Canonical Allele Identifier: CA2635728295

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6695864-T-TACTCCTCCTGCAGCACCTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695866_6695885dup , CM000679.2:g.6695866_6695885dup	GRCh38
NC_000017.10:g.6599185_6599204dup , CM000679.1:g.6599185_6599204dup	GRCh37
NC_000017.9:g.6539909_6539928dup	NCBI36
NG_034220.1:g.22538_22557dup , LRG_1020:g.22538_22557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.897_916dup MANE Select	ENSP00000406220.2:p.Tyr306SerfsTer22
ENST00000293800.10:c.846_865dup	ENSP00000293800.6:p.Tyr289SerfsTer22
ENST00000381074.8:c.768_787dup	ENSP00000370464.4:p.Tyr263SerfsTer22
ENST00000433363.6:c.897_916dup	ENSP00000406220.2:p.Tyr306SerfsTer22
ENST00000572094.1:c.*647_*666dup	ENSP00000461495.1:n.*647_*666dup
ENST00000572727.1:n.6_25dup
ENST00000573648.5:c.897_916dup	ENSP00000459372.1:p.Tyr306SerfsTer22
ENST00000574824.5:n.2030_2049dup
NM_001143838.2:c.897_916dup	NP_001137310.1:p.Tyr306SerfsTer22
NM_001284509.1:c.846_865dup	NP_001271438.1:p.Tyr289SerfsTer22
NM_001284510.1:c.768_787dup	NP_001271439.1:p.Tyr263SerfsTer22
NM_177550.4:c.897_916dup , LRG_1020t1:c.897_916dup	NP_808218.1:p.Tyr306SerfsTer22
XM_006721504.2:c.786_805dup	XP_006721567.1:p.Tyr269SerfsTer22
XM_011523795.1:c.897_916dup	XP_011522097.1:p.Tyr306SerfsTer22
XM_011523795.3:c.897_916dup	XP_011522097.1:p.Tyr306SerfsTer22
NM_001143838.3:c.897_916dup	NP_001137310.1:p.Tyr306SerfsTer22
NM_001284509.2:c.846_865dup	NP_001271438.1:p.Tyr289SerfsTer22
NM_001284510.2:c.768_787dup	NP_001271439.1:p.Tyr263SerfsTer22
NM_177550.5:c.897_916dup MANE Select	NP_808218.1:p.Tyr306SerfsTer22