Canonical Allele Identifier: CA2635724167

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• gnomAD v4: 17-6687616-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687617_6687618del , CM000679.2:g.6687617_6687618del	GRCh38
NC_000017.10:g.6590936_6590937del , CM000679.1:g.6590936_6590937del	GRCh37
NC_000017.9:g.6531660_6531661del	NCBI36
NG_034220.1:g.30804_30805del , LRG_1020:g.30804_30805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1486_1487del (SLC13A5) MANE Select	ENSP00000406220.2:p.Leu496GlufsTer28
ENST00000635042.1:n.725-5248_725-5247del (C17orf100)
ENST00000293800.10:c.1435_1436del (SLC13A5)	ENSP00000293800.6:p.Leu479GlufsTer28
ENST00000381074.8:c.1357_1358del (SLC13A5)	ENSP00000370464.4:p.Leu453GlufsTer28
ENST00000433363.6:c.1486_1487del (SLC13A5)	ENSP00000406220.2:p.Leu496GlufsTer28
ENST00000570687.1:c.155_156del (SLC13A5)
ENST00000573648.5:c.1438-1280_1438-1279del (SLC13A5)	ENSP00000459372.1:n.1438-1280_1438-1279del
ENST00000574580.2:n.2503_2504del (SLC13A5)
ENST00000634558.1:n.511-2259_511-2258del (ALOX15P1)
ENST00000634823.1:n.265-5248_265-5247del (ALOX15P1)
NM_001143838.2:c.1438-1280_1438-1279del (SLC13A5)	NP_001137310.1:n.1438-1280_1438-1279del
NM_001284509.1:c.1435_1436del (SLC13A5)	NP_001271438.1:p.Leu479GlufsTer28
NM_001284510.1:c.1357_1358del (SLC13A5)	NP_001271439.1:p.Leu453GlufsTer28
NM_177550.4:c.1486_1487del , LRG_1020t1:c.1486_1487del (SLC13A5)	NP_808218.1:p.Leu496GlufsTer28
XM_006721504.2:c.1375_1376del (SLC13A5)	XP_006721567.1:p.Leu459GlufsTer28
XM_011523795.3:c.*159_*160del (SLC13A5)	XP_011522097.1:n.*159_*160del
NM_001143838.3:c.1438-1280_1438-1279del (SLC13A5)	NP_001137310.1:n.1438-1280_1438-1279del
NM_001284509.2:c.1435_1436del (SLC13A5)	NP_001271438.1:p.Leu479GlufsTer28
NM_001284510.2:c.1357_1358del (SLC13A5)	NP_001271439.1:p.Leu453GlufsTer28
NM_177550.5:c.1486_1487del (SLC13A5) MANE Select	NP_808218.1:p.Leu496GlufsTer28