Canonical Allele Identifier: CA2580077908
Gene: SLC25A13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2089217
ClinVar RCV Id: RCV003012037

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189334_96189347del , CM000669.2:g.96189334_96189347del GRCh38
NC_000007.13:g.95818646_95818659del , CM000669.1:g.95818646_95818659del GRCh37
NC_000007.12:g.95656582_95656595del NCBI36
NG_012247.1:g.137802_137815del
NG_012247.2:g.137802_137815del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.881_894del MANE Select ENSP00000265631.6:p.Ala294GlyfsTer6
ENST00000265631.9:c.881_894del ENSP00000265631.5:p.Ala294GlyfsTer6
ENST00000416240.6:c.881_894del ENSP00000400101.2:p.Ala294GlyfsTer6
ENST00000484495.5:n.34_47del
NM_001160210.1:c.881_894del NP_001153682.1:p.Ala294GlyfsTer6
NM_014251.2:c.881_894del NP_055066.1:p.Ala294GlyfsTer6
NR_027662.1:n.956_969del
XM_006715831.2:c.914_927del XP_006715894.1:p.Ala305GlyfsTer6
XM_011515727.1:c.914_927del XP_011514029.1:p.Ala305GlyfsTer6
XM_011515728.1:c.29_42del XP_011514030.1:p.Ala10GlyfsTer6
XM_006715831.4:c.914_927del XP_006715894.1:p.Ala305GlyfsTer6
XM_011515727.3:c.914_927del XP_011514029.1:p.Ala305GlyfsTer6
XM_017011663.1:c.872_885del XP_016867152.1:p.Ala291GlyfsTer6
XM_017011664.2:c.29_42del XP_016867153.1:p.Ala10GlyfsTer6
XM_017011665.1:c.29_42del XP_016867154.1:p.Ala10GlyfsTer6
XR_001744525.2:n.1052_1065del
XR_002956405.1:n.1194_1207del
NM_014251.3:c.881_894del MANE Select NP_055066.1:p.Ala294GlyfsTer6
NR_027662.2:n.907_920del
NM_001160210.2:c.881_894del NP_001153682.1:p.Ala294GlyfsTer6