Canonical Allele Identifier: CA1357890710

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37048524_37048538delinsACCTGATTGGATTAC , CM000665.2:g.37048524_37048538delinsACCTGATTGGATTAC	GRCh38
NC_000003.11:g.37090015_37090029delinsACCTGATTGGATTAC , CM000665.1:g.37090015_37090029delinsACCTGATTGGATTAC	GRCh37
NC_000003.10:g.37065019_37065033delinsACCTGATTGGATTAC	NCBI36
NG_007109.2:g.60175_60189delinsACCTGATTGGATTAC , LRG_216:g.60175_60189delinsACCTGATTGGATTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1668-1962_1668-1948delinsACCTGATTGGATTAC	ENSP00000416476.2:n.1668-1962_1668-1948delinsACCTGATTGGATTAC
ENST00000429117.6:c.1610_1624delinsACCTGATTGGATTAC	ENSP00000407019.2:p.Asn537=
ENST00000450420.6:c.1559-1962_1559-1948delinsACCTGATTGGATTAC	ENSP00000393006.2:n.1559-1962_1559-1948delinsACCTGATTGGATTAC
ENST00000456676.7:c.1896+841_1896+855delinsACCTGATTGGATTAC	ENSP00000416687.3:n.1896+841_1896+855delinsACCTGATTGGATTAC
ENST00000492474.6:c.1181_1195delinsACCTGATTGGATTAC	ENSP00000518393.1:p.Asn394=
ENST00000616768.6:c.1897-380_1897-366delinsACCTGATTGGATTAC	ENSP00000480669.3:n.1897-380_1897-366delinsACCTGATTGGATTAC
ENST00000673673.2:c.1739_1753delinsACCTGATTGGATTAC	ENSP00000500979.2:p.Asn580=
ENST00000231790.8:c.1904_1918delinsACCTGATTGGATTAC MANE Select	ENSP00000231790.3:p.Asn635=
ENST00000413212.2:c.*822_*836delinsACCTGATTGGATTAC	ENSP00000400844.2:n.*822_*836delinsACCTGATTGGATTAC
ENST00000432299.6:c.*1736_*1750delinsACCTGATTGGATTAC	ENSP00000416783.1:n.*1736_*1750delinsACCTGATTGGATTAC
ENST00000447829.6:c.*1015_*1029delinsACCTGATTGGATTAC	ENSP00000399329.2:n.*1015_*1029delinsACCTGATTGGATTAC
ENST00000539477.6:c.1181_1195delinsACCTGATTGGATTAC	ENSP00000443665.1:p.Asn394=
ENST00000616768.5:c.934-380_934-366delinsACCTGATTGGATTAC	ENSP00000480669.2:n.934-380_934-366delinsACCTGATTGGATTAC
ENST00000673673.1:c.1692_1706delinsACCTGATTGGATTAC
ENST00000673741.1:n.938_952delinsACCTGATTGGATTAC
ENST00000673889.1:n.1286_1300delinsACCTGATTGGATTAC
ENST00000673897.1:c.*1696_*1710delinsACCTGATTGGATTAC	ENSP00000501109.1:n.*1696_*1710delinsACCTGATTGGATTAC
ENST00000673899.1:c.1172_1186delinsACCTGATTGGATTAC	ENSP00000501030.1:p.Asn391=
ENST00000673947.1:c.*2044_*2058delinsACCTGATTGGATTAC	ENSP00000501304.1:n.*2044_*2058delinsACCTGATTGGATTAC
ENST00000673972.1:c.*1782_*1796delinsACCTGATTGGATTAC	ENSP00000501281.1:n.*1782_*1796delinsACCTGATTGGATTAC
ENST00000674019.1:c.1181_1195delinsACCTGATTGGATTAC	ENSP00000501081.1:p.Asn394=
ENST00000674111.1:c.*133_*147delinsACCTGATTGGATTAC	ENSP00000501162.1:n.*133_*147delinsACCTGATTGGATTAC
ENST00000674125.1:n.615_629delinsACCTGATTGGATTAC
ENST00000231790.6:c.1904_1918delinsACCTGATTGGATTAC	ENSP00000231790.2:p.Asn635=
ENST00000413740.1:c.291-1962_291-1948delinsACCTGATTGGATTAC	ENSP00000416476.1:n.291-1962_291-1948delinsACCTGATTGGATTAC
ENST00000435176.5:c.1610_1624delinsACCTGATTGGATTAC	ENSP00000402564.1:p.Asn537=
ENST00000450420.5:c.182-1962_182-1948delinsACCTGATTGGATTAC	ENSP00000393006.1:n.182-1962_182-1948delinsACCTGATTGGATTAC
ENST00000455445.6:c.1181_1195delinsACCTGATTGGATTAC	ENSP00000398272.2:p.Asn394=
ENST00000456676.6:c.1871+841_1871+855delinsACCTGATTGGATTAC
ENST00000458205.6:c.1181_1195delinsACCTGATTGGATTAC	ENSP00000402667.2:p.Asn394=
ENST00000536378.5:c.1181_1195delinsACCTGATTGGATTAC	ENSP00000444286.2:p.Asn394=
ENST00000539477.5:c.1181_1195delinsACCTGATTGGATTAC	ENSP00000443665.1:p.Asn394=
NM_000249.3:c.1904_1918delinsACCTGATTGGATTAC , LRG_216t1:c.1904_1918delinsACCTGATTGGATTAC	NP_000240.1:p.Asn635=
NM_001167617.1:c.1610_1624delinsACCTGATTGGATTAC	NP_001161089.1:p.Asn537=
NM_001167618.1:c.1181_1195delinsACCTGATTGGATTAC	NP_001161090.1:p.Asn394=
NM_001167619.1:c.1181_1195delinsACCTGATTGGATTAC	NP_001161091.1:p.Asn394=
NM_001258271.1:c.1896+841_1896+855delinsACCTGATTGGATTAC	NP_001245200.1:n.1896+841_1896+855delinsACCTGATTGGATTAC
NM_001258273.1:c.1181_1195delinsACCTGATTGGATTAC	NP_001245202.1:p.Asn394=
NM_001258274.1:c.1181_1195delinsACCTGATTGGATTAC	NP_001245203.1:p.Asn394=
XM_005265161.1:c.1697_1711delinsACCTGATTGGATTAC	XP_005265218.1:p.Asn566=
XM_005265163.1:c.1181_1195delinsACCTGATTGGATTAC	XP_005265220.1:p.Asn394=
XM_005265164.1:c.1181_1195delinsACCTGATTGGATTAC	XP_005265221.1:p.Asn394=
XM_005265166.1:c.881_895delinsACCTGATTGGATTAC	XP_005265223.1:p.Asn294=
XM_011533727.1:c.830_844delinsACCTGATTGGATTAC	XP_011532029.1:p.Asn277=
NM_001167617.2:c.1610_1624delinsACCTGATTGGATTAC	NP_001161089.1:p.Asn537=
NM_001167618.2:c.1181_1195delinsACCTGATTGGATTAC	NP_001161090.1:p.Asn394=
NM_001167619.2:c.1181_1195delinsACCTGATTGGATTAC	NP_001161091.1:p.Asn394=
NM_001258274.2:c.1181_1195delinsACCTGATTGGATTAC	NP_001245203.1:p.Asn394=
NM_001354615.1:c.1181_1195delinsACCTGATTGGATTAC	NP_001341544.1:p.Asn394=
NM_001354616.1:c.1181_1195delinsACCTGATTGGATTAC	NP_001341545.1:p.Asn394=
NM_001354617.1:c.1181_1195delinsACCTGATTGGATTAC	NP_001341546.1:p.Asn394=
NM_001354618.1:c.1181_1195delinsACCTGATTGGATTAC	NP_001341547.1:p.Asn394=
NM_001354619.1:c.1181_1195delinsACCTGATTGGATTAC	NP_001341548.1:p.Asn394=
NM_001354620.1:c.1610_1624delinsACCTGATTGGATTAC	NP_001341549.1:p.Asn537=
NM_001354621.1:c.881_895delinsACCTGATTGGATTAC	NP_001341550.1:p.Asn294=
NM_001354622.1:c.881_895delinsACCTGATTGGATTAC	NP_001341551.1:p.Asn294=
NM_001354623.1:c.881_895delinsACCTGATTGGATTAC	NP_001341552.1:p.Asn294=
NM_001354624.1:c.830_844delinsACCTGATTGGATTAC	NP_001341553.1:p.Asn277=
NM_001354625.1:c.830_844delinsACCTGATTGGATTAC	NP_001341554.1:p.Asn277=
NM_001354626.1:c.830_844delinsACCTGATTGGATTAC	NP_001341555.1:p.Asn277=
NM_001354627.1:c.830_844delinsACCTGATTGGATTAC	NP_001341556.1:p.Asn277=
NM_001354628.1:c.1897-380_1897-366delinsACCTGATTGGATTAC	NP_001341557.1:n.1897-380_1897-366delinsACCTGATTGGATTAC
NM_001354629.1:c.1805_1819delinsACCTGATTGGATTAC	NP_001341558.1:p.Asn602=
NM_001354630.1:c.1739_1753delinsACCTGATTGGATTAC	NP_001341559.1:p.Asn580=
XM_005265161.2:c.1697_1711delinsACCTGATTGGATTAC	XP_005265218.1:p.Asn566=
XM_017006450.2:c.881_895delinsACCTGATTGGATTAC	XP_016861939.1:p.Asn294=
NM_000249.4:c.1904_1918delinsACCTGATTGGATTAC MANE Select	NP_000240.1:p.Asn635=
NM_001167617.3:c.1610_1624delinsACCTGATTGGATTAC	NP_001161089.1:p.Asn537=
NM_001167618.3:c.1181_1195delinsACCTGATTGGATTAC	NP_001161090.1:p.Asn394=
NM_001167619.3:c.1181_1195delinsACCTGATTGGATTAC	NP_001161091.1:p.Asn394=
NM_001258271.2:c.1896+841_1896+855delinsACCTGATTGGATTAC	NP_001245200.1:n.1896+841_1896+855delinsACCTGATTGGATTAC
NM_001258273.2:c.1181_1195delinsACCTGATTGGATTAC	NP_001245202.1:p.Asn394=
NM_001258274.3:c.1181_1195delinsACCTGATTGGATTAC	NP_001245203.1:p.Asn394=
NM_001354615.2:c.1181_1195delinsACCTGATTGGATTAC	NP_001341544.1:p.Asn394=
NM_001354616.2:c.1181_1195delinsACCTGATTGGATTAC	NP_001341545.1:p.Asn394=
NM_001354617.2:c.1181_1195delinsACCTGATTGGATTAC	NP_001341546.1:p.Asn394=
NM_001354618.2:c.1181_1195delinsACCTGATTGGATTAC	NP_001341547.1:p.Asn394=
NM_001354619.2:c.1181_1195delinsACCTGATTGGATTAC	NP_001341548.1:p.Asn394=
NM_001354620.2:c.1610_1624delinsACCTGATTGGATTAC	NP_001341549.1:p.Asn537=
NM_001354621.2:c.881_895delinsACCTGATTGGATTAC	NP_001341550.1:p.Asn294=
NM_001354622.2:c.881_895delinsACCTGATTGGATTAC	NP_001341551.1:p.Asn294=
NM_001354623.2:c.881_895delinsACCTGATTGGATTAC	NP_001341552.1:p.Asn294=
NM_001354624.2:c.830_844delinsACCTGATTGGATTAC	NP_001341553.1:p.Asn277=
NM_001354625.2:c.830_844delinsACCTGATTGGATTAC	NP_001341554.1:p.Asn277=
NM_001354626.2:c.830_844delinsACCTGATTGGATTAC	NP_001341555.1:p.Asn277=
NM_001354627.2:c.830_844delinsACCTGATTGGATTAC	NP_001341556.1:p.Asn277=
NM_001354628.2:c.1897-380_1897-366delinsACCTGATTGGATTAC	NP_001341557.1:n.1897-380_1897-366delinsACCTGATTGGATTAC
NM_001354629.2:c.1805_1819delinsACCTGATTGGATTAC	NP_001341558.1:p.Asn602=
NM_001354630.2:c.1739_1753delinsACCTGATTGGATTAC	NP_001341559.1:p.Asn580=