Canonical Allele Identifier: CA658798611

Gene: USB1

Linked Data

• ClinVar Variation Id: 496745
• ClinVar RCV Id: RCV000598696
• dbSNP Id: rs1555498565
• MyVariant Identifiers: chr16:g.58051265del (hg19) ; chr16:g.58017361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58017361del , CM000678.2:g.58017361del	GRCh38
NC_000016.9:g.58051265del , CM000678.1:g.58051265del	GRCh37
NC_000016.8:g.56608766del	NCBI36
NG_027698.1:g.20989del , LRG_352:g.20989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561568.6:c.492del	ENSP00000457322.2:p.His166MetfsTer?
ENST00000565662.6:c.*10del	ENSP00000513729.1:n.*10del
ENST00000698444.1:c.378del	ENSP00000513726.1:p.His128MetfsTer?
ENST00000698445.1:c.504-1611del	ENSP00000513727.1:n.504-1611del
ENST00000698446.1:c.*222del	ENSP00000513728.1:n.*222del
ENST00000698447.1:c.*188del	ENSP00000513732.1:n.*188del
ENST00000219281.8:c.531del MANE Select	ENSP00000219281.3:p.His179MetfsTer?
ENST00000219281.7:c.531del	ENSP00000219281.3:p.His179MetfsTer?
ENST00000539737.6:c.477del	ENSP00000446143.2:p.His161MetfsTer?
ENST00000561568.5:c.492del	ENSP00000457322.1:p.His166MetfsTer?
ENST00000561743.5:c.378del	ENSP00000454928.1:p.His128MetfsTer?
ENST00000562534.5:n.483del
ENST00000563207.1:n.407del
ENST00000564387.5:c.*188del	ENSP00000457302.1:n.*188del
ENST00000565151.1:n.726del
ENST00000565662.5:n.576del
ENST00000566082.1:n.2249del
NM_001195302.1:c.477del	NP_001182231.1:p.His161MetfsTer?
NM_024598.3:c.531del , LRG_352t1:c.531del	NP_078874.2:p.His179MetfsTer?
XM_005256144.3:c.378del	XP_005256201.1:p.His128MetfsTer?
XM_011523328.1:c.492del	XP_011521630.1:p.His166MetfsTer?
XM_011523329.1:c.378del	XP_011521631.1:p.His128MetfsTer?
NM_001330568.1:c.378del	NP_001317497.1:p.His128MetfsTer?
NM_001195302.2:c.477del	NP_001182231.1:p.His161MetfsTer?
NM_001330568.2:c.378del	NP_001317497.1:p.His128MetfsTer?
NM_024598.4:c.531del MANE Select	NP_078874.2:p.His179MetfsTer?