Canonical Allele Identifier: CA263648331

Gene: MLH3

Linked Data

• dbSNP Id: rs748217287
• MyVariant Identifiers: chr14:g.75513956_75513957del (hg19) ; chr14:g.75047253_75047254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75047255_75047256del , CM000676.2:g.75047255_75047256del	GRCh38
NC_000014.8:g.75513958_75513959del , CM000676.1:g.75513958_75513959del	GRCh37
NC_000014.7:g.74583711_74583712del	NCBI36
NG_008649.1:g.9279_9280del , LRG_217:g.9279_9280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355774.7:c.2402_2403del MANE Select	ENSP00000348020.2:p.Ser801Ter
ENST00000355774.6:c.2402_2403del	ENSP00000348020.2:p.Ser801Ter
ENST00000380968.6:c.2402_2403del	ENSP00000370355.3:p.Ser801Ter
ENST00000556257.5:c.2402_2403del	ENSP00000451540.1:p.Ser801Ter
ENST00000556740.5:c.2402_2403del	ENSP00000452316.1:p.Ser801Ter
NM_001040108.1:c.2402_2403del , LRG_217t1:c.2402_2403del	NP_001035197.1:p.Ser801Ter
NM_014381.2:c.2402_2403del	NP_055196.2:p.Ser801Ter
XM_005267531.3:c.2402_2403del	XP_005267588.1:p.Ser801Ter
XM_005267532.3:c.2402_2403del	XP_005267589.1:p.Ser801Ter
XM_005267533.3:c.2402_2403del	XP_005267590.1:p.Ser801Ter
XM_005267534.2:c.2402_2403del	XP_005267591.1:p.Ser801Ter
XM_006720116.2:c.2402_2403del	XP_006720179.1:p.Ser801Ter
XM_011536646.1:c.2402_2403del	XP_011534948.1:p.Ser801Ter
XM_011536647.1:c.2402_2403del	XP_011534949.1:p.Ser801Ter
XM_011536648.1:c.2402_2403del	XP_011534950.1:p.Ser801Ter
XR_245681.2:n.2618_2619del
XM_005267532.5:c.2402_2403del	XP_005267589.1:p.Ser801Ter
XM_005267533.5:c.2402_2403del	XP_005267590.1:p.Ser801Ter
XM_005267534.3:c.2402_2403del	XP_005267591.1:p.Ser801Ter
XM_006720116.4:c.2402_2403del	XP_006720179.1:p.Ser801Ter
XM_011536646.3:c.2402_2403del	XP_011534948.1:p.Ser801Ter
XM_017021219.2:c.2402_2403del	XP_016876708.1:p.Ser801Ter
XM_024449538.1:c.2402_2403del	XP_024305306.1:p.Ser801Ter
XR_001750225.2:n.2565_2566del
XR_001750227.2:n.2565_2566del
XR_001750228.2:n.2565_2566del
XR_001750229.2:n.2565_2566del
XR_001750230.2:n.2565_2566del
XR_002957544.1:n.2565_2566del
XR_245681.4:n.2565_2566del
NM_001040108.2:c.2402_2403del MANE Select	NP_001035197.1:p.Ser801Ter
NM_014381.3:c.2402_2403del	NP_055196.2:p.Ser801Ter