Canonical Allele Identifier: CA2808352056

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695927_6695928insCAAACACACCCAACAC , CM000679.2:g.6695927_6695928insCAAACACACCCAACAC	GRCh38
NC_000017.10:g.6599246_6599247insCAAACACACCCAACAC , CM000679.1:g.6599246_6599247insCAAACACACCCAACAC	GRCh37
NC_000017.9:g.6539970_6539971insCAAACACACCCAACAC	NCBI36
NG_034220.1:g.22495_22496insTGTTGGGTGTGTTTGG , LRG_1020:g.22495_22496insTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.854_855insTGTTGGGTGTGTTTGG MANE Select	ENSP00000406220.2:p.Trp285CysfsTer?
ENST00000293800.10:c.803_804insTGTTGGGTGTGTTTGG	ENSP00000293800.6:p.Trp268CysfsTer?
ENST00000381074.8:c.725_726insTGTTGGGTGTGTTTGG	ENSP00000370464.4:p.Trp242CysfsTer?
ENST00000433363.6:c.854_855insTGTTGGGTGTGTTTGG	ENSP00000406220.2:p.Trp285CysfsTer?
ENST00000572094.1:c.*604_*605insTGTTGGGTGTGTTTGG	ENSP00000461495.1:n.*604_*605insTGTTGGGTGTGTTTGG
ENST00000573648.5:c.854_855insTGTTGGGTGTGTTTGG	ENSP00000459372.1:p.Trp285CysfsTer?
ENST00000574824.5:n.1987_1988insTGTTGGGTGTGTTTGG
NM_001143838.2:c.854_855insTGTTGGGTGTGTTTGG	NP_001137310.1:p.Trp285CysfsTer?
NM_001284509.1:c.803_804insTGTTGGGTGTGTTTGG	NP_001271438.1:p.Trp268CysfsTer?
NM_001284510.1:c.725_726insTGTTGGGTGTGTTTGG	NP_001271439.1:p.Trp242CysfsTer?
NM_177550.4:c.854_855insTGTTGGGTGTGTTTGG , LRG_1020t1:c.854_855insTGTTGGGTGTGTTTGG	NP_808218.1:p.Trp285CysfsTer?
XM_006721504.2:c.743_744insTGTTGGGTGTGTTTGG	XP_006721567.1:p.Trp248CysfsTer?
XM_011523795.1:c.854_855insTGTTGGGTGTGTTTGG	XP_011522097.1:p.Trp285CysfsTer?
XM_011523795.3:c.854_855insTGTTGGGTGTGTTTGG	XP_011522097.1:p.Trp285CysfsTer?
NM_001143838.3:c.854_855insTGTTGGGTGTGTTTGG	NP_001137310.1:p.Trp285CysfsTer?
NM_001284509.2:c.803_804insTGTTGGGTGTGTTTGG	NP_001271438.1:p.Trp268CysfsTer?
NM_001284510.2:c.725_726insTGTTGGGTGTGTTTGG	NP_001271439.1:p.Trp242CysfsTer?
NM_177550.5:c.854_855insTGTTGGGTGTGTTTGG MANE Select	NP_808218.1:p.Trp285CysfsTer?