Canonical Allele Identifier: CA1046889650

Gene: MLH1

Linked Data

• dbSNP Id: rs2080922407
• gnomAD v3: 3-36993742-CTTTG-C
• gnomAD v4: 3-36993742-CTTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993743_36993746del , CM000665.2:g.36993743_36993746del	GRCh38
NC_000003.11:g.37035234_37035237del , CM000665.1:g.37035234_37035237del	GRCh37
NC_000003.10:g.37010238_37010241del	NCBI36
NG_007109.2:g.5394_5397del , LRG_216:g.5394_5397del
NG_008418.1:g.4559_4562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.116+80_116+83del	ENSP00000416476.2:n.116+80_116+83del
ENST00000450420.6:c.116+80_116+83del	ENSP00000393006.2:n.116+80_116+83del
ENST00000456676.7:c.116+80_116+83del	ENSP00000416687.3:n.116+80_116+83del
ENST00000458009.6:c.116+80_116+83del	ENSP00000411066.2:n.116+80_116+83del
ENST00000616768.6:c.116+80_116+83del	ENSP00000480669.3:n.116+80_116+83del
ENST00000673673.2:c.116+80_116+83del	ENSP00000500979.2:n.116+80_116+83del
ENST00000231790.8:c.116+80_116+83del MANE Select	ENSP00000231790.3:n.116+80_116+83del
ENST00000432299.6:c.*49_*52del	ENSP00000416783.1:n.*49_*52del
ENST00000442249.6:n.131+80_131+83del
ENST00000673673.1:c.69+80_69+83del
ENST00000673713.1:n.147+80_147+83del
ENST00000673715.1:c.116+80_116+83del	ENSP00000501301.1:n.116+80_116+83del
ENST00000673897.1:c.116+80_116+83del	ENSP00000501109.1:n.116+80_116+83del
ENST00000673899.1:c.116+80_116+83del	ENSP00000501030.1:n.116+80_116+83del
ENST00000673947.1:c.116+80_116+83del	ENSP00000501304.1:n.116+80_116+83del
ENST00000673972.1:c.116+80_116+83del	ENSP00000501281.1:n.116+80_116+83del
ENST00000674111.1:c.116+80_116+83del	ENSP00000501162.1:n.116+80_116+83del
ENST00000231790.6:c.116+80_116+83del	ENSP00000231790.2:n.116+80_116+83del
ENST00000432299.5:c.*49_*52del	ENSP00000416783.1:n.*49_*52del
ENST00000442249.5:c.116+80_116+83del	ENSP00000387511.1:n.116+80_116+83del
ENST00000454028.5:c.116+80_116+83del	ENSP00000392649.1:n.116+80_116+83del
ENST00000456676.6:c.91+80_91+83del
ENST00000457004.5:c.116+80_116+83del	ENSP00000407773.1:n.116+80_116+83del
ENST00000536378.5:c.-517+80_-517+83del	ENSP00000444286.2:n.-517+80_-517+83del
NM_000249.3:c.116+80_116+83del , LRG_216t1:c.116+80_116+83del	NP_000240.1:n.116+80_116+83del
NM_001258271.1:c.116+80_116+83del	NP_001245200.1:n.116+80_116+83del
NM_001258273.1:c.-517+80_-517+83del	NP_001245202.1:n.-517+80_-517+83del
XM_005265161.1:c.116+80_116+83del	XP_005265218.1:n.116+80_116+83del
XM_005265164.1:c.-603+80_-603+83del	XP_005265221.1:n.-603+80_-603+83del
NM_001167617.2:c.-321_-318del	NP_001161089.1:n.-321_-318del
NM_001167618.2:c.-750_-747del	NP_001161090.1:n.-750_-747del
NM_001167619.2:c.-663_-660del	NP_001161091.1:n.-663_-660del
NM_001258274.2:c.-900_-897del	NP_001245203.1:n.-900_-897del
NM_001354615.1:c.-511+80_-511+83del	NP_001341544.1:n.-511+80_-511+83del
NM_001354616.1:c.-511+80_-511+83del	NP_001341545.1:n.-511+80_-511+83del
NM_001354617.1:c.-603+80_-603+83del	NP_001341546.1:n.-603+80_-603+83del
NM_001354618.1:c.-755_-752del	NP_001341547.1:n.-755_-752del
NM_001354619.1:c.-879_-876del	NP_001341548.1:n.-879_-876del
NM_001354620.1:c.-169+80_-169+83del	NP_001341549.1:n.-169+80_-169+83del
NM_001354621.1:c.-848_-845del	NP_001341550.1:n.-848_-845del
NM_001354622.1:c.-961_-958del	NP_001341551.1:n.-961_-958del
NM_001354623.1:c.-870_-867del	NP_001341552.1:n.-870_-867del
NM_001354624.1:c.-711+80_-711+83del	NP_001341553.1:n.-711+80_-711+83del
NM_001354625.1:c.-609+80_-609+83del	NP_001341554.1:n.-609+80_-609+83del
NM_001354626.1:c.-706+80_-706+83del	NP_001341555.1:n.-706+80_-706+83del
NM_001354627.1:c.-858_-855del	NP_001341556.1:n.-858_-855del
NM_001354628.1:c.116+80_116+83del	NP_001341557.1:n.116+80_116+83del
NM_001354629.1:c.116+80_116+83del	NP_001341558.1:n.116+80_116+83del
NM_001354630.1:c.116+80_116+83del	NP_001341559.1:n.116+80_116+83del
XM_005265161.2:c.116+80_116+83del	XP_005265218.1:n.116+80_116+83del
XM_017006450.2:c.-696+80_-696+83del	XP_016861939.1:n.-696+80_-696+83del
NM_000249.4:c.116+80_116+83del MANE Select	NP_000240.1:n.116+80_116+83del
NM_001167617.3:c.-321_-318del	NP_001161089.1:n.-321_-318del
NM_001167618.3:c.-750_-747del	NP_001161090.1:n.-750_-747del
NM_001167619.3:c.-663_-660del	NP_001161091.1:n.-663_-660del
NM_001258271.2:c.116+80_116+83del	NP_001245200.1:n.116+80_116+83del
NM_001258273.2:c.-517+80_-517+83del	NP_001245202.1:n.-517+80_-517+83del
NM_001258274.3:c.-900_-897del	NP_001245203.1:n.-900_-897del
NM_001354615.2:c.-511+80_-511+83del	NP_001341544.1:n.-511+80_-511+83del
NM_001354616.2:c.-511+80_-511+83del	NP_001341545.1:n.-511+80_-511+83del
NM_001354617.2:c.-603+80_-603+83del	NP_001341546.1:n.-603+80_-603+83del
NM_001354618.2:c.-755_-752del	NP_001341547.1:n.-755_-752del
NM_001354619.2:c.-879_-876del	NP_001341548.1:n.-879_-876del
NM_001354620.2:c.-169+80_-169+83del	NP_001341549.1:n.-169+80_-169+83del
NM_001354621.2:c.-848_-845del	NP_001341550.1:n.-848_-845del
NM_001354622.2:c.-961_-958del	NP_001341551.1:n.-961_-958del
NM_001354623.2:c.-870_-867del	NP_001341552.1:n.-870_-867del
NM_001354624.2:c.-711+80_-711+83del	NP_001341553.1:n.-711+80_-711+83del
NM_001354625.2:c.-609+80_-609+83del	NP_001341554.1:n.-609+80_-609+83del
NM_001354626.2:c.-706+80_-706+83del	NP_001341555.1:n.-706+80_-706+83del
NM_001354627.2:c.-858_-855del	NP_001341556.1:n.-858_-855del
NM_001354628.2:c.116+80_116+83del	NP_001341557.1:n.116+80_116+83del
NM_001354629.2:c.116+80_116+83del	NP_001341558.1:n.116+80_116+83del
NM_001354630.2:c.116+80_116+83del	NP_001341559.1:n.116+80_116+83del