Canonical Allele Identifier: CA16043054
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373238
ClinVar RCV Id: RCV000414557
dbSNP Id: rs1057518299
MyVariant Identifiers: chr17:g.6596411dupG (hg19) chr17:g.6596410_6596411insG (hg19) chr17:g.6693092dupG (hg38) chr17:g.6693091_6693092insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6693092dup , CM000679.2:g.6693092dup GRCh38
NC_000017.10:g.6596411dup , CM000679.1:g.6596411dup GRCh37
NC_000017.9:g.6537135dup NCBI36
NG_034220.1:g.25330dup , LRG_1020:g.25330dup

Transcript Alleles

HGVS Amino-acid change
ENST00000433363.7:c.1227dup (SLC13A5) MANE Select ENSP00000406220.2:p.Ile410HisfsTer13
ENST00000635042.1:n.952dup (C17orf100)
ENST00000293800.10:c.1176dup (SLC13A5) ENSP00000293800.6:p.Ile393HisfsTer13
ENST00000381074.8:c.1098dup (SLC13A5) ENSP00000370464.4:p.Ile367HisfsTer13
ENST00000433363.6:c.1227dup (SLC13A5) ENSP00000406220.2:p.Ile410HisfsTer13
ENST00000572727.1:n.336dup (SLC13A5)
ENST00000573648.5:c.1227dup (SLC13A5) ENSP00000459372.1:p.Ile410HisfsTer13
ENST00000634558.1:n.890dup (ALOX15P1)
ENST00000634823.1:n.492dup (ALOX15P1)
NM_001143838.2:c.1227dup (SLC13A5) NP_001137310.1:p.Ile410HisfsTer13
NM_001284509.1:c.1176dup (SLC13A5) NP_001271438.1:p.Ile393HisfsTer13
NM_001284510.1:c.1098dup (SLC13A5) NP_001271439.1:p.Ile367HisfsTer13
NM_177550.4:c.1227dup , LRG_1020t1:c.1227dup (SLC13A5) NP_808218.1:p.Ile410HisfsTer13
XM_006721504.2:c.1116dup (SLC13A5) XP_006721567.1:p.Ile373HisfsTer13
XM_011523795.1:c.1227dup (SLC13A5) XP_011522097.1:p.Ile410HisfsTer13
XM_011523795.3:c.1227dup (SLC13A5) XP_011522097.1:p.Ile410HisfsTer13
NM_001143838.3:c.1227dup (SLC13A5) NP_001137310.1:p.Ile410HisfsTer13
NM_001284509.2:c.1176dup (SLC13A5) NP_001271438.1:p.Ile393HisfsTer13
NM_001284510.2:c.1098dup (SLC13A5) NP_001271439.1:p.Ile367HisfsTer13
NM_177550.5:c.1227dup (SLC13A5) MANE Select NP_808218.1:p.Ile410HisfsTer13
Search 100 bp 5'
Search 100 bp 3'