Canonical Allele Identifier: CA2245458755

Gene: SLC13A5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6702948_6702959delinsGAAGGTGCGACC , CM000679.2:g.6702948_6702959delinsGAAGGTGCGACC	GRCh38
NC_000017.10:g.6606267_6606278delinsGAAGGTGCGACC , CM000679.1:g.6606267_6606278delinsGAAGGTGCGACC	GRCh37
NC_000017.9:g.6546991_6547002delinsGAAGGTGCGACC	NCBI36
NG_034220.1:g.15463_15474delinsGGTCGCACCTTC , LRG_1020:g.15463_15474delinsGGTCGCACCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.716+11_716+22delinsGGTCGCACCTTC MANE Select	ENSP00000406220.2:n.716+11_716+22delinsGGTCGCACCTTC
ENST00000293800.10:c.665+11_665+22delinsGGTCGCACCTTC	ENSP00000293800.6:n.665+11_665+22delinsGGTCGCACCTTC
ENST00000381074.8:c.587+11_587+22delinsGGTCGCACCTTC	ENSP00000370464.4:n.587+11_587+22delinsGGTCGCACCTTC
ENST00000433363.6:c.716+11_716+22delinsGGTCGCACCTTC	ENSP00000406220.2:n.716+11_716+22delinsGGTCGCACCTTC
ENST00000572094.1:c.*466+11_*466+22delinsGGTCGCACCTTC	ENSP00000461495.1:n.*466+11_*466+22delinsGGTCGCACCTTC
ENST00000573648.5:c.716+11_716+22delinsGGTCGCACCTTC	ENSP00000459372.1:n.716+11_716+22delinsGGTCGCACCTTC
ENST00000574824.5:n.1849+11_1849+22delinsGGTCGCACCTTC
NM_001143838.2:c.716+11_716+22delinsGGTCGCACCTTC	NP_001137310.1:n.716+11_716+22delinsGGTCGCACCTTC
NM_001284509.1:c.665+11_665+22delinsGGTCGCACCTTC	NP_001271438.1:n.665+11_665+22delinsGGTCGCACCTTC
NM_001284510.1:c.587+11_587+22delinsGGTCGCACCTTC	NP_001271439.1:n.587+11_587+22delinsGGTCGCACCTTC
NM_177550.4:c.716+11_716+22delinsGGTCGCACCTTC , LRG_1020t1:c.716+11_716+22delinsGGTCGCACCTTC	NP_808218.1:n.716+11_716+22delinsGGTCGCACCTTC
XM_006721504.2:c.605+11_605+22delinsGGTCGCACCTTC	XP_006721567.1:n.605+11_605+22delinsGGTCGCACCTTC
XM_011523795.1:c.716+11_716+22delinsGGTCGCACCTTC	XP_011522097.1:n.716+11_716+22delinsGGTCGCACCTTC
XM_011523795.3:c.716+11_716+22delinsGGTCGCACCTTC	XP_011522097.1:n.716+11_716+22delinsGGTCGCACCTTC
NM_001143838.3:c.716+11_716+22delinsGGTCGCACCTTC	NP_001137310.1:n.716+11_716+22delinsGGTCGCACCTTC
NM_001284509.2:c.665+11_665+22delinsGGTCGCACCTTC	NP_001271438.1:n.665+11_665+22delinsGGTCGCACCTTC
NM_001284510.2:c.587+11_587+22delinsGGTCGCACCTTC	NP_001271439.1:n.587+11_587+22delinsGGTCGCACCTTC
NM_177550.5:c.716+11_716+22delinsGGTCGCACCTTC MANE Select	NP_808218.1:n.716+11_716+22delinsGGTCGCACCTTC