Canonical Allele Identifier: CA2739277899

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 2844679
• ClinVar RCV Id: RCV003742098

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184292del , CM000669.2:g.96184292del	GRCh38
NC_000007.13:g.95813604del , CM000669.1:g.95813604del	GRCh37
NC_000007.12:g.95651540del	NCBI36
NG_012247.1:g.142858del
NG_012247.2:g.142858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1164del MANE Select	ENSP00000265631.6:p.Phe388LeufsTer20
ENST00000265631.9:c.1164del	ENSP00000265631.5:p.Phe388LeufsTer20
ENST00000416240.6:c.1167del	ENSP00000400101.2:p.Phe389LeufsTer20
ENST00000484495.5:n.317del
ENST00000490072.5:n.231del
ENST00000492869.1:n.285del
NM_001160210.1:c.1167del	NP_001153682.1:p.Phe389LeufsTer20
NM_014251.2:c.1164del	NP_055066.1:p.Phe388LeufsTer20
NR_027662.1:n.1239del
XM_006715831.2:c.1197del	XP_006715894.1:p.Phe399LeufsTer20
XM_011515727.1:c.1197del	XP_011514029.1:p.Phe399LeufsTer20
XM_011515728.1:c.312del	XP_011514030.1:p.Phe104LeufsTer20
XM_006715831.4:c.1197del	XP_006715894.1:p.Phe399LeufsTer20
XM_011515727.3:c.1197del	XP_011514029.1:p.Phe399LeufsTer20
XM_017011663.1:c.1155del	XP_016867152.1:p.Phe385LeufsTer20
XM_017011664.2:c.312del	XP_016867153.1:p.Phe104LeufsTer20
XM_017011665.1:c.312del	XP_016867154.1:p.Phe104LeufsTer20
XR_001744525.2:n.1335del
XR_002956405.1:n.1968del
NM_014251.3:c.1164del MANE Select	NP_055066.1:p.Phe388LeufsTer20
NR_027662.2:n.1190del
NM_001160210.2:c.1167del	NP_001153682.1:p.Phe389LeufsTer20