Canonical Allele Identifier: CA2808351841
Gene: SLC13A5 HGNC NCBI
C17orf100 HGNC NCBI
ALOX15P1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6687779_6687792del , CM000679.2:g.6687779_6687792del GRCh38
NC_000017.10:g.6591098_6591111del , CM000679.1:g.6591098_6591111del GRCh37
NC_000017.9:g.6531822_6531835del NCBI36
NG_034220.1:g.30634_30647del , LRG_1020:g.30634_30647del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1438-122_1438-109del (SLC13A5) MANE Select ENSP00000406220.2:n.1438-122_1438-109del
ENST00000635042.1:n.725-5086_725-5073del (C17orf100)
ENST00000293800.10:c.1387-122_1387-109del (SLC13A5) ENSP00000293800.6:n.1387-122_1387-109del
ENST00000381074.8:c.1309-122_1309-109del (SLC13A5) ENSP00000370464.4:n.1309-122_1309-109del
ENST00000433363.6:c.1438-122_1438-109del (SLC13A5) ENSP00000406220.2:n.1438-122_1438-109del
ENST00000570687.1:c.107-122_107-109del (SLC13A5)
ENST00000573648.5:c.1438-1450_1438-1437del (SLC13A5) ENSP00000459372.1:n.1438-1450_1438-1437del
ENST00000574580.2:n.2333_2346del (SLC13A5)
ENST00000634558.1:n.511-2097_511-2084del (ALOX15P1)
ENST00000634823.1:n.265-5086_265-5073del (ALOX15P1)
NM_001143838.2:c.1438-1450_1438-1437del (SLC13A5) NP_001137310.1:n.1438-1450_1438-1437del
NM_001284509.1:c.1387-122_1387-109del (SLC13A5) NP_001271438.1:n.1387-122_1387-109del
NM_001284510.1:c.1309-122_1309-109del (SLC13A5) NP_001271439.1:n.1309-122_1309-109del
NM_177550.4:c.1438-122_1438-109del , LRG_1020t1:c.1438-122_1438-109del (SLC13A5) NP_808218.1:n.1438-122_1438-109del
XM_006721504.2:c.1327-122_1327-109del (SLC13A5) XP_006721567.1:n.1327-122_1327-109del
XM_011523795.1:c.1486_*2del (SLC13A5) XP_011522097.1:n.[c.1486_*2del;Asn496HisfsTer28]
XM_011523795.3:c.1486_*2del (SLC13A5) XP_011522097.1:n.[c.1486_*2del;Asn496HisfsTer28]
NM_001143838.3:c.1438-1450_1438-1437del (SLC13A5) NP_001137310.1:n.1438-1450_1438-1437del
NM_001284509.2:c.1387-122_1387-109del (SLC13A5) NP_001271438.1:n.1387-122_1387-109del
NM_001284510.2:c.1309-122_1309-109del (SLC13A5) NP_001271439.1:n.1309-122_1309-109del
NM_177550.5:c.1438-122_1438-109del (SLC13A5) MANE Select NP_808218.1:n.1438-122_1438-109del