Canonical Allele Identifier: CA2245482538
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6687511_6687512delinsTA , CM000679.2:g.6687511_6687512delinsTA GRCh38
NC_000017.10:g.6590830_6590831delinsTA , CM000679.1:g.6590830_6590831delinsTA GRCh37
NC_000017.9:g.6531554_6531555delinsTA NCBI36
NG_034220.1:g.30910_30911delinsTA , LRG_1020:g.30910_30911delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1575+17_1575+18delinsTA (SLC13A5) MANE Select ENSP00000406220.2:n.1575+17_1575+18delinsTA
ENST00000635042.1:n.725-5354_725-5353delinsTA (C17orf100)
ENST00000293800.10:c.1524+17_1524+18delinsTA (SLC13A5) ENSP00000293800.6:n.1524+17_1524+18delinsTA
ENST00000381074.8:c.1446+17_1446+18delinsTA (SLC13A5) ENSP00000370464.4:n.1446+17_1446+18delinsTA
ENST00000433363.6:c.1575+17_1575+18delinsTA (SLC13A5) ENSP00000406220.2:n.1575+17_1575+18delinsTA
ENST00000570687.1:c.261_262delinsTA (SLC13A5)
ENST00000573648.5:c.1438-1174_1438-1173delinsTA (SLC13A5) ENSP00000459372.1:n.1438-1174_1438-1173delinsTA
ENST00000574580.2:n.2609_2610delinsTA (SLC13A5)
ENST00000634558.1:n.511-2365_511-2364delinsTA (ALOX15P1)
ENST00000634823.1:n.265-5354_265-5353delinsTA (ALOX15P1)
NM_001143838.2:c.1438-1174_1438-1173delinsTA (SLC13A5) NP_001137310.1:n.1438-1174_1438-1173delinsTA
NM_001284509.1:c.1524+17_1524+18delinsTA (SLC13A5) NP_001271438.1:n.1524+17_1524+18delinsTA
NM_001284510.1:c.1446+17_1446+18delinsTA (SLC13A5) NP_001271439.1:n.1446+17_1446+18delinsTA
NM_177550.4:c.1575+17_1575+18delinsTA , LRG_1020t1:c.1575+17_1575+18delinsTA (SLC13A5) NP_808218.1:n.1575+17_1575+18delinsTA
XM_006721504.2:c.1464+17_1464+18delinsTA (SLC13A5) XP_006721567.1:n.1464+17_1464+18delinsTA
XM_011523795.3:c.*265_*266delinsTA (SLC13A5) XP_011522097.1:n.*265_*266delinsTA
NM_001143838.3:c.1438-1174_1438-1173delinsTA (SLC13A5) NP_001137310.1:n.1438-1174_1438-1173delinsTA
NM_001284509.2:c.1524+17_1524+18delinsTA (SLC13A5) NP_001271438.1:n.1524+17_1524+18delinsTA
NM_001284510.2:c.1446+17_1446+18delinsTA (SLC13A5) NP_001271439.1:n.1446+17_1446+18delinsTA
NM_177550.5:c.1575+17_1575+18delinsTA (SLC13A5) MANE Select NP_808218.1:n.1575+17_1575+18delinsTA