Canonical Allele Identifier: CA2573154492

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 1676531
• ClinVar RCV Id: RCV002221913
• dbSNP Id: rs2151495220

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704000del , CM000679.2:g.6704000del	GRCh38
NC_000017.10:g.6607319del , CM000679.1:g.6607319del	GRCh37
NC_000017.9:g.6548043del	NCBI36
NG_034220.1:g.14422del , LRG_1020:g.14422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.425del MANE Select	ENSP00000406220.2:p.Thr142ArgfsTer6
ENST00000293800.10:c.374del	ENSP00000293800.6:p.Thr125ArgfsTer6
ENST00000381074.8:c.296del	ENSP00000370464.4:p.Thr99ArgfsTer6
ENST00000433363.6:c.425del	ENSP00000406220.2:p.Thr142ArgfsTer6
ENST00000572094.1:c.*175del	ENSP00000461495.1:n.*175del
ENST00000572352.5:c.314del	ENSP00000461622.1:p.Thr105ArgfsTer6
ENST00000573648.5:c.425del	ENSP00000459372.1:p.Thr142ArgfsTer6
ENST00000574824.5:n.1558del
ENST00000576323.1:n.455del
NM_001143838.2:c.425del	NP_001137310.1:p.Thr142ArgfsTer6
NM_001284509.1:c.374del	NP_001271438.1:p.Thr125ArgfsTer6
NM_001284510.1:c.296del	NP_001271439.1:p.Thr99ArgfsTer6
NM_177550.4:c.425del , LRG_1020t1:c.425del	NP_808218.1:p.Thr142ArgfsTer6
XM_006721504.2:c.314del	XP_006721567.1:p.Thr105ArgfsTer6
XM_011523795.1:c.425del	XP_011522097.1:p.Thr142ArgfsTer6
XM_011523795.3:c.425del	XP_011522097.1:p.Thr142ArgfsTer6
NM_001143838.3:c.425del	NP_001137310.1:p.Thr142ArgfsTer6
NM_001284509.2:c.374del	NP_001271438.1:p.Thr125ArgfsTer6
NM_001284510.2:c.296del	NP_001271439.1:p.Thr99ArgfsTer6
NM_177550.5:c.425del MANE Select	NP_808218.1:p.Thr142ArgfsTer6