Canonical Allele Identifier: CA2245459987

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703825_6703830delinsAGGGAG , CM000679.2:g.6703825_6703830delinsAGGGAG	GRCh38
NC_000017.10:g.6607144_6607149delinsAGGGAG , CM000679.1:g.6607144_6607149delinsAGGGAG	GRCh37
NC_000017.9:g.6547868_6547873delinsAGGGAG	NCBI36
NG_034220.1:g.14592_14597delinsCTCCCT , LRG_1020:g.14592_14597delinsCTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.547+48_547+53delinsCTCCCT MANE Select	ENSP00000406220.2:n.547+48_547+53delinsCTCCCT
ENST00000293800.10:c.496+48_496+53delinsCTCCCT	ENSP00000293800.6:n.496+48_496+53delinsCTCCCT
ENST00000381074.8:c.418+48_418+53delinsCTCCCT	ENSP00000370464.4:n.418+48_418+53delinsCTCCCT
ENST00000433363.6:c.547+48_547+53delinsCTCCCT	ENSP00000406220.2:n.547+48_547+53delinsCTCCCT
ENST00000572094.1:c.*297+48_*297+53delinsCTCCCT	ENSP00000461495.1:n.*297+48_*297+53delinsCTCCCT
ENST00000572352.5:c.436+48_436+53delinsCTCCCT	ENSP00000461622.1:n.436+48_436+53delinsCTCCCT
ENST00000573648.5:c.547+48_547+53delinsCTCCCT	ENSP00000459372.1:n.547+48_547+53delinsCTCCCT
ENST00000574824.5:n.1680+48_1680+53delinsCTCCCT
NM_001143838.2:c.547+48_547+53delinsCTCCCT	NP_001137310.1:n.547+48_547+53delinsCTCCCT
NM_001284509.1:c.496+48_496+53delinsCTCCCT	NP_001271438.1:n.496+48_496+53delinsCTCCCT
NM_001284510.1:c.418+48_418+53delinsCTCCCT	NP_001271439.1:n.418+48_418+53delinsCTCCCT
NM_177550.4:c.547+48_547+53delinsCTCCCT , LRG_1020t1:c.547+48_547+53delinsCTCCCT	NP_808218.1:n.547+48_547+53delinsCTCCCT
XM_006721504.2:c.436+48_436+53delinsCTCCCT	XP_006721567.1:n.436+48_436+53delinsCTCCCT
XM_011523795.1:c.547+48_547+53delinsCTCCCT	XP_011522097.1:n.547+48_547+53delinsCTCCCT
XM_011523795.3:c.547+48_547+53delinsCTCCCT	XP_011522097.1:n.547+48_547+53delinsCTCCCT
NM_001143838.3:c.547+48_547+53delinsCTCCCT	NP_001137310.1:n.547+48_547+53delinsCTCCCT
NM_001284509.2:c.496+48_496+53delinsCTCCCT	NP_001271438.1:n.496+48_496+53delinsCTCCCT
NM_001284510.2:c.418+48_418+53delinsCTCCCT	NP_001271439.1:n.418+48_418+53delinsCTCCCT
NM_177550.5:c.547+48_547+53delinsCTCCCT MANE Select	NP_808218.1:n.547+48_547+53delinsCTCCCT