Canonical Allele Identifier: CA114043
Gene: USB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 202
ClinVar RCV Id: RCV000000225
dbSNP Id: rs137853972

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.58019045_58019056del , CM000678.2:g.58019045_58019056del GRCh38
NC_000016.9:g.58052949_58052960del , CM000678.1:g.58052949_58052960del GRCh37
NC_000016.8:g.56610450_56610461del NCBI36
NG_027698.1:g.22673_22684del , LRG_352:g.22673_22684del

Transcript Alleles

HGVS Amino-acid change
ENST00000561568.6:c.644_654+1del
ENST00000565662.6:c.*162_*172+1del
ENST00000698444.1:c.530_540+1del
ENST00000698445.1:c.577_587+1del
ENST00000698446.1:c.*374_*384+1del
ENST00000698447.1:c.*340_*350+1del
ENST00000219281.8:c.683_693+1del
ENST00000219281.7:c.683_693+1del
ENST00000539737.6:c.629_639+1del
ENST00000561743.5:c.530_540+1del
ENST00000566082.1:n.2401_2411+1del
NM_001195302.1:c.629_639+1del
NM_024598.3:c.683_693+1del , LRG_352t1:c.683_693+1del
XM_005256144.3:c.530_540+1del
XM_011523328.1:c.644_654+1del
XM_011523329.1:c.530_540+1del
NM_001330568.1:c.530_540+1del
NM_001195302.2:c.629_639+1del
NM_001330568.2:c.530_540+1del
NM_024598.4:c.683_693+1del