Canonical Allele Identifier: CA906756252

Gene: MLH1

Linked Data

• dbSNP Id: rs1428544661
• gnomAD v2: 3-37035233-CTT-C
• gnomAD v3: 3-36993742-CTT-C
• gnomAD v4: 3-36993742-CTT-C
• MyVariant Identifiers: chr3:g.37035234_37035235del (hg19) ; chr3:g.36993743_36993744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993744_36993745del , CM000665.2:g.36993744_36993745del	GRCh38
NC_000003.11:g.37035235_37035236del , CM000665.1:g.37035235_37035236del	GRCh37
NC_000003.10:g.37010239_37010240del	NCBI36
NG_007109.2:g.5395_5396del , LRG_216:g.5395_5396del
NG_008418.1:g.4561_4562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.116+81_116+82del	ENSP00000416476.2:n.116+81_116+82del
ENST00000450420.6:c.116+81_116+82del	ENSP00000393006.2:n.116+81_116+82del
ENST00000456676.7:c.116+81_116+82del	ENSP00000416687.3:n.116+81_116+82del
ENST00000458009.6:c.116+81_116+82del	ENSP00000411066.2:n.116+81_116+82del
ENST00000616768.6:c.116+81_116+82del	ENSP00000480669.3:n.116+81_116+82del
ENST00000673673.2:c.116+81_116+82del	ENSP00000500979.2:n.116+81_116+82del
ENST00000231790.8:c.116+81_116+82del MANE Select	ENSP00000231790.3:n.116+81_116+82del
ENST00000432299.6:c.*50_*51del	ENSP00000416783.1:n.*50_*51del
ENST00000442249.6:n.131+81_131+82del
ENST00000673673.1:c.69+81_69+82del
ENST00000673713.1:n.147+81_147+82del
ENST00000673715.1:c.116+81_116+82del	ENSP00000501301.1:n.116+81_116+82del
ENST00000673897.1:c.116+81_116+82del	ENSP00000501109.1:n.116+81_116+82del
ENST00000673899.1:c.116+81_116+82del	ENSP00000501030.1:n.116+81_116+82del
ENST00000673947.1:c.116+81_116+82del	ENSP00000501304.1:n.116+81_116+82del
ENST00000673972.1:c.116+81_116+82del	ENSP00000501281.1:n.116+81_116+82del
ENST00000674111.1:c.116+81_116+82del	ENSP00000501162.1:n.116+81_116+82del
ENST00000231790.6:c.116+81_116+82del	ENSP00000231790.2:n.116+81_116+82del
ENST00000432299.5:c.*50_*51del	ENSP00000416783.1:n.*50_*51del
ENST00000442249.5:c.116+81_116+82del	ENSP00000387511.1:n.116+81_116+82del
ENST00000454028.5:c.116+81_116+82del	ENSP00000392649.1:n.116+81_116+82del
ENST00000456676.6:c.91+81_91+82del
ENST00000457004.5:c.116+81_116+82del	ENSP00000407773.1:n.116+81_116+82del
ENST00000536378.5:c.-517+81_-517+82del	ENSP00000444286.2:n.-517+81_-517+82del
NM_000249.3:c.116+81_116+82del , LRG_216t1:c.116+81_116+82del	NP_000240.1:n.116+81_116+82del
NM_001258271.1:c.116+81_116+82del	NP_001245200.1:n.116+81_116+82del
NM_001258273.1:c.-517+81_-517+82del	NP_001245202.1:n.-517+81_-517+82del
XM_005265161.1:c.116+81_116+82del	XP_005265218.1:n.116+81_116+82del
XM_005265164.1:c.-603+81_-603+82del	XP_005265221.1:n.-603+81_-603+82del
NM_001167617.2:c.-320_-319del	NP_001161089.1:n.-320_-319del
NM_001167618.2:c.-749_-748del	NP_001161090.1:n.-749_-748del
NM_001167619.2:c.-662_-661del	NP_001161091.1:n.-662_-661del
NM_001258274.2:c.-899_-898del	NP_001245203.1:n.-899_-898del
NM_001354615.1:c.-511+81_-511+82del	NP_001341544.1:n.-511+81_-511+82del
NM_001354616.1:c.-511+81_-511+82del	NP_001341545.1:n.-511+81_-511+82del
NM_001354617.1:c.-603+81_-603+82del	NP_001341546.1:n.-603+81_-603+82del
NM_001354618.1:c.-754_-753del	NP_001341547.1:n.-754_-753del
NM_001354619.1:c.-878_-877del	NP_001341548.1:n.-878_-877del
NM_001354620.1:c.-169+81_-169+82del	NP_001341549.1:n.-169+81_-169+82del
NM_001354621.1:c.-847_-846del	NP_001341550.1:n.-847_-846del
NM_001354622.1:c.-960_-959del	NP_001341551.1:n.-960_-959del
NM_001354623.1:c.-869_-868del	NP_001341552.1:n.-869_-868del
NM_001354624.1:c.-711+81_-711+82del	NP_001341553.1:n.-711+81_-711+82del
NM_001354625.1:c.-609+81_-609+82del	NP_001341554.1:n.-609+81_-609+82del
NM_001354626.1:c.-706+81_-706+82del	NP_001341555.1:n.-706+81_-706+82del
NM_001354627.1:c.-857_-856del	NP_001341556.1:n.-857_-856del
NM_001354628.1:c.116+81_116+82del	NP_001341557.1:n.116+81_116+82del
NM_001354629.1:c.116+81_116+82del	NP_001341558.1:n.116+81_116+82del
NM_001354630.1:c.116+81_116+82del	NP_001341559.1:n.116+81_116+82del
XM_005265161.2:c.116+81_116+82del	XP_005265218.1:n.116+81_116+82del
XM_017006450.2:c.-696+81_-696+82del	XP_016861939.1:n.-696+81_-696+82del
NM_000249.4:c.116+81_116+82del MANE Select	NP_000240.1:n.116+81_116+82del
NM_001167617.3:c.-320_-319del	NP_001161089.1:n.-320_-319del
NM_001167618.3:c.-749_-748del	NP_001161090.1:n.-749_-748del
NM_001167619.3:c.-662_-661del	NP_001161091.1:n.-662_-661del
NM_001258271.2:c.116+81_116+82del	NP_001245200.1:n.116+81_116+82del
NM_001258273.2:c.-517+81_-517+82del	NP_001245202.1:n.-517+81_-517+82del
NM_001258274.3:c.-899_-898del	NP_001245203.1:n.-899_-898del
NM_001354615.2:c.-511+81_-511+82del	NP_001341544.1:n.-511+81_-511+82del
NM_001354616.2:c.-511+81_-511+82del	NP_001341545.1:n.-511+81_-511+82del
NM_001354617.2:c.-603+81_-603+82del	NP_001341546.1:n.-603+81_-603+82del
NM_001354618.2:c.-754_-753del	NP_001341547.1:n.-754_-753del
NM_001354619.2:c.-878_-877del	NP_001341548.1:n.-878_-877del
NM_001354620.2:c.-169+81_-169+82del	NP_001341549.1:n.-169+81_-169+82del
NM_001354621.2:c.-847_-846del	NP_001341550.1:n.-847_-846del
NM_001354622.2:c.-960_-959del	NP_001341551.1:n.-960_-959del
NM_001354623.2:c.-869_-868del	NP_001341552.1:n.-869_-868del
NM_001354624.2:c.-711+81_-711+82del	NP_001341553.1:n.-711+81_-711+82del
NM_001354625.2:c.-609+81_-609+82del	NP_001341554.1:n.-609+81_-609+82del
NM_001354626.2:c.-706+81_-706+82del	NP_001341555.1:n.-706+81_-706+82del
NM_001354627.2:c.-857_-856del	NP_001341556.1:n.-857_-856del
NM_001354628.2:c.116+81_116+82del	NP_001341557.1:n.116+81_116+82del
NM_001354629.2:c.116+81_116+82del	NP_001341558.1:n.116+81_116+82del
NM_001354630.2:c.116+81_116+82del	NP_001341559.1:n.116+81_116+82del