Canonical Allele Identifier: CA2816529194

Gene: SLC13A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46613609_46613610del , CM000682.2:g.46613609_46613610del	GRCh38
NC_000020.10:g.45242248_45242249del , CM000682.1:g.45242248_45242249del	GRCh37
NC_000020.9:g.44675655_44675656del	NCBI36
NG_047182.1:g.75876_75877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279027.9:c.227_228del MANE Select	ENSP00000279027.4:p.Leu76SerfsTer28
ENST00000279027.8:c.227_228del	ENSP00000279027.4:p.Leu76SerfsTer28
ENST00000290317.9:c.86_87del	ENSP00000290317.5:p.Leu29SerfsTer28
ENST00000372121.5:c.86_87del	ENSP00000361193.2:p.Leu29SerfsTer28
ENST00000413164.6:c.227_228del	ENSP00000415852.2:p.Leu76SerfsTer28
ENST00000417157.2:c.86_87del	ENSP00000397955.2:p.Leu29SerfsTer28
ENST00000420568.5:c.116_117del	ENSP00000395095.1:p.Leu39SerfsTer28
ENST00000468915.5:c.86_87del	ENSP00000417784.1:p.Leu29SerfsTer28
ENST00000472148.5:c.86_87del	ENSP00000420177.1:p.Leu29SerfsTer28
ENST00000495082.5:c.86_87del	ENSP00000419621.1:p.Leu29SerfsTer28
NM_001011554.2:c.86_87del	NP_001011554.1:p.Leu29SerfsTer28
NM_001193339.1:c.227_228del	NP_001180268.1:p.Leu76SerfsTer28
NM_001193340.1:c.86_87del	NP_001180269.1:p.Leu29SerfsTer28
NM_001193342.1:c.-10-58_-10-57del	NP_001180271.1:n.-10-58_-10-57del
NM_022829.5:c.227_228del	NP_073740.2:p.Leu76SerfsTer28
NM_022829.6:c.227_228del MANE Select	NP_073740.2:p.Leu76SerfsTer28
NM_001011554.3:c.86_87del	NP_001011554.1:p.Leu29SerfsTer28
NM_001193339.2:c.227_228del	NP_001180268.1:p.Leu76SerfsTer28
NM_001193340.2:c.86_87del	NP_001180269.1:p.Leu29SerfsTer28
NM_001193342.2:c.-10-58_-10-57del	NP_001180271.1:n.-10-58_-10-57del