Canonical Allele Identifier: CA1727580288
Gene: SLC25A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96189373_96189376dup , CM000669.2:g.96189373_96189376dup GRCh38
NC_000007.13:g.95818685_95818688dup , CM000669.1:g.95818685_95818688dup GRCh37
NC_000007.12:g.95656621_95656624dup NCBI36
NG_012247.1:g.137773_137776dup
NG_012247.2:g.137773_137776dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.852_855dup MANE Select ENSP00000265631.6:p.Thr286TyrfsTer7
ENST00000265631.9:c.852_855dup ENSP00000265631.5:p.Thr286TyrfsTer7
ENST00000416240.6:c.852_855dup ENSP00000400101.2:p.Thr286TyrfsTer7
ENST00000484495.5:n.5_8dup
NM_001160210.1:c.852_855dup NP_001153682.1:p.Thr286TyrfsTer7
NM_014251.2:c.852_855dup NP_055066.1:p.Thr286TyrfsTer7
NR_027662.1:n.927_930dup
XM_006715831.2:c.885_888dup XP_006715894.1:p.Thr297TyrfsTer7
XM_011515727.1:c.885_888dup XP_011514029.1:p.Thr297TyrfsTer7
XM_011515728.1:c.-1_3dup XP_011514030.1:p.Thr2TyrfsTer7
XM_006715831.4:c.885_888dup XP_006715894.1:p.Thr297TyrfsTer7
XM_011515727.3:c.885_888dup XP_011514029.1:p.Thr297TyrfsTer7
XM_017011663.1:c.843_846dup XP_016867152.1:p.Thr283TyrfsTer7
XM_017011664.2:c.-1_3dup XP_016867153.1:p.Thr2TyrfsTer7
XM_017011665.1:c.-1_3dup XP_016867154.1:p.Thr2TyrfsTer7
XR_001744525.2:n.1023_1026dup
XR_002956405.1:n.1165_1168dup
NM_014251.3:c.852_855dup MANE Select NP_055066.1:p.Thr286TyrfsTer7
NR_027662.2:n.878_881dup
NM_001160210.2:c.852_855dup NP_001153682.1:p.Thr286TyrfsTer7