Canonical Allele Identifier: CA8331559

Gene: SLC13A5

Linked Data

• dbSNP Id: rs767523899
• ExAC: 17:6599107 GA / G
• gnomAD v2: 17-6599107-GA-G
• MyVariant Identifiers: chr17:g.6599108del (hg19) ; chr17:g.6695789del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695790del , CM000679.2:g.6695790del	GRCh38
NC_000017.10:g.6599109del , CM000679.1:g.6599109del	GRCh37
NC_000017.9:g.6539833del	NCBI36
NG_034220.1:g.22633del , LRG_1020:g.22633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.992del MANE Select	ENSP00000406220.2:p.Phe331SerfsTer12
ENST00000293800.10:c.941del	ENSP00000293800.6:p.Phe314SerfsTer12
ENST00000381074.8:c.863del	ENSP00000370464.4:p.Phe288SerfsTer12
ENST00000433363.6:c.992del	ENSP00000406220.2:p.Phe331SerfsTer12
ENST00000572727.1:n.101del
ENST00000573648.5:c.992del	ENSP00000459372.1:p.Phe331SerfsTer12
ENST00000574824.5:n.2125del
NM_001143838.2:c.992del	NP_001137310.1:p.Phe331SerfsTer12
NM_001284509.1:c.941del	NP_001271438.1:p.Phe314SerfsTer12
NM_001284510.1:c.863del	NP_001271439.1:p.Phe288SerfsTer12
NM_177550.4:c.992del , LRG_1020t1:c.992del	NP_808218.1:p.Phe331SerfsTer12
XM_006721504.2:c.881del	XP_006721567.1:p.Phe294SerfsTer12
XM_011523795.1:c.992del	XP_011522097.1:p.Phe331SerfsTer12
XM_011523795.3:c.992del	XP_011522097.1:p.Phe331SerfsTer12
NM_001143838.3:c.992del	NP_001137310.1:p.Phe331SerfsTer12
NM_001284509.2:c.941del	NP_001271438.1:p.Phe314SerfsTer12
NM_001284510.2:c.863del	NP_001271439.1:p.Phe288SerfsTer12
NM_177550.5:c.992del MANE Select	NP_808218.1:p.Phe331SerfsTer12