Canonical Allele Identifier: CA16043136
Gene: SLC13A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 372505
ClinVar RCV Id: RCV000413222
dbSNP Id: rs1057517820
MyVariant Identifiers: chr17:g.6607233del (hg19) chr17:g.6703914del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703915del , CM000679.2:g.6703915del GRCh38
NC_000017.10:g.6607234del , CM000679.1:g.6607234del GRCh37
NC_000017.9:g.6547958del NCBI36
NG_034220.1:g.14508del , LRG_1020:g.14508del

Transcript Alleles

HGVS Amino-acid change
ENST00000433363.7:c.511del MANE Select ENSP00000406220.2:p.Glu171SerfsTer16
ENST00000293800.10:c.460del ENSP00000293800.6:p.Glu154SerfsTer16
ENST00000381074.8:c.382del ENSP00000370464.4:p.Glu128SerfsTer16
ENST00000433363.6:c.511del ENSP00000406220.2:p.Glu171SerfsTer16
ENST00000572094.1:c.*261del ENSP00000461495.1:n.*261del
ENST00000572352.5:c.400del ENSP00000461622.1:p.Glu134SerfsTer16
ENST00000573648.5:c.511del ENSP00000459372.1:p.Glu171SerfsTer16
ENST00000574824.5:n.1644del
ENST00000576323.1:n.541del
NM_001143838.2:c.511del NP_001137310.1:p.Glu171SerfsTer16
NM_001284509.1:c.460del NP_001271438.1:p.Glu154SerfsTer16
NM_001284510.1:c.382del NP_001271439.1:p.Glu128SerfsTer16
NM_177550.4:c.511del , LRG_1020t1:c.511del NP_808218.1:p.Glu171SerfsTer16
XM_006721504.2:c.400del XP_006721567.1:p.Glu134SerfsTer16
XM_011523795.1:c.511del XP_011522097.1:p.Glu171SerfsTer16
XM_011523795.3:c.511del XP_011522097.1:p.Glu171SerfsTer16
NM_001143838.3:c.511del NP_001137310.1:p.Glu171SerfsTer16
NM_001284509.2:c.460del NP_001271438.1:p.Glu154SerfsTer16
NM_001284510.2:c.382del NP_001271439.1:p.Glu128SerfsTer16
NM_177550.5:c.511del MANE Select NP_808218.1:p.Glu171SerfsTer16
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