Canonical Allele Identifier: CA2245487677

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6696034_6696036delinsCAA , CM000679.2:g.6696034_6696036delinsCAA	GRCh38
NC_000017.10:g.6599353_6599355delinsCAA , CM000679.1:g.6599353_6599355delinsCAA	GRCh37
NC_000017.9:g.6540077_6540079delinsCAA	NCBI36
NG_034220.1:g.22386_22388delinsTTG , LRG_1020:g.22386_22388delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.840-95_840-93delinsTTG MANE Select	ENSP00000406220.2:n.840-95_840-93delinsTTG
ENST00000293800.10:c.789-95_789-93delinsTTG	ENSP00000293800.6:n.789-95_789-93delinsTTG
ENST00000381074.8:c.711-95_711-93delinsTTG	ENSP00000370464.4:n.711-95_711-93delinsTTG
ENST00000433363.6:c.840-95_840-93delinsTTG	ENSP00000406220.2:n.840-95_840-93delinsTTG
ENST00000572094.1:c.*590-95_*590-93delinsTTG	ENSP00000461495.1:n.*590-95_*590-93delinsTTG
ENST00000573648.5:c.840-95_840-93delinsTTG	ENSP00000459372.1:n.840-95_840-93delinsTTG
ENST00000574824.5:n.1973-95_1973-93delinsTTG
NM_001143838.2:c.840-95_840-93delinsTTG	NP_001137310.1:n.840-95_840-93delinsTTG
NM_001284509.1:c.789-95_789-93delinsTTG	NP_001271438.1:n.789-95_789-93delinsTTG
NM_001284510.1:c.711-95_711-93delinsTTG	NP_001271439.1:n.711-95_711-93delinsTTG
NM_177550.4:c.840-95_840-93delinsTTG , LRG_1020t1:c.840-95_840-93delinsTTG	NP_808218.1:n.840-95_840-93delinsTTG
XM_006721504.2:c.729-95_729-93delinsTTG	XP_006721567.1:n.729-95_729-93delinsTTG
XM_011523795.1:c.840-95_840-93delinsTTG	XP_011522097.1:n.840-95_840-93delinsTTG
XM_011523795.3:c.840-95_840-93delinsTTG	XP_011522097.1:n.840-95_840-93delinsTTG
NM_001143838.3:c.840-95_840-93delinsTTG	NP_001137310.1:n.840-95_840-93delinsTTG
NM_001284509.2:c.789-95_789-93delinsTTG	NP_001271438.1:n.789-95_789-93delinsTTG
NM_001284510.2:c.711-95_711-93delinsTTG	NP_001271439.1:n.711-95_711-93delinsTTG
NM_177550.5:c.840-95_840-93delinsTTG MANE Select	NP_808218.1:n.840-95_840-93delinsTTG