Canonical Allele Identifier: CA2576144306
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6707171_6707172del , CM000679.2:g.6707171_6707172del GRCh38
NC_000017.10:g.6610490_6610491del , CM000679.1:g.6610490_6610491del GRCh37
NC_000017.9:g.6551214_6551215del NCBI36
NG_034220.1:g.11250_11251del , LRG_1020:g.11250_11251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.103-16_103-15del MANE Select ENSP00000406220.2:n.103-16_103-15del
ENST00000293800.10:c.103-16_103-15del ENSP00000293800.6:n.103-16_103-15del
ENST00000381074.8:c.103-394_103-393del ENSP00000370464.4:n.103-394_103-393del
ENST00000433363.6:c.103-16_103-15del ENSP00000406220.2:n.103-16_103-15del
ENST00000572094.1:c.103-16_103-15del ENSP00000461495.1:n.103-16_103-15del
ENST00000572352.5:c.103-127_103-126del ENSP00000461622.1:n.103-127_103-126del
ENST00000573648.5:c.103-16_103-15del ENSP00000459372.1:n.103-16_103-15del
ENST00000575230.1:c.103-16_103-15del ENSP00000460903.1:n.103-16_103-15del
ENST00000576323.1:n.141-24_141-23del
NM_001143838.2:c.103-16_103-15del NP_001137310.1:n.103-16_103-15del
NM_001284509.1:c.103-16_103-15del NP_001271438.1:n.103-16_103-15del
NM_001284510.1:c.103-394_103-393del NP_001271439.1:n.103-394_103-393del
NM_177550.4:c.103-16_103-15del , LRG_1020t1:c.103-16_103-15del NP_808218.1:n.103-16_103-15del
XM_006721504.2:c.103-127_103-126del XP_006721567.1:n.103-127_103-126del
XM_011523795.1:c.103-16_103-15del XP_011522097.1:n.103-16_103-15del
XM_011523795.3:c.103-16_103-15del XP_011522097.1:n.103-16_103-15del
NM_001143838.3:c.103-16_103-15del NP_001137310.1:n.103-16_103-15del
NM_001284509.2:c.103-16_103-15del NP_001271438.1:n.103-16_103-15del
NM_001284510.2:c.103-394_103-393del NP_001271439.1:n.103-394_103-393del
NM_177550.5:c.103-16_103-15del MANE Select NP_808218.1:n.103-16_103-15del