Canonical Allele Identifier: CA2245483025
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6687841_6687842delinsAG , CM000679.2:g.6687841_6687842delinsAG GRCh38
NC_000017.10:g.6591160_6591161delinsAG , CM000679.1:g.6591160_6591161delinsAG GRCh37
NC_000017.9:g.6531884_6531885delinsAG NCBI36
NG_034220.1:g.30580_30581delinsCT , LRG_1020:g.30580_30581delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1438-176_1438-175delinsCT (SLC13A5) MANE Select ENSP00000406220.2:n.1438-176_1438-175delinsCT
ENST00000635042.1:n.725-5024_725-5023delinsAG (C17orf100)
ENST00000293800.10:c.1387-176_1387-175delinsCT (SLC13A5) ENSP00000293800.6:n.1387-176_1387-175delinsCT
ENST00000381074.8:c.1309-176_1309-175delinsCT (SLC13A5) ENSP00000370464.4:n.1309-176_1309-175delinsCT
ENST00000433363.6:c.1438-176_1438-175delinsCT (SLC13A5) ENSP00000406220.2:n.1438-176_1438-175delinsCT
ENST00000570687.1:c.107-176_107-175delinsCT (SLC13A5)
ENST00000573648.5:c.1438-1504_1438-1503delinsCT (SLC13A5) ENSP00000459372.1:n.1438-1504_1438-1503delinsCT
ENST00000574580.2:n.2279_2280delinsCT (SLC13A5)
ENST00000634558.1:n.511-2035_511-2034delinsAG (ALOX15P1)
ENST00000634823.1:n.265-5024_265-5023delinsAG (ALOX15P1)
NM_001143838.2:c.1438-1504_1438-1503delinsCT (SLC13A5) NP_001137310.1:n.1438-1504_1438-1503delinsCT
NM_001284509.1:c.1387-176_1387-175delinsCT (SLC13A5) NP_001271438.1:n.1387-176_1387-175delinsCT
NM_001284510.1:c.1309-176_1309-175delinsCT (SLC13A5) NP_001271439.1:n.1309-176_1309-175delinsCT
NM_177550.4:c.1438-176_1438-175delinsCT , LRG_1020t1:c.1438-176_1438-175delinsCT (SLC13A5) NP_808218.1:n.1438-176_1438-175delinsCT
XM_006721504.2:c.1327-176_1327-175delinsCT (SLC13A5) XP_006721567.1:n.1327-176_1327-175delinsCT
XM_011523795.1:c.1438-6_1438-5delinsCT (SLC13A5) XP_011522097.1:n.1438-6_1438-5delinsCT
XM_011523795.3:c.1438-6_1438-5delinsCT (SLC13A5) XP_011522097.1:n.1438-6_1438-5delinsCT
NM_001143838.3:c.1438-1504_1438-1503delinsCT (SLC13A5) NP_001137310.1:n.1438-1504_1438-1503delinsCT
NM_001284509.2:c.1387-176_1387-175delinsCT (SLC13A5) NP_001271438.1:n.1387-176_1387-175delinsCT
NM_001284510.2:c.1309-176_1309-175delinsCT (SLC13A5) NP_001271439.1:n.1309-176_1309-175delinsCT
NM_177550.5:c.1438-176_1438-175delinsCT (SLC13A5) MANE Select NP_808218.1:n.1438-176_1438-175delinsCT