Canonical Allele Identifier: CA1357864792

Gene: MLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993555_36993556delinsTC , CM000665.2:g.36993555_36993556delinsTC	GRCh38
NC_000003.11:g.37035046_37035047delinsTC , CM000665.1:g.37035046_37035047delinsTC	GRCh37
NC_000003.10:g.37010050_37010051delinsTC	NCBI36
NG_007109.2:g.5206_5207delinsTC , LRG_216:g.5206_5207delinsTC
NG_008418.1:g.4749_4750delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.8_9delinsTC	ENSP00000416476.2:p.Phe3=
ENST00000450420.6:c.8_9delinsTC	ENSP00000393006.2:p.Phe3=
ENST00000456676.7:c.8_9delinsTC	ENSP00000416687.3:p.Phe3=
ENST00000458009.6:c.8_9delinsTC	ENSP00000411066.2:p.Phe3=
ENST00000616768.6:c.8_9delinsTC	ENSP00000480669.3:p.Phe3=
ENST00000673673.2:c.8_9delinsTC	ENSP00000500979.2:p.Phe3=
ENST00000231790.8:c.8_9delinsTC MANE Select	ENSP00000231790.3:p.Phe3=
ENST00000432299.6:c.8_9delinsTC	ENSP00000416783.1:p.Phe3=
ENST00000442249.6:n.23_24delinsTC
ENST00000673713.1:n.39_40delinsTC
ENST00000673715.1:c.8_9delinsTC	ENSP00000501301.1:p.Phe3=
ENST00000673897.1:c.8_9delinsTC	ENSP00000501109.1:p.Phe3=
ENST00000673899.1:c.8_9delinsTC	ENSP00000501030.1:p.Phe3=
ENST00000673947.1:c.8_9delinsTC	ENSP00000501304.1:p.Phe3=
ENST00000673972.1:c.8_9delinsTC	ENSP00000501281.1:p.Phe3=
ENST00000674111.1:c.8_9delinsTC	ENSP00000501162.1:p.Phe3=
ENST00000231790.6:c.8_9delinsTC	ENSP00000231790.2:p.Phe3=
ENST00000432299.5:c.8_9delinsTC	ENSP00000416783.1:p.Phe3=
ENST00000442249.5:c.8_9delinsTC	ENSP00000387511.1:p.Phe3=
ENST00000454028.5:c.8_9delinsTC	ENSP00000392649.1:p.Phe3=
ENST00000457004.5:c.8_9delinsTC	ENSP00000407773.1:p.Phe3=
ENST00000536378.5:c.-625_-624delinsTC	ENSP00000444286.2:n.-625_-624delinsTC
NM_000249.3:c.8_9delinsTC , LRG_216t1:c.8_9delinsTC	NP_000240.1:p.Phe3=
NM_001258271.1:c.8_9delinsTC	NP_001245200.1:p.Phe3=
NM_001258273.1:c.-625_-624delinsTC	NP_001245202.1:n.-625_-624delinsTC
XM_005265161.1:c.8_9delinsTC	XP_005265218.1:p.Phe3=
XM_005265164.1:c.-711_-710delinsTC	XP_005265221.1:n.-711_-710delinsTC
NM_001167617.2:c.-509_-508delinsTC	NP_001161089.1:n.-509_-508delinsTC
NM_001167618.2:c.-938_-937delinsTC	NP_001161090.1:n.-938_-937delinsTC
NM_001167619.2:c.-851_-850delinsTC	NP_001161091.1:n.-851_-850delinsTC
NM_001258274.2:c.-1088_-1087delinsTC	NP_001245203.1:n.-1088_-1087delinsTC
NM_001354615.1:c.-619_-618delinsTC	NP_001341544.1:n.-619_-618delinsTC
NM_001354616.1:c.-619_-618delinsTC	NP_001341545.1:n.-619_-618delinsTC
NM_001354617.1:c.-711_-710delinsTC	NP_001341546.1:n.-711_-710delinsTC
NM_001354618.1:c.-943_-942delinsTC	NP_001341547.1:n.-943_-942delinsTC
NM_001354619.1:c.-1067_-1066delinsTC	NP_001341548.1:n.-1067_-1066delinsTC
NM_001354620.1:c.-277_-276delinsTC	NP_001341549.1:n.-277_-276delinsTC
NM_001354621.1:c.-1036_-1035delinsTC	NP_001341550.1:n.-1036_-1035delinsTC
NM_001354622.1:c.-1149_-1148delinsTC	NP_001341551.1:n.-1149_-1148delinsTC
NM_001354623.1:c.-1058_-1057delinsTC	NP_001341552.1:n.-1058_-1057delinsTC
NM_001354624.1:c.-819_-818delinsTC	NP_001341553.1:n.-819_-818delinsTC
NM_001354625.1:c.-717_-716delinsTC	NP_001341554.1:n.-717_-716delinsTC
NM_001354626.1:c.-814_-813delinsTC	NP_001341555.1:n.-814_-813delinsTC
NM_001354627.1:c.-1046_-1045delinsTC	NP_001341556.1:n.-1046_-1045delinsTC
NM_001354628.1:c.8_9delinsTC	NP_001341557.1:p.Phe3=
NM_001354629.1:c.8_9delinsTC	NP_001341558.1:p.Phe3=
NM_001354630.1:c.8_9delinsTC	NP_001341559.1:p.Phe3=
XM_005265161.2:c.8_9delinsTC	XP_005265218.1:p.Phe3=
XM_017006450.2:c.-804_-803delinsTC	XP_016861939.1:n.-804_-803delinsTC
NM_000249.4:c.8_9delinsTC MANE Select	NP_000240.1:p.Phe3=
NM_001167617.3:c.-509_-508delinsTC	NP_001161089.1:n.-509_-508delinsTC
NM_001167618.3:c.-938_-937delinsTC	NP_001161090.1:n.-938_-937delinsTC
NM_001167619.3:c.-851_-850delinsTC	NP_001161091.1:n.-851_-850delinsTC
NM_001258271.2:c.8_9delinsTC	NP_001245200.1:p.Phe3=
NM_001258273.2:c.-625_-624delinsTC	NP_001245202.1:n.-625_-624delinsTC
NM_001258274.3:c.-1088_-1087delinsTC	NP_001245203.1:n.-1088_-1087delinsTC
NM_001354615.2:c.-619_-618delinsTC	NP_001341544.1:n.-619_-618delinsTC
NM_001354616.2:c.-619_-618delinsTC	NP_001341545.1:n.-619_-618delinsTC
NM_001354617.2:c.-711_-710delinsTC	NP_001341546.1:n.-711_-710delinsTC
NM_001354618.2:c.-943_-942delinsTC	NP_001341547.1:n.-943_-942delinsTC
NM_001354619.2:c.-1067_-1066delinsTC	NP_001341548.1:n.-1067_-1066delinsTC
NM_001354620.2:c.-277_-276delinsTC	NP_001341549.1:n.-277_-276delinsTC
NM_001354621.2:c.-1036_-1035delinsTC	NP_001341550.1:n.-1036_-1035delinsTC
NM_001354622.2:c.-1149_-1148delinsTC	NP_001341551.1:n.-1149_-1148delinsTC
NM_001354623.2:c.-1058_-1057delinsTC	NP_001341552.1:n.-1058_-1057delinsTC
NM_001354624.2:c.-819_-818delinsTC	NP_001341553.1:n.-819_-818delinsTC
NM_001354625.2:c.-717_-716delinsTC	NP_001341554.1:n.-717_-716delinsTC
NM_001354626.2:c.-814_-813delinsTC	NP_001341555.1:n.-814_-813delinsTC
NM_001354627.2:c.-1046_-1045delinsTC	NP_001341556.1:n.-1046_-1045delinsTC
NM_001354628.2:c.8_9delinsTC	NP_001341557.1:p.Phe3=
NM_001354629.2:c.8_9delinsTC	NP_001341558.1:p.Phe3=
NM_001354630.2:c.8_9delinsTC	NP_001341559.1:p.Phe3=