Canonical Allele Identifier: CA16043269
Gene: USP9X HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372979
ClinVar RCV Id: RCV000413770
dbSNP Id: rs1057518114

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41136888_41136890del , CM000685.2:g.41136888_41136890del GRCh38
NC_000023.10:g.40996141_40996143del , CM000685.1:g.40996141_40996143del GRCh37
NC_000023.9:g.40881085_40881087del NCBI36
NG_012547.1:g.56254_56256del

Transcript Alleles

HGVS Amino-acid change
NM_001039590.2:c.520_522del VV NP_001034679.2:p.Leu174del
NM_001039591.2:c.520_522del VV NP_001034680.2:p.Leu174del
XM_005272675.3:c.520_522del XP_005272732.1:p.Leu174del
XM_005272676.3:c.520_522del XP_005272733.1:p.Leu174del
XM_005272675.4:c.520_522del
XM_005272676.4:c.520_522del
NM_001039591.3:c.520_522del VV MANE Preferred
ENST00000324545.8:c.520_522del ENSP00000316357.6:p.Leu174del
ENST00000378308.6:c.520_522del ENSP00000367558.2:p.Leu174del