Canonical Allele Identifier: CA2635724099

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• gnomAD v4: 17-6687539-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687541del , CM000679.2:g.6687541del	GRCh38
NC_000017.10:g.6590860del , CM000679.1:g.6590860del	GRCh37
NC_000017.9:g.6531584del	NCBI36
NG_034220.1:g.30882del , LRG_1020:g.30882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1564del (SLC13A5) MANE Select	ENSP00000406220.2:p.Val522LeufsTer5
ENST00000635042.1:n.725-5324del (C17orf100)
ENST00000293800.10:c.1513del (SLC13A5)	ENSP00000293800.6:p.Val505LeufsTer5
ENST00000381074.8:c.1435del (SLC13A5)	ENSP00000370464.4:p.Val479LeufsTer5
ENST00000433363.6:c.1564del (SLC13A5)	ENSP00000406220.2:p.Val522LeufsTer5
ENST00000570687.1:c.233del (SLC13A5)
ENST00000573648.5:c.1438-1202del (SLC13A5)	ENSP00000459372.1:n.1438-1202del
ENST00000574580.2:n.2581del (SLC13A5)
ENST00000634558.1:n.511-2335del (ALOX15P1)
ENST00000634823.1:n.265-5324del (ALOX15P1)
NM_001143838.2:c.1438-1202del (SLC13A5)	NP_001137310.1:n.1438-1202del
NM_001284509.1:c.1513del (SLC13A5)	NP_001271438.1:p.Val505LeufsTer5
NM_001284510.1:c.1435del (SLC13A5)	NP_001271439.1:p.Val479LeufsTer5
NM_177550.4:c.1564del , LRG_1020t1:c.1564del (SLC13A5)	NP_808218.1:p.Val522LeufsTer5
XM_006721504.2:c.1453del (SLC13A5)	XP_006721567.1:p.Val485LeufsTer5
XM_011523795.3:c.*237del (SLC13A5)	XP_011522097.1:n.*237del
NM_001143838.3:c.1438-1202del (SLC13A5)	NP_001137310.1:n.1438-1202del
NM_001284509.2:c.1513del (SLC13A5)	NP_001271438.1:p.Val505LeufsTer5
NM_001284510.2:c.1435del (SLC13A5)	NP_001271439.1:p.Val479LeufsTer5
NM_177550.5:c.1564del (SLC13A5) MANE Select	NP_808218.1:p.Val522LeufsTer5