Canonical Allele Identifier: CA212725

Gene: USB1

Linked Data

• ClinVar Variation Id: 18399
• ClinVar RCV Id: RCV000000227
• dbSNP Id: rs786205051
• MyVariant Identifiers: chr16:g.58036463del (hg19) ; chr16:g.58002559del (hg38)
• PubMed: PMID:18925663 ; PMID:20503306 ; PMID:29072891

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58002559del , CM000678.2:g.58002559del	GRCh38
NC_000016.9:g.58036463del , CM000678.1:g.58036463del	GRCh37
NC_000016.8:g.56593964del	NCBI36
NG_027698.1:g.6187del , LRG_352:g.6187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423271.8:c.179del	ENSP00000409792.3:p.Pro60LeufsTer?
ENST00000561568.6:c.140del	ENSP00000457322.2:p.Pro47LeufsTer?
ENST00000563149.2:c.179del	ENSP00000454692.1:p.Pro60LeufsTer?
ENST00000565662.6:c.179del	ENSP00000513729.1:p.Pro60LeufsTer?
ENST00000698444.1:c.26del	ENSP00000513726.1:p.Pro9LeufsTer?
ENST00000698445.1:c.179del	ENSP00000513727.1:p.Pro60LeufsTer?
ENST00000698446.1:c.179del	ENSP00000513728.1:p.Pro60LeufsTer?
ENST00000698447.1:c.179del	ENSP00000513732.1:p.Pro60LeufsTer?
ENST00000698510.1:c.179del	ENSP00000513760.1:p.Pro60LeufsTer?
ENST00000219281.8:c.179del MANE Select	ENSP00000219281.3:p.Pro60LeufsTer?
ENST00000219281.7:c.179del	ENSP00000219281.3:p.Pro60LeufsTer?
ENST00000423271.7:c.179del	ENSP00000409792.3:p.Pro60LeufsTer?
ENST00000539737.6:c.179del	ENSP00000446143.2:p.Pro60LeufsTer?
ENST00000561568.5:c.140del	ENSP00000457322.1:p.Pro47LeufsTer?
ENST00000561743.5:c.26del	ENSP00000454928.1:p.Pro9LeufsTer?
ENST00000562534.5:n.188-57del
ENST00000563149.1:c.179del	ENSP00000454692.1:p.Pro60LeufsTer?
ENST00000563207.1:n.239del
ENST00000564387.5:c.179del	ENSP00000457302.1:p.Pro60LeufsTer12
ENST00000565662.5:n.256del
ENST00000566292.5:n.247del
ENST00000568848.5:n.244del
ENST00000569252.5:n.247del
NM_001195302.1:c.179del	NP_001182231.1:p.Pro60LeufsTer?
NM_001204911.1:c.179del	NP_001191840.1:p.Pro60LeufsTer?
NM_024598.3:c.179del , LRG_352t1:c.179del	NP_078874.2:p.Pro60LeufsTer?
XM_005256144.3:c.26del	XP_005256201.1:p.Pro9LeufsTer?
XM_011523328.1:c.140del	XP_011521630.1:p.Pro47LeufsTer?
XM_011523329.1:c.26del	XP_011521631.1:p.Pro9LeufsTer?
XM_011523330.1:c.179del	XP_011521632.1:p.Pro60LeufsTer?
XR_933427.1:n.256del
XR_933428.1:n.256del
NM_001330568.1:c.26del	NP_001317497.1:p.Pro9LeufsTer?
NM_001330569.1:c.179del	NP_001317498.1:p.Pro60LeufsTer?
NM_001195302.2:c.179del	NP_001182231.1:p.Pro60LeufsTer?
NM_001204911.2:c.179del	NP_001191840.1:p.Pro60LeufsTer?
NM_001330568.2:c.26del	NP_001317497.1:p.Pro9LeufsTer?
NM_001330569.2:c.179del	NP_001317498.1:p.Pro60LeufsTer?
NM_024598.4:c.179del MANE Select	NP_078874.2:p.Pro60LeufsTer?