Canonical Allele Identifier: CA281642440
Gene: USB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.58020554_58020564del , CM000678.2:g.58020554_58020564del GRCh38
NC_000016.9:g.58054458_58054468del , CM000678.1:g.58054458_58054468del GRCh37
NC_000016.8:g.56611959_56611969del NCBI36
NG_027698.1:g.24182_24192del , LRG_352:g.24182_24192del

Transcript Alleles

HGVS Amino-acid Change
NM_024598.4:c.*309_*319del MANE Select NP_078874.2:n.*309_*319del
ENST00000219281.8:c.*309_*319del MANE Select ENSP00000219281.3:n.*309_*319del
NM_001195302.1:c.*309_*319del NP_001182231.1:n.*309_*319del
NM_001195302.2:c.*309_*319del NP_001182231.1:n.*309_*319del
NM_001330568.1:c.*309_*319del NP_001317497.1:n.*309_*319del
NM_001330568.2:c.*309_*319del NP_001317497.1:n.*309_*319del
NM_024598.3:c.*309_*319del , LRG_352t1:c.*309_*319del NP_078874.2:n.*309_*319del
ENST00000219281.7:c.*309_*319del ENSP00000219281.3:n.*309_*319del
ENST00000539737.6:c.*309_*319del ENSP00000446143.2:n.*309_*319del
ENST00000561568.6:c.*309_*319del ENSP00000457322.2:n.*309_*319del
ENST00000565662.6:c.*586_*596del ENSP00000513729.1:n.*586_*596del
ENST00000566082.1:n.2825_2835del
ENST00000698444.1:c.*309_*319del ENSP00000513726.1:n.*309_*319del
ENST00000698445.1:c.*314_*324del ENSP00000513727.1:n.*314_*324del
ENST00000698446.1:c.*798_*808del ENSP00000513728.1:n.*798_*808del
ENST00000698447.1:c.*764_*774del ENSP00000513732.1:n.*764_*774del
XM_005256144.3:c.*309_*319del XP_005256201.1:n.*309_*319del
XM_011523328.1:c.*309_*319del XP_011521630.1:n.*309_*319del
XM_011523329.1:c.*309_*319del XP_011521631.1:n.*309_*319del