Canonical Allele Identifier: CA658657609

Gene: NUS1

Linked Data

• ClinVar Variation Id: 487687
• ClinVar RCV Id: RCV000577867 ; RCV001090683
• dbSNP Id: rs1554200722
• MyVariant Identifiers: chr6:g.117996961_117996974dup (hg19) ; chr6:g.117675798_117675811dup (hg38)
• PubMed: PMID:29100083

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117675798_117675811dup , CM000668.2:g.117675798_117675811dup	GRCh38
NC_000006.11:g.117996961_117996974dup , CM000668.1:g.117996961_117996974dup	GRCh37
NC_000006.10:g.118103654_118103667dup	NCBI36
NG_054913.1:g.5345_5358dup
NG_054913.2:g.5345_5358dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368494.4:c.128_141dup MANE Select	ENSP00000357480.3:p.Val48ProfsTer7
ENST00000368494.3:c.128_141dup	ENSP00000357480.3:p.Val48ProfsTer7
NM_138459.3:c.128_141dup	NP_612468.1:p.Val48ProfsTer7
NM_138459.4:c.128_141dup	NP_612468.1:p.Val48ProfsTer7
NM_138459.5:c.128_141dup MANE Select	NP_612468.1:p.Val48ProfsTer7