Canonical Allele Identifier: CA2245487680
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6696040_6696042delinsGAC , CM000679.2:g.6696040_6696042delinsGAC GRCh38
NC_000017.10:g.6599359_6599361delinsGAC , CM000679.1:g.6599359_6599361delinsGAC GRCh37
NC_000017.9:g.6540083_6540085delinsGAC NCBI36
NG_034220.1:g.22380_22382delinsGTC , LRG_1020:g.22380_22382delinsGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.840-101_840-99delinsGTC MANE Select ENSP00000406220.2:n.840-101_840-99delinsGTC
ENST00000293800.10:c.789-101_789-99delinsGTC ENSP00000293800.6:n.789-101_789-99delinsGTC
ENST00000381074.8:c.711-101_711-99delinsGTC ENSP00000370464.4:n.711-101_711-99delinsGTC
ENST00000433363.6:c.840-101_840-99delinsGTC ENSP00000406220.2:n.840-101_840-99delinsGTC
ENST00000572094.1:c.*590-101_*590-99delinsGTC ENSP00000461495.1:n.*590-101_*590-99delinsGTC
ENST00000573648.5:c.840-101_840-99delinsGTC ENSP00000459372.1:n.840-101_840-99delinsGTC
ENST00000574824.5:n.1973-101_1973-99delinsGTC
NM_001143838.2:c.840-101_840-99delinsGTC NP_001137310.1:n.840-101_840-99delinsGTC
NM_001284509.1:c.789-101_789-99delinsGTC NP_001271438.1:n.789-101_789-99delinsGTC
NM_001284510.1:c.711-101_711-99delinsGTC NP_001271439.1:n.711-101_711-99delinsGTC
NM_177550.4:c.840-101_840-99delinsGTC , LRG_1020t1:c.840-101_840-99delinsGTC NP_808218.1:n.840-101_840-99delinsGTC
XM_006721504.2:c.729-101_729-99delinsGTC XP_006721567.1:n.729-101_729-99delinsGTC
XM_011523795.1:c.840-101_840-99delinsGTC XP_011522097.1:n.840-101_840-99delinsGTC
XM_011523795.3:c.840-101_840-99delinsGTC XP_011522097.1:n.840-101_840-99delinsGTC
NM_001143838.3:c.840-101_840-99delinsGTC NP_001137310.1:n.840-101_840-99delinsGTC
NM_001284509.2:c.789-101_789-99delinsGTC NP_001271438.1:n.789-101_789-99delinsGTC
NM_001284510.2:c.711-101_711-99delinsGTC NP_001271439.1:n.711-101_711-99delinsGTC
NM_177550.5:c.840-101_840-99delinsGTC MANE Select NP_808218.1:n.840-101_840-99delinsGTC