Canonical Allele Identifier: CA497596362

Gene: SLC13A5

Linked Data

• COSMIC: COSM1731512
• MyVariant Identifiers: chr17:g.6599257del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695941del , CM000679.2:g.6695941del	GRCh38
NC_000017.10:g.6599260del , CM000679.1:g.6599260del	GRCh37
NC_000017.9:g.6539984del	NCBI36
NG_034220.1:g.22484del , LRG_1020:g.22484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.843del MANE Select	ENSP00000406220.2:p.Phe281LeufsTer9
ENST00000293800.10:c.792del	ENSP00000293800.6:p.Phe264LeufsTer9
ENST00000381074.8:c.714del	ENSP00000370464.4:p.Phe238LeufsTer9
ENST00000433363.6:c.843del	ENSP00000406220.2:p.Phe281LeufsTer9
ENST00000572094.1:c.*593del	ENSP00000461495.1:n.*593del
ENST00000573648.5:c.843del	ENSP00000459372.1:p.Phe281LeufsTer9
ENST00000574824.5:n.1976del
NM_001143838.2:c.843del	NP_001137310.1:p.Phe281LeufsTer9
NM_001284509.1:c.792del	NP_001271438.1:p.Phe264LeufsTer9
NM_001284510.1:c.714del	NP_001271439.1:p.Phe238LeufsTer9
NM_177550.4:c.843del , LRG_1020t1:c.843del	NP_808218.1:p.Phe281LeufsTer9
XM_006721504.2:c.732del	XP_006721567.1:p.Phe244LeufsTer9
XM_011523795.1:c.843del	XP_011522097.1:p.Phe281LeufsTer9
XM_011523795.3:c.843del	XP_011522097.1:p.Phe281LeufsTer9
NM_001143838.3:c.843del	NP_001137310.1:p.Phe281LeufsTer9
NM_001284509.2:c.792del	NP_001271438.1:p.Phe264LeufsTer9
NM_001284510.2:c.714del	NP_001271439.1:p.Phe238LeufsTer9
NM_177550.5:c.843del MANE Select	NP_808218.1:p.Phe281LeufsTer9