Canonical Allele Identifier: CA10430178

Gene: UBQLN2

Linked Data

• ClinVar Variation Id: 2024027
• ClinVar RCV Id: RCV002875998 ; RCV003961145 ; RCV003434513
• dbSNP Id: rs767736498
• ExAC: X:56591793 CCCCCATAGG / C
• gnomAD v2: X-56591793-CCCCCATAGG-C
• gnomAD v3: X-56565360-CCCCCATAGG-C
• gnomAD v4: X-56565360-CCCCCATAGG-C
• MyVariant Identifiers: chrX:g.56591794_56591802del (hg19) ; chrX:g.56565361_56565369del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.56565373_56565381del , CM000685.2:g.56565373_56565381del	GRCh38
NC_000023.10:g.56591806_56591814del , CM000685.1:g.56591806_56591814del	GRCh37
NC_000023.9:g.56608531_56608539del	NCBI36
NG_016249.1:g.6781_6789del , LRG_665:g.6781_6789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338222.7:c.1500_1508del MANE Select	ENSP00000345195.5:p.Ile501_Pro503del
ENST00000338222.6:c.1500_1508del	ENSP00000345195.5:p.Ile501_Pro503del
NM_013444.3:c.1500_1508del , LRG_665t1:c.1500_1508del	NP_038472.2:p.Ile501_Pro503del
XM_011530837.1:c.273+1633_273+1641del	XP_011529139.1:n.273+1633_273+1641del
NM_013444.4:c.1500_1508del MANE Select	NP_038472.2:p.Ile501_Pro503del