Canonical Allele Identifier: CA8084946

Gene: USB1

Linked Data

• ClinVar Variation Id: 496761
• ClinVar RCV Id: RCV000598593 ; RCV001853992
• dbSNP Id: rs777667891
• ExAC: 16:58048212 CCAAT / C
• gnomAD v2: 16-58048212-CCAAT-C
• gnomAD v3: 16-58014308-CCAAT-C
• gnomAD v4: 16-58014308-CCAAT-C
• MyVariant Identifiers: chr16:g.58048216_58048219del (hg19) ; chr16:g.58048213_58048216del (hg19) ; chr16:g.58014312_58014315del (hg38) ; chr16:g.58014310_58014313del (hg38) ; chr16:g.58014309_58014312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58014312_58014315del , CM000678.2:g.58014312_58014315del	GRCh38
NC_000016.9:g.58048216_58048219del , CM000678.1:g.58048216_58048219del	GRCh37
NC_000016.8:g.56605717_56605720del	NCBI36
NG_027698.1:g.17940_17943del , LRG_352:g.17940_17943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561568.6:c.450_453del	ENSP00000457322.2:p.Asn150LysfsTer?
ENST00000565662.6:c.471+18_471+21del	ENSP00000513729.1:n.471+18_471+21del
ENST00000698444.1:c.336_339del	ENSP00000513726.1:p.Asn112LysfsTer?
ENST00000698445.1:c.489_492del	ENSP00000513727.1:p.Asn163LysfsTer18
ENST00000698446.1:c.*195-3022_*195-3019del	ENSP00000513728.1:n.*195-3022_*195-3019del
ENST00000698447.1:c.*146_*149del	ENSP00000513732.1:n.*146_*149del
ENST00000219281.8:c.489_492del MANE Select	ENSP00000219281.3:p.Asn163LysfsTer?
ENST00000219281.7:c.489_492del	ENSP00000219281.3:p.Asn163LysfsTer?
ENST00000539737.6:c.450-3022_450-3019del	ENSP00000446143.2:n.450-3022_450-3019del
ENST00000561568.5:c.450_453del	ENSP00000457322.1:p.Asn150LysfsTer?
ENST00000561743.5:c.336_339del	ENSP00000454928.1:p.Asn112LysfsTer?
ENST00000562534.5:n.441_444del
ENST00000563207.1:n.365_368del
ENST00000564387.5:c.*146_*149del	ENSP00000457302.1:n.*146_*149del
ENST00000565151.1:n.684_687del
ENST00000565662.5:n.548+18_548+21del
NM_001195302.1:c.450-3022_450-3019del	NP_001182231.1:n.450-3022_450-3019del
NM_024598.3:c.489_492del , LRG_352t1:c.489_492del	NP_078874.2:p.Asn163LysfsTer?
XM_005256144.3:c.336_339del	XP_005256201.1:p.Asn112LysfsTer?
XM_011523328.1:c.450_453del	XP_011521630.1:p.Asn150LysfsTer?
XM_011523329.1:c.336_339del	XP_011521631.1:p.Asn112LysfsTer?
NM_001330568.1:c.336_339del	NP_001317497.1:p.Asn112LysfsTer?
NM_001195302.2:c.450-3022_450-3019del	NP_001182231.1:n.450-3022_450-3019del
NM_001330568.2:c.336_339del	NP_001317497.1:p.Asn112LysfsTer?
NM_024598.4:c.489_492del MANE Select	NP_078874.2:p.Asn163LysfsTer?