Canonical Allele Identifier: CA981132723

Gene: SLC13A5

Linked Data

• gnomAD v3: 17-6696073-CTG-C
• gnomAD v4: 17-6696073-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6696074_6696075del , CM000679.2:g.6696074_6696075del	GRCh38
NC_000017.10:g.6599393_6599394del , CM000679.1:g.6599393_6599394del	GRCh37
NC_000017.9:g.6540117_6540118del	NCBI36
NG_034220.1:g.22347_22348del , LRG_1020:g.22347_22348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.840-134_840-133del MANE Select	ENSP00000406220.2:n.840-134_840-133del
ENST00000293800.10:c.789-134_789-133del	ENSP00000293800.6:n.789-134_789-133del
ENST00000381074.8:c.711-134_711-133del	ENSP00000370464.4:n.711-134_711-133del
ENST00000433363.6:c.840-134_840-133del	ENSP00000406220.2:n.840-134_840-133del
ENST00000572094.1:c.*590-134_*590-133del	ENSP00000461495.1:n.*590-134_*590-133del
ENST00000573648.5:c.840-134_840-133del	ENSP00000459372.1:n.840-134_840-133del
ENST00000574824.5:n.1973-134_1973-133del
NM_001143838.2:c.840-134_840-133del	NP_001137310.1:n.840-134_840-133del
NM_001284509.1:c.789-134_789-133del	NP_001271438.1:n.789-134_789-133del
NM_001284510.1:c.711-134_711-133del	NP_001271439.1:n.711-134_711-133del
NM_177550.4:c.840-134_840-133del , LRG_1020t1:c.840-134_840-133del	NP_808218.1:n.840-134_840-133del
XM_006721504.2:c.729-134_729-133del	XP_006721567.1:n.729-134_729-133del
XM_011523795.1:c.840-134_840-133del	XP_011522097.1:n.840-134_840-133del
XM_011523795.3:c.840-134_840-133del	XP_011522097.1:n.840-134_840-133del
NM_001143838.3:c.840-134_840-133del	NP_001137310.1:n.840-134_840-133del
NM_001284509.2:c.789-134_789-133del	NP_001271438.1:n.789-134_789-133del
NM_001284510.2:c.711-134_711-133del	NP_001271439.1:n.711-134_711-133del
NM_177550.5:c.840-134_840-133del MANE Select	NP_808218.1:n.840-134_840-133del