Canonical Allele Identifier: CA2245459624

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703516_6703517delinsAG , CM000679.2:g.6703516_6703517delinsAG	GRCh38
NC_000017.10:g.6606835_6606836delinsAG , CM000679.1:g.6606835_6606836delinsAG	GRCh37
NC_000017.9:g.6547559_6547560delinsAG	NCBI36
NG_034220.1:g.14905_14906delinsCT , LRG_1020:g.14905_14906delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.547+361_547+362delinsCT MANE Select	ENSP00000406220.2:n.547+361_547+362delinsCT
ENST00000293800.10:c.496+361_496+362delinsCT	ENSP00000293800.6:n.496+361_496+362delinsCT
ENST00000381074.8:c.418+361_418+362delinsCT	ENSP00000370464.4:n.418+361_418+362delinsCT
ENST00000433363.6:c.547+361_547+362delinsCT	ENSP00000406220.2:n.547+361_547+362delinsCT
ENST00000572094.1:c.*297+361_*297+362delinsCT	ENSP00000461495.1:n.*297+361_*297+362delinsCT
ENST00000572352.5:c.436+361_436+362delinsCT	ENSP00000461622.1:n.436+361_436+362delinsCT
ENST00000573648.5:c.547+361_547+362delinsCT	ENSP00000459372.1:n.547+361_547+362delinsCT
ENST00000574824.5:n.1680+361_1680+362delinsCT
NM_001143838.2:c.547+361_547+362delinsCT	NP_001137310.1:n.547+361_547+362delinsCT
NM_001284509.1:c.496+361_496+362delinsCT	NP_001271438.1:n.496+361_496+362delinsCT
NM_001284510.1:c.418+361_418+362delinsCT	NP_001271439.1:n.418+361_418+362delinsCT
NM_177550.4:c.547+361_547+362delinsCT , LRG_1020t1:c.547+361_547+362delinsCT	NP_808218.1:n.547+361_547+362delinsCT
XM_006721504.2:c.436+361_436+362delinsCT	XP_006721567.1:n.436+361_436+362delinsCT
XM_011523795.1:c.547+361_547+362delinsCT	XP_011522097.1:n.547+361_547+362delinsCT
XM_011523795.3:c.547+361_547+362delinsCT	XP_011522097.1:n.547+361_547+362delinsCT
NM_001143838.3:c.547+361_547+362delinsCT	NP_001137310.1:n.547+361_547+362delinsCT
NM_001284509.2:c.496+361_496+362delinsCT	NP_001271438.1:n.496+361_496+362delinsCT
NM_001284510.2:c.418+361_418+362delinsCT	NP_001271439.1:n.418+361_418+362delinsCT
NM_177550.5:c.547+361_547+362delinsCT MANE Select	NP_808218.1:n.547+361_547+362delinsCT