Canonical Allele Identifier: CA2576144199

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6695677-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695677_6695678insCT , CM000679.2:g.6695677_6695678insCT	GRCh38
NC_000017.10:g.6598996_6598997insCT , CM000679.1:g.6598996_6598997insCT	GRCh37
NC_000017.9:g.6539720_6539721insCT	NCBI36
NG_034220.1:g.22744_22745insAG , LRG_1020:g.22744_22745insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1055+48_1055+49insAG MANE Select	ENSP00000406220.2:n.1055+48_1055+49insAG
ENST00000293800.10:c.1004+48_1004+49insAG	ENSP00000293800.6:n.1004+48_1004+49insAG
ENST00000381074.8:c.926+48_926+49insAG	ENSP00000370464.4:n.926+48_926+49insAG
ENST00000433363.6:c.1055+48_1055+49insAG	ENSP00000406220.2:n.1055+48_1055+49insAG
ENST00000572727.1:n.164+48_164+49insAG
ENST00000573648.5:c.1055+48_1055+49insAG	ENSP00000459372.1:n.1055+48_1055+49insAG
ENST00000574824.5:n.2236_2237insAG
NM_001143838.2:c.1055+48_1055+49insAG	NP_001137310.1:n.1055+48_1055+49insAG
NM_001284509.1:c.1004+48_1004+49insAG	NP_001271438.1:n.1004+48_1004+49insAG
NM_001284510.1:c.926+48_926+49insAG	NP_001271439.1:n.926+48_926+49insAG
NM_177550.4:c.1055+48_1055+49insAG , LRG_1020t1:c.1055+48_1055+49insAG	NP_808218.1:n.1055+48_1055+49insAG
XM_006721504.2:c.944+48_944+49insAG	XP_006721567.1:n.944+48_944+49insAG
XM_011523795.1:c.1055+48_1055+49insAG	XP_011522097.1:n.1055+48_1055+49insAG
XM_011523795.3:c.1055+48_1055+49insAG	XP_011522097.1:n.1055+48_1055+49insAG
NM_001143838.3:c.1055+48_1055+49insAG	NP_001137310.1:n.1055+48_1055+49insAG
NM_001284509.2:c.1004+48_1004+49insAG	NP_001271438.1:n.1004+48_1004+49insAG
NM_001284510.2:c.926+48_926+49insAG	NP_001271439.1:n.926+48_926+49insAG
NM_177550.5:c.1055+48_1055+49insAG MANE Select	NP_808218.1:n.1055+48_1055+49insAG