Canonical Allele Identifier: CA2733154966

Gene: SLC13A5

Linked Data

• dbSNP Id: rs2151487172

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695792_6695794del , CM000679.2:g.6695792_6695794del	GRCh38
NC_000017.10:g.6599111_6599113del , CM000679.1:g.6599111_6599113del	GRCh37
NC_000017.9:g.6539835_6539837del	NCBI36
NG_034220.1:g.22630_22632del , LRG_1020:g.22630_22632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.989_991del MANE Select	ENSP00000406220.2:p.Trp330del
ENST00000293800.10:c.938_940del	ENSP00000293800.6:p.Trp313del
ENST00000381074.8:c.860_862del	ENSP00000370464.4:p.Trp287del
ENST00000433363.6:c.989_991del	ENSP00000406220.2:p.Trp330del
ENST00000572727.1:n.98_100del
ENST00000573648.5:c.989_991del	ENSP00000459372.1:p.Trp330del
ENST00000574824.5:n.2122_2124del
NM_001143838.2:c.989_991del	NP_001137310.1:p.Trp330del
NM_001284509.1:c.938_940del	NP_001271438.1:p.Trp313del
NM_001284510.1:c.860_862del	NP_001271439.1:p.Trp287del
NM_177550.4:c.989_991del , LRG_1020t1:c.989_991del	NP_808218.1:p.Trp330del
XM_006721504.2:c.878_880del	XP_006721567.1:p.Trp293del
XM_011523795.1:c.989_991del	XP_011522097.1:p.Trp330del
XM_011523795.3:c.989_991del	XP_011522097.1:p.Trp330del
NM_001143838.3:c.989_991del	NP_001137310.1:p.Trp330del
NM_001284509.2:c.938_940del	NP_001271438.1:p.Trp313del
NM_001284510.2:c.860_862del	NP_001271439.1:p.Trp287del
NM_177550.5:c.989_991del MANE Select	NP_808218.1:p.Trp330del