Canonical Allele Identifier: CA2245487619
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695907_6695908delinsTG , CM000679.2:g.6695907_6695908delinsTG GRCh38
NC_000017.10:g.6599226_6599227delinsTG , CM000679.1:g.6599226_6599227delinsTG GRCh37
NC_000017.9:g.6539950_6539951delinsTG NCBI36
NG_034220.1:g.22514_22515delinsCA , LRG_1020:g.22514_22515delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.873_874delinsCA MANE Select ENSP00000406220.2:p.Ser291=
ENST00000293800.10:c.822_823delinsCA ENSP00000293800.6:p.Ser274=
ENST00000381074.8:c.744_745delinsCA ENSP00000370464.4:p.Ser248=
ENST00000433363.6:c.873_874delinsCA ENSP00000406220.2:p.Ser291=
ENST00000572094.1:c.*623_*624delinsCA ENSP00000461495.1:n.*623_*624delinsCA
ENST00000573648.5:c.873_874delinsCA ENSP00000459372.1:p.Ser291=
ENST00000574824.5:n.2006_2007delinsCA
NM_001143838.2:c.873_874delinsCA NP_001137310.1:p.Ser291=
NM_001284509.1:c.822_823delinsCA NP_001271438.1:p.Ser274=
NM_001284510.1:c.744_745delinsCA NP_001271439.1:p.Ser248=
NM_177550.4:c.873_874delinsCA , LRG_1020t1:c.873_874delinsCA NP_808218.1:p.Ser291=
XM_006721504.2:c.762_763delinsCA XP_006721567.1:p.Ser254=
XM_011523795.1:c.873_874delinsCA XP_011522097.1:p.Ser291=
XM_011523795.3:c.873_874delinsCA XP_011522097.1:p.Ser291=
NM_001143838.3:c.873_874delinsCA NP_001137310.1:p.Ser291=
NM_001284509.2:c.822_823delinsCA NP_001271438.1:p.Ser274=
NM_001284510.2:c.744_745delinsCA NP_001271439.1:p.Ser248=
NM_177550.5:c.873_874delinsCA MANE Select NP_808218.1:p.Ser291=