Canonical Allele Identifier: CA774271716

Gene: SLC13A5

Linked Data

• dbSNP Id: rs1302134169
• gnomAD v3: 17-6696001-GA-G
• gnomAD v4: 17-6696001-GA-G
• MyVariant Identifiers: chr17:g.6599321del (hg19) ; chr17:g.6696002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6696002del , CM000679.2:g.6696002del	GRCh38
NC_000017.10:g.6599321del , CM000679.1:g.6599321del	GRCh37
NC_000017.9:g.6540045del	NCBI36
NG_034220.1:g.22420del , LRG_1020:g.22420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.840-61del MANE Select	ENSP00000406220.2:n.840-61del
ENST00000293800.10:c.789-61del	ENSP00000293800.6:n.789-61del
ENST00000381074.8:c.711-61del	ENSP00000370464.4:n.711-61del
ENST00000433363.6:c.840-61del	ENSP00000406220.2:n.840-61del
ENST00000572094.1:c.*590-61del	ENSP00000461495.1:n.*590-61del
ENST00000573648.5:c.840-61del	ENSP00000459372.1:n.840-61del
ENST00000574824.5:n.1973-61del
NM_001143838.2:c.840-61del	NP_001137310.1:n.840-61del
NM_001284509.1:c.789-61del	NP_001271438.1:n.789-61del
NM_001284510.1:c.711-61del	NP_001271439.1:n.711-61del
NM_177550.4:c.840-61del , LRG_1020t1:c.840-61del	NP_808218.1:n.840-61del
XM_006721504.2:c.729-61del	XP_006721567.1:n.729-61del
XM_011523795.1:c.840-61del	XP_011522097.1:n.840-61del
XM_011523795.3:c.840-61del	XP_011522097.1:n.840-61del
NM_001143838.3:c.840-61del	NP_001137310.1:n.840-61del
NM_001284509.2:c.789-61del	NP_001271438.1:n.789-61del
NM_001284510.2:c.711-61del	NP_001271439.1:n.711-61del
NM_177550.5:c.840-61del MANE Select	NP_808218.1:n.840-61del