Canonical Allele Identifier: CA253673
Gene: SLC25A13 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 225472

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189373_96189376del , CM000669.2:g.96189373_96189376del GRCh38
NC_000007.13:g.95818685_95818688del , CM000669.1:g.95818685_95818688del GRCh37
NC_000007.12:g.95656621_95656624del NCBI36
NG_012247.1:g.137773_137776del
NG_012247.2:g.137773_137776del

Transcript Alleles

HGVS Amino-acid change
NM_001160210.1:c.852_855del VV NP_001153682.1:p.Met285ProfsTer2
NM_014251.2:c.852_855del VV NP_055066.1:p.Met285ProfsTer2
NR_027662.1:n.927_930del
XM_006715831.2:c.885_888del XP_006715894.1:p.Met296ProfsTer2
XM_011515727.1:c.885_888del XP_011514029.1:p.Met296ProfsTer2
XM_011515728.1:c.-1_3del
XM_006715831.4:c.885_888del XP_006715894.1:p.Met296ProfsTer2
XM_011515727.3:c.885_888del XP_011514029.1:p.Met296ProfsTer2
XM_017011663.1:c.843_846del XP_016867152.1:p.Met282ProfsTer2
XM_017011664.2:c.-1_3del
XM_017011665.1:c.-1_3del
XR_001744525.2:n.1023_1026del
XR_002956405.1:n.1165_1168del
ENST00000265631.9:c.852_855del ENSP00000265631.5:p.Met285ProfsTer2
ENST00000416240.6:c.852_855del ENSP00000400101.2:p.Met285ProfsTer2
ENST00000484495.5:n.5_8del