Canonical Allele Identifier: CA340497

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 6003
• ClinVar RCV Id: RCV000006371 ; RCV000726889 ; RCV000822371 ; RCV001004526 ; RCV002259302
• dbSNP Id: rs80338725
• ExAC: 7:95751240 G / GCCCGGGCAGCCACCTGTAATCTC
• gnomAD v2: 7-95751240-G-GCCCGGGCAGCCACCTGTAATCTC
• gnomAD v3: 7-96121928-G-GCCCGGGCAGCCACCTGTAATCTC
• gnomAD v4: 7-96121928-G-GCCCGGGCAGCCACCTGTAATCTC
• MyVariant Identifiers: chr7:g.95751241_95751263dup23 (hg19) ; chr7:g.95751240_95751241insCCCGGGCAGCCACCTGTAATCTC (hg19) ; chr7:g.96121929_96121951dup23 (hg38) ; chr7:g.96121928_96121929insCCCGGGCAGCCACCTGTAATCTC (hg38)
• PubMed: PMID:10369257 ; PMID:20301360

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121929_96121951dup , CM000669.2:g.96121929_96121951dup	GRCh38
NC_000007.13:g.95751241_95751263dup , CM000669.1:g.95751241_95751263dup	GRCh37
NC_000007.12:g.95589177_95589199dup	NCBI36
NG_012247.1:g.205197_205219dup
NG_012247.2:g.205197_205219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1638_1660dup MANE Select	ENSP00000265631.6:p.Ala554GlyfsTer17
ENST00000265631.9:c.1638_1660dup	ENSP00000265631.5:p.Ala554GlyfsTer17
ENST00000416240.6:c.1641_1663dup	ENSP00000400101.2:p.Ala555GlyfsTer17
ENST00000494085.1:n.48_70dup
NM_001160210.1:c.1641_1663dup	NP_001153682.1:p.Ala555GlyfsTer17
NM_014251.2:c.1638_1660dup	NP_055066.1:p.Ala554GlyfsTer17
NR_027662.1:n.1713_1735dup
XM_006715831.2:c.1671_1693dup	XP_006715894.1:p.Ala565GlyfsTer17
XM_011515728.1:c.786_808dup	XP_011514030.1:p.Ala270GlyfsTer17
XM_006715831.4:c.1671_1693dup	XP_006715894.1:p.Ala565GlyfsTer17
XM_017011663.1:c.1629_1651dup	XP_016867152.1:p.Ala551GlyfsTer17
XM_017011664.2:c.786_808dup	XP_016867153.1:p.Ala270GlyfsTer17
XM_017011665.1:c.786_808dup	XP_016867154.1:p.Ala270GlyfsTer17
XR_001744525.2:n.1884_1906dup
XR_002956405.1:n.2442_2464dup
NM_014251.3:c.1638_1660dup MANE Select	NP_055066.1:p.Ala554GlyfsTer17
NR_027662.2:n.1664_1686dup
NM_001160210.2:c.1641_1663dup	NP_001153682.1:p.Ala555GlyfsTer17