Canonical Allele Identifier: CA10584026
Gene: SLC7A9 HGNC NCBI

Linked Data

ClinVar Variation Id: 242913
ClinVar RCV Id: RCV000234864

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32833225_32838002del , CM000681.2:g.32833225_32838002del GRCh38
NC_000019.9:g.33324131_33328908del , CM000681.1:g.33324131_33328908del GRCh37
NC_000019.8:g.38015971_38020748del NCBI36
NG_008258.1:g.36777_41554del

Transcript Alleles

HGVS Amino-acid Change
ENST00000023064.9:c.1224+4167_1324del
ENST00000023064.8:c.1224+4167_1324del
ENST00000587772.1:c.1224+4167_1324del
ENST00000590341.5:c.1224+4167_1324del
ENST00000590465.5:c.*1371+4167_*1471del
ENST00000592232.5:c.*633+4167_*733del
NM_001126335.1:c.1224+4167_1324del
NM_001243036.1:c.1224+4167_1324del
NM_014270.4:c.1224+4167_1324del
XM_006722992.1:c.543+4167_643del
XM_011526402.1:c.1224+4167_1324del
XM_011526402.3:c.1224+4167_1324del
XM_017026230.1:c.960+4167_1060del
XM_024451334.1:c.597+4167_697del
NM_014270.5:c.1224+4167_1324del
NM_001126335.2:c.1224+4167_1324del
NM_001243036.2:c.1224+4167_1324del