Canonical Allele Identifier: CA004367

Gene: MLH1

Linked Data

• MyVariant Identifiers: chr3:g.37035039_37035154del (hg19) ; chr3:g.36993548_36993663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993548_36993663del , CM000665.2:g.36993548_36993663del	GRCh38
NC_000003.11:g.37035039_37035154del , CM000665.1:g.37035039_37035154del	GRCh37
NC_000003.10:g.37010043_37010158del	NCBI36
NG_007109.2:g.5199_5314del , LRG_216:g.5199_5314del
NG_008418.1:g.4642_4757del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1_116del	ENSP00000416476.2:p.Met1PhefsTer13
ENST00000450420.6:c.1_116del	ENSP00000393006.2:p.Met1PhefsTer13
ENST00000456676.7:c.1_116del	ENSP00000416687.3:p.Met1PhefsTer13
ENST00000458009.6:c.1_116del	ENSP00000411066.2:p.Met1PhefsTer13
ENST00000616768.6:c.1_116del	ENSP00000480669.3:p.Met1PhefsTer13
ENST00000673673.2:c.1_116del	ENSP00000500979.2:p.Met1PhefsTer13
ENST00000231790.8:c.1_116del MANE Select	ENSP00000231790.3:p.Met1PhefsTer13
ENST00000432299.6:c.1_116del	ENSP00000416783.1:p.Met1ValfsTer15
ENST00000442249.6:n.16_131del
ENST00000673713.1:n.32_147del
ENST00000673715.1:c.1_116del	ENSP00000501301.1:p.Met1PhefsTer13
ENST00000673897.1:c.1_116del	ENSP00000501109.1:p.Met1LysfsTer?
ENST00000673899.1:c.1_116del	ENSP00000501030.1:p.Met1PhefsTer13
ENST00000673947.1:c.1_116del	ENSP00000501304.1:p.Ser2LysfsTer?
ENST00000673972.1:c.1_116del	ENSP00000501281.1:p.Ser2GlnfsTer8
ENST00000674111.1:c.1_116del	ENSP00000501162.1:p.Met1PhefsTer13
ENST00000231790.6:c.1_116del	ENSP00000231790.2:p.Met1PhefsTer13
ENST00000432299.5:c.1_116del	ENSP00000416783.1:p.Met1ValfsTer15
ENST00000442249.5:c.1_116del	ENSP00000387511.1:p.Met1LysfsTer?
ENST00000454028.5:c.1_116del	ENSP00000392649.1:p.Ser2GlnfsTer8
ENST00000457004.5:c.1_116del	ENSP00000407773.1:p.Ser2GlnfsTer8
ENST00000536378.5:c.-632_-517del	ENSP00000444286.2:n.-632_-517del
NM_000249.3:c.1_116del , LRG_216t1:c.1_116del	NP_000240.1:p.Met1PhefsTer13
NM_001258271.1:c.1_116del	NP_001245200.1:p.Met1PhefsTer13
NM_001258273.1:c.-632_-517del	NP_001245202.1:n.-632_-517del
XM_005265161.1:c.1_116del	XP_005265218.1:p.Met1PhefsTer13
XM_005265164.1:c.-718_-603del	XP_005265221.1:n.-718_-603del
NM_001167617.2:c.-516_-401del	NP_001161089.1:n.-516_-401del
NM_001167618.2:c.-945_-830del	NP_001161090.1:n.-945_-830del
NM_001167619.2:c.-858_-743del	NP_001161091.1:n.-858_-743del
NM_001258274.2:c.-1095_-980del	NP_001245203.1:n.-1095_-980del
NM_001354615.1:c.-626_-511del	NP_001341544.1:n.-626_-511del
NM_001354616.1:c.-626_-511del	NP_001341545.1:n.-626_-511del
NM_001354617.1:c.-718_-603del	NP_001341546.1:n.-718_-603del
NM_001354618.1:c.-950_-835del	NP_001341547.1:n.-950_-835del
NM_001354619.1:c.-1074_-959del	NP_001341548.1:n.-1074_-959del
NM_001354620.1:c.-284_-169del	NP_001341549.1:n.-284_-169del
NM_001354621.1:c.-1043_-928del	NP_001341550.1:n.-1043_-928del
NM_001354622.1:c.-1156_-1041del	NP_001341551.1:n.-1156_-1041del
NM_001354623.1:c.-1065_-950del	NP_001341552.1:n.-1065_-950del
NM_001354624.1:c.-826_-711del	NP_001341553.1:n.-826_-711del
NM_001354625.1:c.-724_-609del	NP_001341554.1:n.-724_-609del
NM_001354626.1:c.-821_-706del	NP_001341555.1:n.-821_-706del
NM_001354627.1:c.-1053_-938del	NP_001341556.1:n.-1053_-938del
NM_001354628.1:c.1_116del	NP_001341557.1:p.Met1PhefsTer13
NM_001354629.1:c.1_116del	NP_001341558.1:p.Met1PhefsTer13
NM_001354630.1:c.1_116del	NP_001341559.1:p.Met1PhefsTer13
XM_005265161.2:c.1_116del	XP_005265218.1:p.Met1PhefsTer13
XM_017006450.2:c.-811_-696del	XP_016861939.1:n.-811_-696del
NM_000249.4:c.1_116del MANE Select	NP_000240.1:p.Met1PhefsTer13
NM_001167617.3:c.-516_-401del	NP_001161089.1:n.-516_-401del
NM_001167618.3:c.-945_-830del	NP_001161090.1:n.-945_-830del
NM_001167619.3:c.-858_-743del	NP_001161091.1:n.-858_-743del
NM_001258271.2:c.1_116del	NP_001245200.1:p.Met1PhefsTer13
NM_001258273.2:c.-632_-517del	NP_001245202.1:n.-632_-517del
NM_001258274.3:c.-1095_-980del	NP_001245203.1:n.-1095_-980del
NM_001354615.2:c.-626_-511del	NP_001341544.1:n.-626_-511del
NM_001354616.2:c.-626_-511del	NP_001341545.1:n.-626_-511del
NM_001354617.2:c.-718_-603del	NP_001341546.1:n.-718_-603del
NM_001354618.2:c.-950_-835del	NP_001341547.1:n.-950_-835del
NM_001354619.2:c.-1074_-959del	NP_001341548.1:n.-1074_-959del
NM_001354620.2:c.-284_-169del	NP_001341549.1:n.-284_-169del
NM_001354621.2:c.-1043_-928del	NP_001341550.1:n.-1043_-928del
NM_001354622.2:c.-1156_-1041del	NP_001341551.1:n.-1156_-1041del
NM_001354623.2:c.-1065_-950del	NP_001341552.1:n.-1065_-950del
NM_001354624.2:c.-826_-711del	NP_001341553.1:n.-826_-711del
NM_001354625.2:c.-724_-609del	NP_001341554.1:n.-724_-609del
NM_001354626.2:c.-821_-706del	NP_001341555.1:n.-821_-706del
NM_001354627.2:c.-1053_-938del	NP_001341556.1:n.-1053_-938del
NM_001354628.2:c.1_116del	NP_001341557.1:p.Met1PhefsTer13
NM_001354629.2:c.1_116del	NP_001341558.1:p.Met1PhefsTer13
NM_001354630.2:c.1_116del	NP_001341559.1:p.Met1PhefsTer13