Canonical Allele Identifier: CA2576144273

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703990del , CM000679.2:g.6703990del	GRCh38
NC_000017.10:g.6607309del , CM000679.1:g.6607309del	GRCh37
NC_000017.9:g.6548033del	NCBI36
NG_034220.1:g.14433del , LRG_1020:g.14433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.436del MANE Select	ENSP00000406220.2:p.Ala146ProfsTer2
ENST00000293800.10:c.385del	ENSP00000293800.6:p.Ala129ProfsTer2
ENST00000381074.8:c.307del	ENSP00000370464.4:p.Ala103ProfsTer2
ENST00000433363.6:c.436del	ENSP00000406220.2:p.Ala146ProfsTer2
ENST00000572094.1:c.*186del	ENSP00000461495.1:n.*186del
ENST00000572352.5:c.325del	ENSP00000461622.1:p.Ala109ProfsTer2
ENST00000573648.5:c.436del	ENSP00000459372.1:p.Ala146ProfsTer2
ENST00000574824.5:n.1569del
ENST00000576323.1:n.466del
NM_001143838.2:c.436del	NP_001137310.1:p.Ala146ProfsTer2
NM_001284509.1:c.385del	NP_001271438.1:p.Ala129ProfsTer2
NM_001284510.1:c.307del	NP_001271439.1:p.Ala103ProfsTer2
NM_177550.4:c.436del , LRG_1020t1:c.436del	NP_808218.1:p.Ala146ProfsTer2
XM_006721504.2:c.325del	XP_006721567.1:p.Ala109ProfsTer2
XM_011523795.1:c.436del	XP_011522097.1:p.Ala146ProfsTer2
XM_011523795.3:c.436del	XP_011522097.1:p.Ala146ProfsTer2
NM_001143838.3:c.436del	NP_001137310.1:p.Ala146ProfsTer2
NM_001284509.2:c.385del	NP_001271438.1:p.Ala129ProfsTer2
NM_001284510.2:c.307del	NP_001271439.1:p.Ala103ProfsTer2
NM_177550.5:c.436del MANE Select	NP_808218.1:p.Ala146ProfsTer2