Canonical Allele Identifier: CA2245459716

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703588_6703592delinsAGTGC , CM000679.2:g.6703588_6703592delinsAGTGC	GRCh38
NC_000017.10:g.6606907_6606911delinsAGTGC , CM000679.1:g.6606907_6606911delinsAGTGC	GRCh37
NC_000017.9:g.6547631_6547635delinsAGTGC	NCBI36
NG_034220.1:g.14830_14834delinsGCACT , LRG_1020:g.14830_14834delinsGCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.547+286_547+290delinsGCACT MANE Select	ENSP00000406220.2:n.547+286_547+290delinsGCACT
ENST00000293800.10:c.496+286_496+290delinsGCACT	ENSP00000293800.6:n.496+286_496+290delinsGCACT
ENST00000381074.8:c.418+286_418+290delinsGCACT	ENSP00000370464.4:n.418+286_418+290delinsGCACT
ENST00000433363.6:c.547+286_547+290delinsGCACT	ENSP00000406220.2:n.547+286_547+290delinsGCACT
ENST00000572094.1:c.*297+286_*297+290delinsGCACT	ENSP00000461495.1:n.*297+286_*297+290delinsGCACT
ENST00000572352.5:c.436+286_436+290delinsGCACT	ENSP00000461622.1:n.436+286_436+290delinsGCACT
ENST00000573648.5:c.547+286_547+290delinsGCACT	ENSP00000459372.1:n.547+286_547+290delinsGCACT
ENST00000574824.5:n.1680+286_1680+290delinsGCACT
NM_001143838.2:c.547+286_547+290delinsGCACT	NP_001137310.1:n.547+286_547+290delinsGCACT
NM_001284509.1:c.496+286_496+290delinsGCACT	NP_001271438.1:n.496+286_496+290delinsGCACT
NM_001284510.1:c.418+286_418+290delinsGCACT	NP_001271439.1:n.418+286_418+290delinsGCACT
NM_177550.4:c.547+286_547+290delinsGCACT , LRG_1020t1:c.547+286_547+290delinsGCACT	NP_808218.1:n.547+286_547+290delinsGCACT
XM_006721504.2:c.436+286_436+290delinsGCACT	XP_006721567.1:n.436+286_436+290delinsGCACT
XM_011523795.1:c.547+286_547+290delinsGCACT	XP_011522097.1:n.547+286_547+290delinsGCACT
XM_011523795.3:c.547+286_547+290delinsGCACT	XP_011522097.1:n.547+286_547+290delinsGCACT
NM_001143838.3:c.547+286_547+290delinsGCACT	NP_001137310.1:n.547+286_547+290delinsGCACT
NM_001284509.2:c.496+286_496+290delinsGCACT	NP_001271438.1:n.496+286_496+290delinsGCACT
NM_001284510.2:c.418+286_418+290delinsGCACT	NP_001271439.1:n.418+286_418+290delinsGCACT
NM_177550.5:c.547+286_547+290delinsGCACT MANE Select	NP_808218.1:n.547+286_547+290delinsGCACT