Canonical Allele Identifier: CA16611220

Gene: MLH1

Linked Data

• ClinVar Variation Id: 413378
• ClinVar RCV Id: RCV001175825 ; RCV001474962
• dbSNP Id: rs1060504007
• gnomAD v4: 3-36993671-GGGA-G
• MyVariant Identifiers: chr3:g.37035164_37035166del (hg19) ; chr3:g.36993673_36993675del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993673_36993675del , CM000665.2:g.36993673_36993675del	GRCh38
NC_000003.11:g.37035164_37035166del , CM000665.1:g.37035164_37035166del	GRCh37
NC_000003.10:g.37010168_37010170del	NCBI36
NG_007109.2:g.5324_5326del , LRG_216:g.5324_5326del
NG_008418.1:g.4631_4633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.116+10_116+12del	ENSP00000416476.2:n.116+10_116+12del
ENST00000450420.6:c.116+10_116+12del	ENSP00000393006.2:n.116+10_116+12del
ENST00000456676.7:c.116+10_116+12del	ENSP00000416687.3:n.116+10_116+12del
ENST00000458009.6:c.116+10_116+12del	ENSP00000411066.2:n.116+10_116+12del
ENST00000616768.6:c.116+10_116+12del	ENSP00000480669.3:n.116+10_116+12del
ENST00000673673.2:c.116+10_116+12del	ENSP00000500979.2:n.116+10_116+12del
ENST00000231790.8:c.116+10_116+12del MANE Select	ENSP00000231790.3:n.116+10_116+12del
ENST00000432299.6:c.126_128del	ENSP00000416783.1:p.Ser43del
ENST00000442249.6:n.131+10_131+12del
ENST00000673673.1:c.69+10_69+12del
ENST00000673713.1:n.147+10_147+12del
ENST00000673715.1:c.116+10_116+12del	ENSP00000501301.1:n.116+10_116+12del
ENST00000673897.1:c.116+10_116+12del	ENSP00000501109.1:n.116+10_116+12del
ENST00000673899.1:c.116+10_116+12del	ENSP00000501030.1:n.116+10_116+12del
ENST00000673947.1:c.116+10_116+12del	ENSP00000501304.1:n.116+10_116+12del
ENST00000673972.1:c.116+10_116+12del	ENSP00000501281.1:n.116+10_116+12del
ENST00000674111.1:c.116+10_116+12del	ENSP00000501162.1:n.116+10_116+12del
ENST00000231790.6:c.116+10_116+12del	ENSP00000231790.2:n.116+10_116+12del
ENST00000432299.5:c.126_128del	ENSP00000416783.1:p.Ser43del
ENST00000442249.5:c.116+10_116+12del	ENSP00000387511.1:n.116+10_116+12del
ENST00000454028.5:c.116+10_116+12del	ENSP00000392649.1:n.116+10_116+12del
ENST00000456676.6:c.91+10_91+12del
ENST00000457004.5:c.116+10_116+12del	ENSP00000407773.1:n.116+10_116+12del
ENST00000536378.5:c.-517+10_-517+12del	ENSP00000444286.2:n.-517+10_-517+12del
NM_000249.3:c.116+10_116+12del , LRG_216t1:c.116+10_116+12del	NP_000240.1:n.116+10_116+12del
NM_001258271.1:c.116+10_116+12del	NP_001245200.1:n.116+10_116+12del
NM_001258273.1:c.-517+10_-517+12del	NP_001245202.1:n.-517+10_-517+12del
XM_005265161.1:c.116+10_116+12del	XP_005265218.1:n.116+10_116+12del
XM_005265164.1:c.-603+10_-603+12del	XP_005265221.1:n.-603+10_-603+12del
NM_001167617.2:c.-391_-389del	NP_001161089.1:n.-391_-389del
NM_001167618.2:c.-820_-818del	NP_001161090.1:n.-820_-818del
NM_001167619.2:c.-733_-731del	NP_001161091.1:n.-733_-731del
NM_001258274.2:c.-970_-968del	NP_001245203.1:n.-970_-968del
NM_001354615.1:c.-511+10_-511+12del	NP_001341544.1:n.-511+10_-511+12del
NM_001354616.1:c.-511+10_-511+12del	NP_001341545.1:n.-511+10_-511+12del
NM_001354617.1:c.-603+10_-603+12del	NP_001341546.1:n.-603+10_-603+12del
NM_001354618.1:c.-825_-823del	NP_001341547.1:n.-825_-823del
NM_001354619.1:c.-949_-947del	NP_001341548.1:n.-949_-947del
NM_001354620.1:c.-169+10_-169+12del	NP_001341549.1:n.-169+10_-169+12del
NM_001354621.1:c.-918_-916del	NP_001341550.1:n.-918_-916del
NM_001354622.1:c.-1031_-1029del	NP_001341551.1:n.-1031_-1029del
NM_001354623.1:c.-940_-938del	NP_001341552.1:n.-940_-938del
NM_001354624.1:c.-711+10_-711+12del	NP_001341553.1:n.-711+10_-711+12del
NM_001354625.1:c.-609+10_-609+12del	NP_001341554.1:n.-609+10_-609+12del
NM_001354626.1:c.-706+10_-706+12del	NP_001341555.1:n.-706+10_-706+12del
NM_001354627.1:c.-928_-926del	NP_001341556.1:n.-928_-926del
NM_001354628.1:c.116+10_116+12del	NP_001341557.1:n.116+10_116+12del
NM_001354629.1:c.116+10_116+12del	NP_001341558.1:n.116+10_116+12del
NM_001354630.1:c.116+10_116+12del	NP_001341559.1:n.116+10_116+12del
XM_005265161.2:c.116+10_116+12del	XP_005265218.1:n.116+10_116+12del
XM_017006450.2:c.-696+10_-696+12del	XP_016861939.1:n.-696+10_-696+12del
NM_000249.4:c.116+10_116+12del MANE Select	NP_000240.1:n.116+10_116+12del
NM_001167617.3:c.-391_-389del	NP_001161089.1:n.-391_-389del
NM_001167618.3:c.-820_-818del	NP_001161090.1:n.-820_-818del
NM_001167619.3:c.-733_-731del	NP_001161091.1:n.-733_-731del
NM_001258271.2:c.116+10_116+12del	NP_001245200.1:n.116+10_116+12del
NM_001258273.2:c.-517+10_-517+12del	NP_001245202.1:n.-517+10_-517+12del
NM_001258274.3:c.-970_-968del	NP_001245203.1:n.-970_-968del
NM_001354615.2:c.-511+10_-511+12del	NP_001341544.1:n.-511+10_-511+12del
NM_001354616.2:c.-511+10_-511+12del	NP_001341545.1:n.-511+10_-511+12del
NM_001354617.2:c.-603+10_-603+12del	NP_001341546.1:n.-603+10_-603+12del
NM_001354618.2:c.-825_-823del	NP_001341547.1:n.-825_-823del
NM_001354619.2:c.-949_-947del	NP_001341548.1:n.-949_-947del
NM_001354620.2:c.-169+10_-169+12del	NP_001341549.1:n.-169+10_-169+12del
NM_001354621.2:c.-918_-916del	NP_001341550.1:n.-918_-916del
NM_001354622.2:c.-1031_-1029del	NP_001341551.1:n.-1031_-1029del
NM_001354623.2:c.-940_-938del	NP_001341552.1:n.-940_-938del
NM_001354624.2:c.-711+10_-711+12del	NP_001341553.1:n.-711+10_-711+12del
NM_001354625.2:c.-609+10_-609+12del	NP_001341554.1:n.-609+10_-609+12del
NM_001354626.2:c.-706+10_-706+12del	NP_001341555.1:n.-706+10_-706+12del
NM_001354627.2:c.-928_-926del	NP_001341556.1:n.-928_-926del
NM_001354628.2:c.116+10_116+12del	NP_001341557.1:n.116+10_116+12del
NM_001354629.2:c.116+10_116+12del	NP_001341558.1:n.116+10_116+12del
NM_001354630.2:c.116+10_116+12del	NP_001341559.1:n.116+10_116+12del