Canonical Allele Identifier: CA2808351847
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6687785_6687786insCTT , CM000679.2:g.6687785_6687786insCTT GRCh38
NC_000017.10:g.6591104_6591105insCTT , CM000679.1:g.6591104_6591105insCTT GRCh37
NC_000017.9:g.6531828_6531829insCTT NCBI36
NG_034220.1:g.30636_30637insAAG , LRG_1020:g.30636_30637insAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1438-120_1438-119insAAG (SLC13A5) MANE Select ENSP00000406220.2:n.1438-120_1438-119insAAG
ENST00000635042.1:n.725-5080_725-5079insCTT (C17orf100)
ENST00000293800.10:c.1387-120_1387-119insAAG (SLC13A5) ENSP00000293800.6:n.1387-120_1387-119insAAG
ENST00000381074.8:c.1309-120_1309-119insAAG (SLC13A5) ENSP00000370464.4:n.1309-120_1309-119insAAG
ENST00000433363.6:c.1438-120_1438-119insAAG (SLC13A5) ENSP00000406220.2:n.1438-120_1438-119insAAG
ENST00000570687.1:c.107-120_107-119insAAG (SLC13A5)
ENST00000573648.5:c.1438-1448_1438-1447insAAG (SLC13A5) ENSP00000459372.1:n.1438-1448_1438-1447insAAG
ENST00000574580.2:n.2335_2336insAAG (SLC13A5)
ENST00000634558.1:n.511-2091_511-2090insCTT (ALOX15P1)
ENST00000634823.1:n.265-5080_265-5079insCTT (ALOX15P1)
NM_001143838.2:c.1438-1448_1438-1447insAAG (SLC13A5) NP_001137310.1:n.1438-1448_1438-1447insAAG
NM_001284509.1:c.1387-120_1387-119insAAG (SLC13A5) NP_001271438.1:n.1387-120_1387-119insAAG
NM_001284510.1:c.1309-120_1309-119insAAG (SLC13A5) NP_001271439.1:n.1309-120_1309-119insAAG
NM_177550.4:c.1438-120_1438-119insAAG , LRG_1020t1:c.1438-120_1438-119insAAG (SLC13A5) NP_808218.1:n.1438-120_1438-119insAAG
XM_006721504.2:c.1327-120_1327-119insAAG (SLC13A5) XP_006721567.1:n.1327-120_1327-119insAAG
XM_011523795.1:c.1488_1489insAAG (SLC13A5) XP_011522097.1:p.Asn496_Gln497insLys
XM_011523795.3:c.1488_1489insAAG (SLC13A5) XP_011522097.1:p.Asn496_Gln497insLys
NM_001143838.3:c.1438-1448_1438-1447insAAG (SLC13A5) NP_001137310.1:n.1438-1448_1438-1447insAAG
NM_001284509.2:c.1387-120_1387-119insAAG (SLC13A5) NP_001271438.1:n.1387-120_1387-119insAAG
NM_001284510.2:c.1309-120_1309-119insAAG (SLC13A5) NP_001271439.1:n.1309-120_1309-119insAAG
NM_177550.5:c.1438-120_1438-119insAAG (SLC13A5) MANE Select NP_808218.1:n.1438-120_1438-119insAAG