Canonical Allele Identifier: CA708539863

Gene: MLH3

Linked Data

• dbSNP Id: rs1227285693
• MyVariant Identifiers: chr14:g.75514013_75514014del (hg19) ; chr14:g.75047310_75047311del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75047312_75047313del , CM000676.2:g.75047312_75047313del	GRCh38
NC_000014.8:g.75514015_75514016del , CM000676.1:g.75514015_75514016del	GRCh37
NC_000014.7:g.74583768_74583769del	NCBI36
NG_008649.1:g.9222_9223del , LRG_217:g.9222_9223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355774.7:c.2345_2346del MANE Select	ENSP00000348020.2:p.Leu782GlnfsTer5
ENST00000355774.6:c.2345_2346del	ENSP00000348020.2:p.Leu782GlnfsTer5
ENST00000380968.6:c.2345_2346del	ENSP00000370355.3:p.Leu782GlnfsTer5
ENST00000556257.5:c.2345_2346del	ENSP00000451540.1:p.Leu782GlnfsTer5
ENST00000556740.5:c.2345_2346del	ENSP00000452316.1:p.Leu782GlnfsTer5
NM_001040108.1:c.2345_2346del , LRG_217t1:c.2345_2346del	NP_001035197.1:p.Leu782GlnfsTer5
NM_014381.2:c.2345_2346del	NP_055196.2:p.Leu782GlnfsTer5
XM_005267531.3:c.2345_2346del	XP_005267588.1:p.Leu782GlnfsTer5
XM_005267532.3:c.2345_2346del	XP_005267589.1:p.Leu782GlnfsTer5
XM_005267533.3:c.2345_2346del	XP_005267590.1:p.Leu782GlnfsTer5
XM_005267534.2:c.2345_2346del	XP_005267591.1:p.Leu782GlnfsTer5
XM_006720116.2:c.2345_2346del	XP_006720179.1:p.Leu782GlnfsTer5
XM_011536646.1:c.2345_2346del	XP_011534948.1:p.Leu782GlnfsTer5
XM_011536647.1:c.2345_2346del	XP_011534949.1:p.Leu782GlnfsTer5
XM_011536648.1:c.2345_2346del	XP_011534950.1:p.Leu782GlnfsTer5
XR_245681.2:n.2561_2562del
XM_005267532.5:c.2345_2346del	XP_005267589.1:p.Leu782GlnfsTer5
XM_005267533.5:c.2345_2346del	XP_005267590.1:p.Leu782GlnfsTer5
XM_005267534.3:c.2345_2346del	XP_005267591.1:p.Leu782GlnfsTer5
XM_006720116.4:c.2345_2346del	XP_006720179.1:p.Leu782GlnfsTer5
XM_011536646.3:c.2345_2346del	XP_011534948.1:p.Leu782GlnfsTer5
XM_017021219.2:c.2345_2346del	XP_016876708.1:p.Leu782GlnfsTer5
XM_024449538.1:c.2345_2346del	XP_024305306.1:p.Leu782GlnfsTer5
XR_001750225.2:n.2508_2509del
XR_001750227.2:n.2508_2509del
XR_001750228.2:n.2508_2509del
XR_001750229.2:n.2508_2509del
XR_001750230.2:n.2508_2509del
XR_002957544.1:n.2508_2509del
XR_245681.4:n.2508_2509del
NM_001040108.2:c.2345_2346del MANE Select	NP_001035197.1:p.Leu782GlnfsTer5
NM_014381.3:c.2345_2346del	NP_055196.2:p.Leu782GlnfsTer5