Canonical Allele Identifier: CA2499219079
Gene: SLC25A13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054965
ClinVar RCV Id: RCV001363561
dbSNP Id: rs2116381204

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121409_96121924del , CM000669.2:g.96121409_96121924del GRCh38
NC_000007.13:g.95750721_95751236del , CM000669.1:g.95750721_95751236del GRCh37
NC_000007.12:g.95588657_95589172del NCBI36
NG_012247.1:g.205225_205740del
NG_012247.2:g.205225_205740del

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1666_1842-31del
ENST00000265631.9:c.1666_1842-31del
ENST00000416240.6:c.1669_1845-31del
ENST00000494085.1:n.76_345-31del
NM_001160210.1:c.1669_1845-31del
NM_014251.2:c.1666_1842-31del
NR_027662.1:n.1741_1917-31del
XM_006715831.2:c.1699_1875-31del
XM_011515728.1:c.814_990-31del
XM_006715831.4:c.1699_1875-31del
XM_017011663.1:c.1657_1833-31del
XM_017011664.2:c.814_990-31del
XM_017011665.1:c.814_990-31del
XR_001744525.2:n.1912_2088-31del
XR_002956405.1:n.2470_2646-31del
NM_014251.3:c.1666_1842-31del
NR_027662.2:n.1692_1868-31del
NM_001160210.2:c.1669_1845-31del