Canonical Allele Identifier: CA8331716

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 1474663
• ClinVar RCV Id: RCV002007680
• dbSNP Id: rs769931974
• ExAC: 17:6607306 GGCCGTGGTT / G
• gnomAD v2: 17-6607306-GGCCGTGGTT-G
• gnomAD v4: 17-6703987-GGCCGTGGTT-G
• MyVariant Identifiers: chr17:g.6607307_6607315del (hg19) ; chr17:g.6703988_6703996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703994_6704002del , CM000679.2:g.6703994_6704002del	GRCh38
NC_000017.10:g.6607313_6607321del , CM000679.1:g.6607313_6607321del	GRCh37
NC_000017.9:g.6548037_6548045del	NCBI36
NG_034220.1:g.14426_14434del , LRG_1020:g.14426_14434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.429_437del MANE Select	ENSP00000406220.2:p.Thr144_Ala146del
ENST00000293800.10:c.378_386del	ENSP00000293800.6:p.Thr127_Ala129del
ENST00000381074.8:c.300_308del	ENSP00000370464.4:p.Thr101_Ala103del
ENST00000433363.6:c.429_437del	ENSP00000406220.2:p.Thr144_Ala146del
ENST00000572094.1:c.*179_*187del	ENSP00000461495.1:n.*179_*187del
ENST00000572352.5:c.318_326del	ENSP00000461622.1:p.Thr107_Ala109del
ENST00000573648.5:c.429_437del	ENSP00000459372.1:p.Thr144_Ala146del
ENST00000574824.5:n.1562_1570del
ENST00000576323.1:n.459_467del
NM_001143838.2:c.429_437del	NP_001137310.1:p.Thr144_Ala146del
NM_001284509.1:c.378_386del	NP_001271438.1:p.Thr127_Ala129del
NM_001284510.1:c.300_308del	NP_001271439.1:p.Thr101_Ala103del
NM_177550.4:c.429_437del , LRG_1020t1:c.429_437del	NP_808218.1:p.Thr144_Ala146del
XM_006721504.2:c.318_326del	XP_006721567.1:p.Thr107_Ala109del
XM_011523795.1:c.429_437del	XP_011522097.1:p.Thr144_Ala146del
XM_011523795.3:c.429_437del	XP_011522097.1:p.Thr144_Ala146del
NM_001143838.3:c.429_437del	NP_001137310.1:p.Thr144_Ala146del
NM_001284509.2:c.378_386del	NP_001271438.1:p.Thr127_Ala129del
NM_001284510.2:c.300_308del	NP_001271439.1:p.Thr101_Ala103del
NM_177550.5:c.429_437del MANE Select	NP_808218.1:p.Thr144_Ala146del