Canonical Allele Identifier: CA16609521
Gene: UBQLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 402173
dbSNP Id: rs1060499753

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.83683023del , CM000671.2:g.83683023del GRCh38
NC_000009.11:g.86297938del , CM000671.1:g.86297938del GRCh37
NC_000009.10:g.85487758del NCBI36
NG_011519.1:g.30232del

Transcript Alleles

HGVS Amino-acid change
ENST00000376395.9:c.377del MANE Select ENSP00000365576.4:p.Asn126MetfsTer24
ENST00000257468.11:c.377del ENSP00000257468.7:p.Asn126MetfsTer24
ENST00000376395.8:c.377del ENSP00000365576.4:p.Asn126MetfsTer24
ENST00000529923.1:c.103-4423del ENSP00000434194.1:n.103-4423del
ENST00000533705.5:n.95del
NM_013438.4:c.377del NP_038466.2:p.Asn126MetfsTer24
NM_053067.2:c.377del NP_444295.1:p.Asn126MetfsTer24
XM_005251948.1:c.377del XP_005252005.1:p.Asn126MetfsTer24
XM_005251948.3:c.377del XP_005252005.1:p.Asn126MetfsTer24
NM_013438.5:c.377del MANE Select NP_038466.2:p.Asn126MetfsTer24
NM_053067.3:c.377del NP_444295.1:p.Asn126MetfsTer24