Canonical Allele Identifier: CA2245482575
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6687537_6687538delinsCA , CM000679.2:g.6687537_6687538delinsCA GRCh38
NC_000017.10:g.6590856_6590857delinsCA , CM000679.1:g.6590856_6590857delinsCA GRCh37
NC_000017.9:g.6531580_6531581delinsCA NCBI36
NG_034220.1:g.30884_30885delinsTG , LRG_1020:g.30884_30885delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1566_1567delinsTG (SLC13A5) MANE Select ENSP00000406220.2:p.Val522=
ENST00000635042.1:n.725-5328_725-5327delinsCA (C17orf100)
ENST00000293800.10:c.1515_1516delinsTG (SLC13A5) ENSP00000293800.6:p.Val505=
ENST00000381074.8:c.1437_1438delinsTG (SLC13A5) ENSP00000370464.4:p.Val479=
ENST00000433363.6:c.1566_1567delinsTG (SLC13A5) ENSP00000406220.2:p.Val522=
ENST00000570687.1:c.235_236delinsTG (SLC13A5)
ENST00000573648.5:c.1438-1200_1438-1199delinsTG (SLC13A5) ENSP00000459372.1:n.1438-1200_1438-1199delinsTG
ENST00000574580.2:n.2583_2584delinsTG (SLC13A5)
ENST00000634558.1:n.511-2339_511-2338delinsCA (ALOX15P1)
ENST00000634823.1:n.265-5328_265-5327delinsCA (ALOX15P1)
NM_001143838.2:c.1438-1200_1438-1199delinsTG (SLC13A5) NP_001137310.1:n.1438-1200_1438-1199delinsTG
NM_001284509.1:c.1515_1516delinsTG (SLC13A5) NP_001271438.1:p.Val505=
NM_001284510.1:c.1437_1438delinsTG (SLC13A5) NP_001271439.1:p.Val479=
NM_177550.4:c.1566_1567delinsTG , LRG_1020t1:c.1566_1567delinsTG (SLC13A5) NP_808218.1:p.Val522=
XM_006721504.2:c.1455_1456delinsTG (SLC13A5) XP_006721567.1:p.Val485=
XM_011523795.3:c.*239_*240delinsTG (SLC13A5) XP_011522097.1:n.*239_*240delinsTG
NM_001143838.3:c.1438-1200_1438-1199delinsTG (SLC13A5) NP_001137310.1:n.1438-1200_1438-1199delinsTG
NM_001284509.2:c.1515_1516delinsTG (SLC13A5) NP_001271438.1:p.Val505=
NM_001284510.2:c.1437_1438delinsTG (SLC13A5) NP_001271439.1:p.Val479=
NM_177550.5:c.1566_1567delinsTG (SLC13A5) MANE Select NP_808218.1:p.Val522=