Canonical Allele Identifier: CA645293897

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 426419
• ClinVar RCV Id: RCV000489414
• dbSNP Id: rs1085307616
• MyVariant Identifiers: chr17:g.6607206_6607211dup (hg19) ; chr17:g.6607205_6607206insCCTTGG (hg19) ; chr17:g.6703887_6703892dup (hg38) ; chr17:g.6703886_6703887insCCTTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703892_6703897dup , CM000679.2:g.6703892_6703897dup	GRCh38
NC_000017.10:g.6607211_6607216dup , CM000679.1:g.6607211_6607216dup	GRCh37
NC_000017.9:g.6547935_6547940dup	NCBI36
NG_034220.1:g.14530_14535dup , LRG_1020:g.14530_14535dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.533_538dup MANE Select	ENSP00000406220.2:p.Lys179_Glu180insAlaLys
ENST00000293800.10:c.482_487dup	ENSP00000293800.6:p.Lys162_Glu163insAlaLys
ENST00000381074.8:c.404_409dup	ENSP00000370464.4:p.Lys136_Glu137insAlaLys
ENST00000433363.6:c.533_538dup	ENSP00000406220.2:p.Lys179_Glu180insAlaLys
ENST00000572094.1:c.*283_*288dup	ENSP00000461495.1:n.*283_*288dup
ENST00000572352.5:c.422_427dup	ENSP00000461622.1:p.Lys142_Glu143insAlaLys
ENST00000573648.5:c.533_538dup	ENSP00000459372.1:p.Lys179_Glu180insAlaLys
ENST00000574824.5:n.1666_1671dup
ENST00000576323.1:n.563_568dup
NM_001143838.2:c.533_538dup	NP_001137310.1:p.Lys179_Glu180insAlaLys
NM_001284509.1:c.482_487dup	NP_001271438.1:p.Lys162_Glu163insAlaLys
NM_001284510.1:c.404_409dup	NP_001271439.1:p.Lys136_Glu137insAlaLys
NM_177550.4:c.533_538dup , LRG_1020t1:c.533_538dup	NP_808218.1:p.Lys179_Glu180insAlaLys
XM_006721504.2:c.422_427dup	XP_006721567.1:p.Lys142_Glu143insAlaLys
XM_011523795.1:c.533_538dup	XP_011522097.1:p.Lys179_Glu180insAlaLys
XM_011523795.3:c.533_538dup	XP_011522097.1:p.Lys179_Glu180insAlaLys
NM_001143838.3:c.533_538dup	NP_001137310.1:p.Lys179_Glu180insAlaLys
NM_001284509.2:c.482_487dup	NP_001271438.1:p.Lys162_Glu163insAlaLys
NM_001284510.2:c.404_409dup	NP_001271439.1:p.Lys136_Glu137insAlaLys
NM_177550.5:c.533_538dup MANE Select	NP_808218.1:p.Lys179_Glu180insAlaLys