Canonical Allele Identifier: CA1357891749

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37050526_37050528delinsCTG , CM000665.2:g.37050526_37050528delinsCTG	GRCh38
NC_000003.11:g.37092017_37092019delinsCTG , CM000665.1:g.37092017_37092019delinsCTG	GRCh37
NC_000003.10:g.37067021_37067023delinsCTG	NCBI36
NG_007109.2:g.62177_62179delinsCTG , LRG_216:g.62177_62179delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1708_1710delinsCTG	ENSP00000416476.2:p.Leu570=
ENST00000429117.6:c.1850_1852delinsCTG	ENSP00000407019.2:p.Thr617=
ENST00000450420.6:c.*36_*38delinsCTG	ENSP00000393006.2:n.*36_*38delinsCTG
ENST00000456676.7:c.1937_1939delinsCTG	ENSP00000416687.3:p.Thr646=
ENST00000492474.6:c.1421_1423delinsCTG	ENSP00000518393.1:p.Thr474=
ENST00000616768.6:c.2051_2053delinsCTG	ENSP00000480669.3:p.Thr684=
ENST00000673673.2:c.1979_1981delinsCTG	ENSP00000500979.2:p.Thr660=
ENST00000231790.8:c.2144_2146delinsCTG MANE Select	ENSP00000231790.3:p.Thr715=
ENST00000413212.2:c.*1062_*1064delinsCTG	ENSP00000400844.2:n.*1062_*1064delinsCTG
ENST00000432299.6:c.*1976_*1978delinsCTG	ENSP00000416783.1:n.*1976_*1978delinsCTG
ENST00000447829.6:c.*1255_*1257delinsCTG	ENSP00000399329.2:n.*1255_*1257delinsCTG
ENST00000539477.6:c.1421_1423delinsCTG	ENSP00000443665.1:p.Thr474=
ENST00000616768.5:c.1088_1090delinsCTG	ENSP00000480669.2:p.Thr363=
ENST00000673673.1:c.1932_1934delinsCTG
ENST00000673741.1:n.1178_1180delinsCTG
ENST00000673889.1:n.1526_1528delinsCTG
ENST00000673897.1:c.*1936_*1938delinsCTG	ENSP00000501109.1:n.*1936_*1938delinsCTG
ENST00000673899.1:c.1412_1414delinsCTG	ENSP00000501030.1:p.Thr471=
ENST00000673947.1:c.*2284_*2286delinsCTG	ENSP00000501304.1:n.*2284_*2286delinsCTG
ENST00000673972.1:c.*2022_*2024delinsCTG	ENSP00000501281.1:n.*2022_*2024delinsCTG
ENST00000674019.1:c.1421_1423delinsCTG	ENSP00000501081.1:p.Thr474=
ENST00000674111.1:c.*373_*375delinsCTG	ENSP00000501162.1:n.*373_*375delinsCTG
ENST00000674125.1:n.855_857delinsCTG
ENST00000231790.6:c.2144_2146delinsCTG	ENSP00000231790.2:p.Thr715=
ENST00000413740.1:c.331_333delinsCTG	ENSP00000416476.1:p.Leu111=
ENST00000435176.5:c.1850_1852delinsCTG	ENSP00000402564.1:p.Thr617=
ENST00000450420.5:c.222_224delinsCTG	ENSP00000393006.1:n.222_224delinsCTG
ENST00000455445.6:c.1421_1423delinsCTG	ENSP00000398272.2:p.Thr474=
ENST00000456676.6:c.1912_1914delinsCTG
ENST00000458205.6:c.1421_1423delinsCTG	ENSP00000402667.2:p.Thr474=
ENST00000536378.5:c.1421_1423delinsCTG	ENSP00000444286.2:p.Thr474=
ENST00000539477.5:c.1421_1423delinsCTG	ENSP00000443665.1:p.Thr474=
NM_000249.3:c.2144_2146delinsCTG , LRG_216t1:c.2144_2146delinsCTG	NP_000240.1:p.Thr715=
NM_001167617.1:c.1850_1852delinsCTG	NP_001161089.1:p.Thr617=
NM_001167618.1:c.1421_1423delinsCTG	NP_001161090.1:p.Thr474=
NM_001167619.1:c.1421_1423delinsCTG	NP_001161091.1:p.Thr474=
NM_001258271.1:c.1937_1939delinsCTG	NP_001245200.1:p.Thr646=
NM_001258273.1:c.1421_1423delinsCTG	NP_001245202.1:p.Thr474=
NM_001258274.1:c.1421_1423delinsCTG	NP_001245203.1:p.Thr474=
XM_005265161.1:c.1937_1939delinsCTG	XP_005265218.1:p.Thr646=
XM_005265163.1:c.1421_1423delinsCTG	XP_005265220.1:p.Thr474=
XM_005265164.1:c.1421_1423delinsCTG	XP_005265221.1:p.Thr474=
XM_005265166.1:c.1121_1123delinsCTG	XP_005265223.1:p.Thr374=
XM_011533727.1:c.1070_1072delinsCTG	XP_011532029.1:p.Thr357=
NM_001167617.2:c.1850_1852delinsCTG	NP_001161089.1:p.Thr617=
NM_001167618.2:c.1421_1423delinsCTG	NP_001161090.1:p.Thr474=
NM_001167619.2:c.1421_1423delinsCTG	NP_001161091.1:p.Thr474=
NM_001258274.2:c.1421_1423delinsCTG	NP_001245203.1:p.Thr474=
NM_001354615.1:c.1421_1423delinsCTG	NP_001341544.1:p.Thr474=
NM_001354616.1:c.1421_1423delinsCTG	NP_001341545.1:p.Thr474=
NM_001354617.1:c.1421_1423delinsCTG	NP_001341546.1:p.Thr474=
NM_001354618.1:c.1421_1423delinsCTG	NP_001341547.1:p.Thr474=
NM_001354619.1:c.1421_1423delinsCTG	NP_001341548.1:p.Thr474=
NM_001354620.1:c.1850_1852delinsCTG	NP_001341549.1:p.Thr617=
NM_001354621.1:c.1121_1123delinsCTG	NP_001341550.1:p.Thr374=
NM_001354622.1:c.1121_1123delinsCTG	NP_001341551.1:p.Thr374=
NM_001354623.1:c.1121_1123delinsCTG	NP_001341552.1:p.Thr374=
NM_001354624.1:c.1070_1072delinsCTG	NP_001341553.1:p.Thr357=
NM_001354625.1:c.1070_1072delinsCTG	NP_001341554.1:p.Thr357=
NM_001354626.1:c.1070_1072delinsCTG	NP_001341555.1:p.Thr357=
NM_001354627.1:c.1070_1072delinsCTG	NP_001341556.1:p.Thr357=
NM_001354628.1:c.2051_2053delinsCTG	NP_001341557.1:p.Thr684=
NM_001354629.1:c.2045_2047delinsCTG	NP_001341558.1:p.Thr682=
NM_001354630.1:c.1979_1981delinsCTG	NP_001341559.1:p.Thr660=
XM_005265161.2:c.1937_1939delinsCTG	XP_005265218.1:p.Thr646=
XM_017006450.2:c.1121_1123delinsCTG	XP_016861939.1:p.Thr374=
NM_000249.4:c.2144_2146delinsCTG MANE Select	NP_000240.1:p.Thr715=
NM_001167617.3:c.1850_1852delinsCTG	NP_001161089.1:p.Thr617=
NM_001167618.3:c.1421_1423delinsCTG	NP_001161090.1:p.Thr474=
NM_001167619.3:c.1421_1423delinsCTG	NP_001161091.1:p.Thr474=
NM_001258271.2:c.1937_1939delinsCTG	NP_001245200.1:p.Thr646=
NM_001258273.2:c.1421_1423delinsCTG	NP_001245202.1:p.Thr474=
NM_001258274.3:c.1421_1423delinsCTG	NP_001245203.1:p.Thr474=
NM_001354615.2:c.1421_1423delinsCTG	NP_001341544.1:p.Thr474=
NM_001354616.2:c.1421_1423delinsCTG	NP_001341545.1:p.Thr474=
NM_001354617.2:c.1421_1423delinsCTG	NP_001341546.1:p.Thr474=
NM_001354618.2:c.1421_1423delinsCTG	NP_001341547.1:p.Thr474=
NM_001354619.2:c.1421_1423delinsCTG	NP_001341548.1:p.Thr474=
NM_001354620.2:c.1850_1852delinsCTG	NP_001341549.1:p.Thr617=
NM_001354621.2:c.1121_1123delinsCTG	NP_001341550.1:p.Thr374=
NM_001354622.2:c.1121_1123delinsCTG	NP_001341551.1:p.Thr374=
NM_001354623.2:c.1121_1123delinsCTG	NP_001341552.1:p.Thr374=
NM_001354624.2:c.1070_1072delinsCTG	NP_001341553.1:p.Thr357=
NM_001354625.2:c.1070_1072delinsCTG	NP_001341554.1:p.Thr357=
NM_001354626.2:c.1070_1072delinsCTG	NP_001341555.1:p.Thr357=
NM_001354627.2:c.1070_1072delinsCTG	NP_001341556.1:p.Thr357=
NM_001354628.2:c.2051_2053delinsCTG	NP_001341557.1:p.Thr684=
NM_001354629.2:c.2045_2047delinsCTG	NP_001341558.1:p.Thr682=
NM_001354630.2:c.1979_1981delinsCTG	NP_001341559.1:p.Thr660=