Canonical Allele Identifier: CA2590115242

Gene: SLC13A5

Linked Data

• gnomAD v3: 17-6696050-GCTGTCCTCGCCTGCT-G
• gnomAD v4: 17-6696050-GCTGTCCTCGCCTGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6696051_6696065del , CM000679.2:g.6696051_6696065del	GRCh38
NC_000017.10:g.6599370_6599384del , CM000679.1:g.6599370_6599384del	GRCh37
NC_000017.9:g.6540094_6540108del	NCBI36
NG_034220.1:g.22357_22371del , LRG_1020:g.22357_22371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.840-124_840-110del MANE Select	ENSP00000406220.2:n.840-124_840-110del
ENST00000293800.10:c.789-124_789-110del	ENSP00000293800.6:n.789-124_789-110del
ENST00000381074.8:c.711-124_711-110del	ENSP00000370464.4:n.711-124_711-110del
ENST00000433363.6:c.840-124_840-110del	ENSP00000406220.2:n.840-124_840-110del
ENST00000572094.1:c.*590-124_*590-110del	ENSP00000461495.1:n.*590-124_*590-110del
ENST00000573648.5:c.840-124_840-110del	ENSP00000459372.1:n.840-124_840-110del
ENST00000574824.5:n.1973-124_1973-110del
NM_001143838.2:c.840-124_840-110del	NP_001137310.1:n.840-124_840-110del
NM_001284509.1:c.789-124_789-110del	NP_001271438.1:n.789-124_789-110del
NM_001284510.1:c.711-124_711-110del	NP_001271439.1:n.711-124_711-110del
NM_177550.4:c.840-124_840-110del , LRG_1020t1:c.840-124_840-110del	NP_808218.1:n.840-124_840-110del
XM_006721504.2:c.729-124_729-110del	XP_006721567.1:n.729-124_729-110del
XM_011523795.1:c.840-124_840-110del	XP_011522097.1:n.840-124_840-110del
XM_011523795.3:c.840-124_840-110del	XP_011522097.1:n.840-124_840-110del
NM_001143838.3:c.840-124_840-110del	NP_001137310.1:n.840-124_840-110del
NM_001284509.2:c.789-124_789-110del	NP_001271438.1:n.789-124_789-110del
NM_001284510.2:c.711-124_711-110del	NP_001271439.1:n.711-124_711-110del
NM_177550.5:c.840-124_840-110del MANE Select	NP_808218.1:n.840-124_840-110del