Canonical Allele Identifier: CA624673746

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• ClinVar Variation Id: 664190
• ClinVar RCV Id: RCV000822230
• dbSNP Id: rs1255190713
• gnomAD v2: 17-6590931-CACTCAGGGT-C
• gnomAD v3: 17-6687612-CACTCAGGGT-C
• gnomAD v4: 17-6687612-CACTCAGGGT-C
• MyVariant Identifiers: chr17:g.6590932_6590940del (hg19) ; chr17:g.6687613_6687621del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687615_6687623del , CM000679.2:g.6687615_6687623del	GRCh38
NC_000017.10:g.6590934_6590942del , CM000679.1:g.6590934_6590942del	GRCh37
NC_000017.9:g.6531658_6531666del	NCBI36
NG_034220.1:g.30801_30809del , LRG_1020:g.30801_30809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1483_1491del (SLC13A5) MANE Select	ENSP00000406220.2:p.Thr495_Ser497del
ENST00000635042.1:n.725-5250_725-5242del (C17orf100)
ENST00000293800.10:c.1432_1440del (SLC13A5)	ENSP00000293800.6:p.Thr478_Ser480del
ENST00000381074.8:c.1354_1362del (SLC13A5)	ENSP00000370464.4:p.Thr452_Ser454del
ENST00000433363.6:c.1483_1491del (SLC13A5)	ENSP00000406220.2:p.Thr495_Ser497del
ENST00000570687.1:c.152_160del (SLC13A5)
ENST00000573648.5:c.1438-1283_1438-1275del (SLC13A5)	ENSP00000459372.1:n.1438-1283_1438-1275del
ENST00000574580.2:n.2500_2508del (SLC13A5)
ENST00000634558.1:n.511-2261_511-2253del (ALOX15P1)
ENST00000634823.1:n.265-5250_265-5242del (ALOX15P1)
NM_001143838.2:c.1438-1283_1438-1275del (SLC13A5)	NP_001137310.1:n.1438-1283_1438-1275del
NM_001284509.1:c.1432_1440del (SLC13A5)	NP_001271438.1:p.Thr478_Ser480del
NM_001284510.1:c.1354_1362del (SLC13A5)	NP_001271439.1:p.Thr452_Ser454del
NM_177550.4:c.1483_1491del , LRG_1020t1:c.1483_1491del (SLC13A5)	NP_808218.1:p.Thr495_Ser497del
XM_006721504.2:c.1372_1380del (SLC13A5)	XP_006721567.1:p.Thr458_Ser460del
XM_011523795.3:c.*156_*164del (SLC13A5)	XP_011522097.1:n.*156_*164del
NM_001143838.3:c.1438-1283_1438-1275del (SLC13A5)	NP_001137310.1:n.1438-1283_1438-1275del
NM_001284509.2:c.1432_1440del (SLC13A5)	NP_001271438.1:p.Thr478_Ser480del
NM_001284510.2:c.1354_1362del (SLC13A5)	NP_001271439.1:p.Thr452_Ser454del
NM_177550.5:c.1483_1491del (SLC13A5) MANE Select	NP_808218.1:p.Thr495_Ser497del