Canonical Allele Identifier: CA2576144275

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704046_6704047insTG , CM000679.2:g.6704046_6704047insTG	GRCh38
NC_000017.10:g.6607365_6607366insTG , CM000679.1:g.6607365_6607366insTG	GRCh37
NC_000017.9:g.6548089_6548090insTG	NCBI36
NG_034220.1:g.14375_14376insCA , LRG_1020:g.14375_14376insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.378_379insCA MANE Select	ENSP00000406220.2:p.Gly127GlnfsTer22
ENST00000293800.10:c.369-42_369-41insCA	ENSP00000293800.6:n.369-42_369-41insCA
ENST00000381074.8:c.249_250insCA	ENSP00000370464.4:p.Gly84GlnfsTer22
ENST00000433363.6:c.378_379insCA	ENSP00000406220.2:p.Gly127GlnfsTer22
ENST00000572094.1:c.*128_*129insCA	ENSP00000461495.1:n.*128_*129insCA
ENST00000572352.5:c.267_268insCA	ENSP00000461622.1:p.Gly90GlnfsTer22
ENST00000573648.5:c.378_379insCA	ENSP00000459372.1:p.Gly127GlnfsTer22
ENST00000574824.5:n.1511_1512insCA
ENST00000575230.1:c.*224_*225insCA	ENSP00000460903.1:n.*224_*225insCA
ENST00000576323.1:n.408_409insCA
NM_001143838.2:c.378_379insCA	NP_001137310.1:p.Gly127GlnfsTer22
NM_001284509.1:c.369-42_369-41insCA	NP_001271438.1:n.369-42_369-41insCA
NM_001284510.1:c.249_250insCA	NP_001271439.1:p.Gly84GlnfsTer22
NM_177550.4:c.378_379insCA , LRG_1020t1:c.378_379insCA	NP_808218.1:p.Gly127GlnfsTer22
XM_006721504.2:c.267_268insCA	XP_006721567.1:p.Gly90GlnfsTer22
XM_011523795.1:c.378_379insCA	XP_011522097.1:p.Gly127GlnfsTer22
XM_011523795.3:c.378_379insCA	XP_011522097.1:p.Gly127GlnfsTer22
NM_001143838.3:c.378_379insCA	NP_001137310.1:p.Gly127GlnfsTer22
NM_001284509.2:c.369-42_369-41insCA	NP_001271438.1:n.369-42_369-41insCA
NM_001284510.2:c.249_250insCA	NP_001271439.1:p.Gly84GlnfsTer22
NM_177550.5:c.378_379insCA MANE Select	NP_808218.1:p.Gly127GlnfsTer22