Canonical Allele Identifier: CA4352848

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 1379532
• ClinVar RCV Id: RCV001883822
• dbSNP Id: rs750225643
• ExAC: 7:95751290 TA / T
• gnomAD v2: 7-95751290-TA-T
• gnomAD v3: 7-96121978-TA-T
• gnomAD v4: 7-96121978-TA-T
• MyVariant Identifiers: chr7:g.95751291del (hg19) ; chr7:g.96121979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121981del , CM000669.2:g.96121981del	GRCh38
NC_000007.13:g.95751293del , CM000669.1:g.95751293del	GRCh37
NC_000007.12:g.95589229del	NCBI36
NG_012247.1:g.205169del
NG_012247.2:g.205169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1610del MANE Select	ENSP00000265631.6:p.Leu537Ter
ENST00000265631.9:c.1610del	ENSP00000265631.5:p.Leu537Ter
ENST00000416240.6:c.1613del	ENSP00000400101.2:p.Leu538Ter
ENST00000494085.1:n.20del
NM_001160210.1:c.1613del	NP_001153682.1:p.Leu538Ter
NM_014251.2:c.1610del	NP_055066.1:p.Leu537Ter
NR_027662.1:n.1685del
XM_006715831.2:c.1643del	XP_006715894.1:p.Leu548Ter
XM_011515728.1:c.758del	XP_011514030.1:p.Leu253Ter
XM_006715831.4:c.1643del	XP_006715894.1:p.Leu548Ter
XM_017011663.1:c.1601del	XP_016867152.1:p.Leu534Ter
XM_017011664.2:c.758del	XP_016867153.1:p.Leu253Ter
XM_017011665.1:c.758del	XP_016867154.1:p.Leu253Ter
XR_001744525.2:n.1856del
XR_002956405.1:n.2414del
NM_014251.3:c.1610del MANE Select	NP_055066.1:p.Leu537Ter
NR_027662.2:n.1636del
NM_001160210.2:c.1613del	NP_001153682.1:p.Leu538Ter