Canonical Allele Identifier: CA2245487568

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695786_6695787delinsGA , CM000679.2:g.6695786_6695787delinsGA	GRCh38
NC_000017.10:g.6599105_6599106delinsGA , CM000679.1:g.6599105_6599106delinsGA	GRCh37
NC_000017.9:g.6539829_6539830delinsGA	NCBI36
NG_034220.1:g.22635_22636delinsTC , LRG_1020:g.22635_22636delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000433363.7:c.994_995delinsTC MANE Select	ENSP00000406220.2:p.Ser332=
ENST00000293800.10:c.943_944delinsTC	ENSP00000293800.6:p.Ser315=
ENST00000381074.8:c.865_866delinsTC	ENSP00000370464.4:p.Ser289=
ENST00000433363.6:c.994_995delinsTC	ENSP00000406220.2:p.Ser332=
ENST00000572727.1:n.103_104delinsTC
ENST00000573648.5:c.994_995delinsTC	ENSP00000459372.1:p.Ser332=
ENST00000574824.5:n.2127_2128delinsTC
NM_001143838.2:c.994_995delinsTC	NP_001137310.1:p.Ser332=
NM_001284509.1:c.943_944delinsTC	NP_001271438.1:p.Ser315=
NM_001284510.1:c.865_866delinsTC	NP_001271439.1:p.Ser289=
NM_177550.4:c.994_995delinsTC , LRG_1020t1:c.994_995delinsTC	NP_808218.1:p.Ser332=
XM_006721504.2:c.883_884delinsTC	XP_006721567.1:p.Ser295=
XM_011523795.1:c.994_995delinsTC	XP_011522097.1:p.Ser332=
XM_011523795.3:c.994_995delinsTC	XP_011522097.1:p.Ser332=
NM_001143838.3:c.994_995delinsTC	NP_001137310.1:p.Ser332=
NM_001284509.2:c.943_944delinsTC	NP_001271438.1:p.Ser315=
NM_001284510.2:c.865_866delinsTC	NP_001271439.1:p.Ser289=
NM_177550.5:c.994_995delinsTC MANE Select	NP_808218.1:p.Ser332=