Canonical Allele Identifier: CA2245487569

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695788_6695789delinsGA , CM000679.2:g.6695788_6695789delinsGA	GRCh38
NC_000017.10:g.6599107_6599108delinsGA , CM000679.1:g.6599107_6599108delinsGA	GRCh37
NC_000017.9:g.6539831_6539832delinsGA	NCBI36
NG_034220.1:g.22633_22634delinsTC , LRG_1020:g.22633_22634delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000433363.7:c.992_993delinsTC MANE Select	ENSP00000406220.2:p.Phe331=
ENST00000293800.10:c.941_942delinsTC	ENSP00000293800.6:p.Phe314=
ENST00000381074.8:c.863_864delinsTC	ENSP00000370464.4:p.Phe288=
ENST00000433363.6:c.992_993delinsTC	ENSP00000406220.2:p.Phe331=
ENST00000572727.1:n.101_102delinsTC
ENST00000573648.5:c.992_993delinsTC	ENSP00000459372.1:p.Phe331=
ENST00000574824.5:n.2125_2126delinsTC
NM_001143838.2:c.992_993delinsTC	NP_001137310.1:p.Phe331=
NM_001284509.1:c.941_942delinsTC	NP_001271438.1:p.Phe314=
NM_001284510.1:c.863_864delinsTC	NP_001271439.1:p.Phe288=
NM_177550.4:c.992_993delinsTC , LRG_1020t1:c.992_993delinsTC	NP_808218.1:p.Phe331=
XM_006721504.2:c.881_882delinsTC	XP_006721567.1:p.Phe294=
XM_011523795.1:c.992_993delinsTC	XP_011522097.1:p.Phe331=
XM_011523795.3:c.992_993delinsTC	XP_011522097.1:p.Phe331=
NM_001143838.3:c.992_993delinsTC	NP_001137310.1:p.Phe331=
NM_001284509.2:c.941_942delinsTC	NP_001271438.1:p.Phe314=
NM_001284510.2:c.863_864delinsTC	NP_001271439.1:p.Phe288=
NM_177550.5:c.992_993delinsTC MANE Select	NP_808218.1:p.Phe331=