-46del	NP_001341554.1:n.916-51_916-46del
NM_001354626.2:c.916-51_916-46del	NP_001341555.1:n.916-51_916-46del
NM_001354627.2:c.916-51_916-46del	NP_001341556.1:n.916-51_916-46del
NM_001354628.2:c.1897-51_1897-46del	NP_001341557.1:n.1897-51_1897-46del
NM_001354629.2:c.1891-51_1891-46del	NP_001341558.1:n.1891-51_1891-46del
NM_001354630.2:c.1825-51_1825-46del	NP_001341559.1:n.1825-51_1825-46del