Canonical Allele Identifier: CA2245487662
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6696001_6696002delinsGA , CM000679.2:g.6696001_6696002delinsGA GRCh38
NC_000017.10:g.6599320_6599321delinsGA , CM000679.1:g.6599320_6599321delinsGA GRCh37
NC_000017.9:g.6540044_6540045delinsGA NCBI36
NG_034220.1:g.22420_22421delinsTC , LRG_1020:g.22420_22421delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.840-61_840-60delinsTC MANE Select ENSP00000406220.2:n.840-61_840-60delinsTC
ENST00000293800.10:c.789-61_789-60delinsTC ENSP00000293800.6:n.789-61_789-60delinsTC
ENST00000381074.8:c.711-61_711-60delinsTC ENSP00000370464.4:n.711-61_711-60delinsTC
ENST00000433363.6:c.840-61_840-60delinsTC ENSP00000406220.2:n.840-61_840-60delinsTC
ENST00000572094.1:c.*590-61_*590-60delinsTC ENSP00000461495.1:n.*590-61_*590-60delinsTC
ENST00000573648.5:c.840-61_840-60delinsTC ENSP00000459372.1:n.840-61_840-60delinsTC
ENST00000574824.5:n.1973-61_1973-60delinsTC
NM_001143838.2:c.840-61_840-60delinsTC NP_001137310.1:n.840-61_840-60delinsTC
NM_001284509.1:c.789-61_789-60delinsTC NP_001271438.1:n.789-61_789-60delinsTC
NM_001284510.1:c.711-61_711-60delinsTC NP_001271439.1:n.711-61_711-60delinsTC
NM_177550.4:c.840-61_840-60delinsTC , LRG_1020t1:c.840-61_840-60delinsTC NP_808218.1:n.840-61_840-60delinsTC
XM_006721504.2:c.729-61_729-60delinsTC XP_006721567.1:n.729-61_729-60delinsTC
XM_011523795.1:c.840-61_840-60delinsTC XP_011522097.1:n.840-61_840-60delinsTC
XM_011523795.3:c.840-61_840-60delinsTC XP_011522097.1:n.840-61_840-60delinsTC
NM_001143838.3:c.840-61_840-60delinsTC NP_001137310.1:n.840-61_840-60delinsTC
NM_001284509.2:c.789-61_789-60delinsTC NP_001271438.1:n.789-61_789-60delinsTC
NM_001284510.2:c.711-61_711-60delinsTC NP_001271439.1:n.711-61_711-60delinsTC
NM_177550.5:c.840-61_840-60delinsTC MANE Select NP_808218.1:n.840-61_840-60delinsTC