Canonical Allele Identifier: CA658798609

Gene: USB1

Linked Data

• ClinVar Variation Id: 496756
• ClinVar RCV Id: RCV000598944
• dbSNP Id: rs1555498117
• MyVariant Identifiers: chr16:g.58043901dup (hg19) ; chr16:g.58009997dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58009997dup , CM000678.2:g.58009997dup	GRCh38
NC_000016.9:g.58043901dup , CM000678.1:g.58043901dup	GRCh37
NC_000016.8:g.56601402dup	NCBI36
NG_027698.1:g.13625dup , LRG_352:g.13625dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423271.8:c.334dup	ENSP00000409792.3:p.Arg112ProfsTer?
ENST00000561568.6:c.295dup	ENSP00000457322.2:p.Arg99ProfsTer?
ENST00000563149.2:c.334dup	ENSP00000454692.1:p.Arg112ProfsTer?
ENST00000565662.6:c.334dup	ENSP00000513729.1:p.Arg112ProfsTer?
ENST00000698444.1:c.181dup	ENSP00000513726.1:p.Arg61ProfsTer?
ENST00000698445.1:c.334dup	ENSP00000513727.1:p.Arg112ProfsTer?
ENST00000698446.1:c.*79dup	ENSP00000513728.1:n.*79dup
ENST00000698447.1:c.387dup	ENSP00000513732.1:p.Gly130ArgfsTer?
ENST00000698510.1:c.334dup	ENSP00000513760.1:p.Arg112ProfsTer?
ENST00000219281.8:c.334dup MANE Select	ENSP00000219281.3:p.Arg112ProfsTer?
ENST00000219281.7:c.334dup	ENSP00000219281.3:p.Arg112ProfsTer?
ENST00000423271.7:c.334dup	ENSP00000409792.3:p.Arg112ProfsTer?
ENST00000539737.6:c.334dup	ENSP00000446143.2:p.Arg112ProfsTer?
ENST00000561568.5:c.295dup	ENSP00000457322.1:p.Arg99ProfsTer?
ENST00000561743.5:c.181dup	ENSP00000454928.1:p.Arg61ProfsTer?
ENST00000562534.5:n.286dup
ENST00000563149.1:c.334dup	ENSP00000454692.1:p.Arg112ProfsTer?
ENST00000563207.1:n.326-4276dup
ENST00000564387.5:c.279dup	ENSP00000457302.1:p.Gly94ArgfsTer?
ENST00000565662.5:n.411dup
ENST00000566292.5:n.402dup
ENST00000568848.5:n.399dup
ENST00000569252.5:n.420dup
NM_001195302.1:c.334dup	NP_001182231.1:p.Arg112ProfsTer?
NM_001204911.1:c.334dup	NP_001191840.1:p.Arg112ProfsTer?
NM_024598.3:c.334dup , LRG_352t1:c.334dup	NP_078874.2:p.Arg112ProfsTer?
XM_005256144.3:c.181dup	XP_005256201.1:p.Arg61ProfsTer?
XM_011523328.1:c.295dup	XP_011521630.1:p.Arg99ProfsTer?
XM_011523329.1:c.181dup	XP_011521631.1:p.Arg61ProfsTer?
XM_011523330.1:c.334dup	XP_011521632.1:p.Arg112ProfsTer?
XR_933427.1:n.411dup
XR_933428.1:n.411dup
NM_001330568.1:c.181dup	NP_001317497.1:p.Arg61ProfsTer?
NM_001330569.1:c.334dup	NP_001317498.1:p.Arg112ProfsTer?
NM_001195302.2:c.334dup	NP_001182231.1:p.Arg112ProfsTer?
NM_001204911.2:c.334dup	NP_001191840.1:p.Arg112ProfsTer?
NM_001330568.2:c.181dup	NP_001317497.1:p.Arg61ProfsTer?
NM_001330569.2:c.334dup	NP_001317498.1:p.Arg112ProfsTer?
NM_024598.4:c.334dup MANE Select	NP_078874.2:p.Arg112ProfsTer?