Canonical Allele Identifier: CA2245459755

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703610_6703614delinsGAATA , CM000679.2:g.6703610_6703614delinsGAATA	GRCh38
NC_000017.10:g.6606929_6606933delinsGAATA , CM000679.1:g.6606929_6606933delinsGAATA	GRCh37
NC_000017.9:g.6547653_6547657delinsGAATA	NCBI36
NG_034220.1:g.14808_14812delinsTATTC , LRG_1020:g.14808_14812delinsTATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.547+264_547+268delinsTATTC MANE Select	ENSP00000406220.2:n.547+264_547+268delinsTATTC
ENST00000293800.10:c.496+264_496+268delinsTATTC	ENSP00000293800.6:n.496+264_496+268delinsTATTC
ENST00000381074.8:c.418+264_418+268delinsTATTC	ENSP00000370464.4:n.418+264_418+268delinsTATTC
ENST00000433363.6:c.547+264_547+268delinsTATTC	ENSP00000406220.2:n.547+264_547+268delinsTATTC
ENST00000572094.1:c.*297+264_*297+268delinsTATTC	ENSP00000461495.1:n.*297+264_*297+268delinsTATTC
ENST00000572352.5:c.436+264_436+268delinsTATTC	ENSP00000461622.1:n.436+264_436+268delinsTATTC
ENST00000573648.5:c.547+264_547+268delinsTATTC	ENSP00000459372.1:n.547+264_547+268delinsTATTC
ENST00000574824.5:n.1680+264_1680+268delinsTATTC
NM_001143838.2:c.547+264_547+268delinsTATTC	NP_001137310.1:n.547+264_547+268delinsTATTC
NM_001284509.1:c.496+264_496+268delinsTATTC	NP_001271438.1:n.496+264_496+268delinsTATTC
NM_001284510.1:c.418+264_418+268delinsTATTC	NP_001271439.1:n.418+264_418+268delinsTATTC
NM_177550.4:c.547+264_547+268delinsTATTC , LRG_1020t1:c.547+264_547+268delinsTATTC	NP_808218.1:n.547+264_547+268delinsTATTC
XM_006721504.2:c.436+264_436+268delinsTATTC	XP_006721567.1:n.436+264_436+268delinsTATTC
XM_011523795.1:c.547+264_547+268delinsTATTC	XP_011522097.1:n.547+264_547+268delinsTATTC
XM_011523795.3:c.547+264_547+268delinsTATTC	XP_011522097.1:n.547+264_547+268delinsTATTC
NM_001143838.3:c.547+264_547+268delinsTATTC	NP_001137310.1:n.547+264_547+268delinsTATTC
NM_001284509.2:c.496+264_496+268delinsTATTC	NP_001271438.1:n.496+264_496+268delinsTATTC
NM_001284510.2:c.418+264_418+268delinsTATTC	NP_001271439.1:n.418+264_418+268delinsTATTC
NM_177550.5:c.547+264_547+268delinsTATTC MANE Select	NP_808218.1:n.547+264_547+268delinsTATTC