Canonical Allele Identifier: CA2635723430

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6704001-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704002del , CM000679.2:g.6704002del	GRCh38
NC_000017.10:g.6607321del , CM000679.1:g.6607321del	GRCh37
NC_000017.9:g.6548045del	NCBI36
NG_034220.1:g.14420del , LRG_1020:g.14420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.423del MANE Select	ENSP00000406220.2:p.Asn141LysfsTer7
ENST00000293800.10:c.372del	ENSP00000293800.6:p.Asn124LysfsTer7
ENST00000381074.8:c.294del	ENSP00000370464.4:p.Asn98LysfsTer7
ENST00000433363.6:c.423del	ENSP00000406220.2:p.Asn141LysfsTer7
ENST00000572094.1:c.*173del	ENSP00000461495.1:n.*173del
ENST00000572352.5:c.312del	ENSP00000461622.1:p.Asn104LysfsTer7
ENST00000573648.5:c.423del	ENSP00000459372.1:p.Asn141LysfsTer7
ENST00000574824.5:n.1556del
ENST00000576323.1:n.453del
NM_001143838.2:c.423del	NP_001137310.1:p.Asn141LysfsTer7
NM_001284509.1:c.372del	NP_001271438.1:p.Asn124LysfsTer7
NM_001284510.1:c.294del	NP_001271439.1:p.Asn98LysfsTer7
NM_177550.4:c.423del , LRG_1020t1:c.423del	NP_808218.1:p.Asn141LysfsTer7
XM_006721504.2:c.312del	XP_006721567.1:p.Asn104LysfsTer7
XM_011523795.1:c.423del	XP_011522097.1:p.Asn141LysfsTer7
XM_011523795.3:c.423del	XP_011522097.1:p.Asn141LysfsTer7
NM_001143838.3:c.423del	NP_001137310.1:p.Asn141LysfsTer7
NM_001284509.2:c.372del	NP_001271438.1:p.Asn124LysfsTer7
NM_001284510.2:c.294del	NP_001271439.1:p.Asn98LysfsTer7
NM_177550.5:c.423del MANE Select	NP_808218.1:p.Asn141LysfsTer7