Canonical Allele Identifier: CA774264155

Gene: SLC13A5

Linked Data

• dbSNP Id: rs1237348755
• gnomAD v3: 17-6707303-TG-T
• gnomAD v4: 17-6707303-TG-T
• MyVariant Identifiers: chr17:g.6610623del (hg19) ; chr17:g.6707304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6707305del , CM000679.2:g.6707305del	GRCh38
NC_000017.10:g.6610624del , CM000679.1:g.6610624del	GRCh37
NC_000017.9:g.6551348del	NCBI36
NG_034220.1:g.11118del , LRG_1020:g.11118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.103-148del MANE Select	ENSP00000406220.2:n.103-148del
ENST00000293800.10:c.103-148del	ENSP00000293800.6:n.103-148del
ENST00000381074.8:c.103-526del	ENSP00000370464.4:n.103-526del
ENST00000433363.6:c.103-148del	ENSP00000406220.2:n.103-148del
ENST00000572094.1:c.103-148del	ENSP00000461495.1:n.103-148del
ENST00000572352.5:c.103-259del	ENSP00000461622.1:n.103-259del
ENST00000573648.5:c.103-148del	ENSP00000459372.1:n.103-148del
ENST00000575230.1:c.103-148del	ENSP00000460903.1:n.103-148del
ENST00000576323.1:n.141-156del
NM_001143838.2:c.103-148del	NP_001137310.1:n.103-148del
NM_001284509.1:c.103-148del	NP_001271438.1:n.103-148del
NM_001284510.1:c.103-526del	NP_001271439.1:n.103-526del
NM_177550.4:c.103-148del , LRG_1020t1:c.103-148del	NP_808218.1:n.103-148del
XM_006721504.2:c.103-259del	XP_006721567.1:n.103-259del
XM_011523795.1:c.103-148del	XP_011522097.1:n.103-148del
XM_011523795.3:c.103-148del	XP_011522097.1:n.103-148del
NM_001143838.3:c.103-148del	NP_001137310.1:n.103-148del
NM_001284509.2:c.103-148del	NP_001271438.1:n.103-148del
NM_001284510.2:c.103-526del	NP_001271439.1:n.103-526del
NM_177550.5:c.103-148del MANE Select	NP_808218.1:n.103-148del