Canonical Allele Identifier: CA774276524

Gene: SLC13A5

Linked Data

• dbSNP Id: rs1457980230
• gnomAD v3: 17-6703989-C-CCGTGGTTGCCG
• gnomAD v4: 17-6703989-C-CCGTGGTTGCCG
• MyVariant Identifiers: chr17:g.6607308_6607309insCGTGGTTGCCG (hg19) ; chr17:g.6703989_6703990insCGTGGTTGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703990_6704000dup , CM000679.2:g.6703990_6704000dup	GRCh38
NC_000017.10:g.6607309_6607319dup , CM000679.1:g.6607309_6607319dup	GRCh37
NC_000017.9:g.6548033_6548043dup	NCBI36
NG_034220.1:g.14422_14432dup , LRG_1020:g.14422_14432dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.425_435dup MANE Select	ENSP00000406220.2:p.Ala146ArgfsTer6
ENST00000293800.10:c.374_384dup	ENSP00000293800.6:p.Ala129ArgfsTer6
ENST00000381074.8:c.296_306dup	ENSP00000370464.4:p.Ala103ArgfsTer6
ENST00000433363.6:c.425_435dup	ENSP00000406220.2:p.Ala146ArgfsTer6
ENST00000572094.1:c.*175_*185dup	ENSP00000461495.1:n.*175_*185dup
ENST00000572352.5:c.314_324dup	ENSP00000461622.1:p.Ala109ArgfsTer6
ENST00000573648.5:c.425_435dup	ENSP00000459372.1:p.Ala146ArgfsTer6
ENST00000574824.5:n.1558_1568dup
ENST00000576323.1:n.455_465dup
NM_001143838.2:c.425_435dup	NP_001137310.1:p.Ala146ArgfsTer6
NM_001284509.1:c.374_384dup	NP_001271438.1:p.Ala129ArgfsTer6
NM_001284510.1:c.296_306dup	NP_001271439.1:p.Ala103ArgfsTer6
NM_177550.4:c.425_435dup , LRG_1020t1:c.425_435dup	NP_808218.1:p.Ala146ArgfsTer6
XM_006721504.2:c.314_324dup	XP_006721567.1:p.Ala109ArgfsTer6
XM_011523795.1:c.425_435dup	XP_011522097.1:p.Ala146ArgfsTer6
XM_011523795.3:c.425_435dup	XP_011522097.1:p.Ala146ArgfsTer6
NM_001143838.3:c.425_435dup	NP_001137310.1:p.Ala146ArgfsTer6
NM_001284509.2:c.374_384dup	NP_001271438.1:p.Ala129ArgfsTer6
NM_001284510.2:c.296_306dup	NP_001271439.1:p.Ala103ArgfsTer6
NM_177550.5:c.425_435dup MANE Select	NP_808218.1:p.Ala146ArgfsTer6