Canonical Allele Identifier: CA2635729422

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6703750-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703754_6703755del , CM000679.2:g.6703754_6703755del	GRCh38
NC_000017.10:g.6607073_6607074del , CM000679.1:g.6607073_6607074del	GRCh37
NC_000017.9:g.6547797_6547798del	NCBI36
NG_034220.1:g.14670_14671del , LRG_1020:g.14670_14671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.547+126_547+127del MANE Select	ENSP00000406220.2:n.547+126_547+127del
ENST00000293800.10:c.496+126_496+127del	ENSP00000293800.6:n.496+126_496+127del
ENST00000381074.8:c.418+126_418+127del	ENSP00000370464.4:n.418+126_418+127del
ENST00000433363.6:c.547+126_547+127del	ENSP00000406220.2:n.547+126_547+127del
ENST00000572094.1:c.*297+126_*297+127del	ENSP00000461495.1:n.*297+126_*297+127del
ENST00000572352.5:c.436+126_436+127del	ENSP00000461622.1:n.436+126_436+127del
ENST00000573648.5:c.547+126_547+127del	ENSP00000459372.1:n.547+126_547+127del
ENST00000574824.5:n.1680+126_1680+127del
NM_001143838.2:c.547+126_547+127del	NP_001137310.1:n.547+126_547+127del
NM_001284509.1:c.496+126_496+127del	NP_001271438.1:n.496+126_496+127del
NM_001284510.1:c.418+126_418+127del	NP_001271439.1:n.418+126_418+127del
NM_177550.4:c.547+126_547+127del , LRG_1020t1:c.547+126_547+127del	NP_808218.1:n.547+126_547+127del
XM_006721504.2:c.436+126_436+127del	XP_006721567.1:n.436+126_436+127del
XM_011523795.1:c.547+126_547+127del	XP_011522097.1:n.547+126_547+127del
XM_011523795.3:c.547+126_547+127del	XP_011522097.1:n.547+126_547+127del
NM_001143838.3:c.547+126_547+127del	NP_001137310.1:n.547+126_547+127del
NM_001284509.2:c.496+126_496+127del	NP_001271438.1:n.496+126_496+127del
NM_001284510.2:c.418+126_418+127del	NP_001271439.1:n.418+126_418+127del
NM_177550.5:c.547+126_547+127del MANE Select	NP_808218.1:n.547+126_547+127del