Canonical Allele Identifier: CA2580612465

Gene: UPF3B

Linked Data

• ClinVar Variation Id: 2504551
• ClinVar RCV Id: RCV003232012

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119843306_119843309del , CM000685.2:g.119843306_119843309del	GRCh38
NC_000023.10:g.118977269_118977272del , CM000685.1:g.118977269_118977272del	GRCh37
NC_000023.9:g.118861297_118861300del	NCBI36
NG_009241.1:g.14700_14703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276201.7:c.470-5_470-2del MANE Select	ENSP00000276201.3:n.470-5_470-2del
ENST00000276201.6:c.470-5_470-2del	ENSP00000276201.2:n.470-5_470-2del
ENST00000345865.6:c.470-5_470-2del	ENSP00000245418.2:n.470-5_470-2del
ENST00000478840.1:n.58-5_58-2del
ENST00000619445.1:c.470-5_470-2del	ENSP00000481698.1:n.470-5_470-2del
NM_023010.3:c.470-5_470-2del	NP_075386.1:n.470-5_470-2del
NM_080632.2:c.470-5_470-2del	NP_542199.1:n.470-5_470-2del
XM_005262458.3:c.470-5_470-2del	XP_005262515.1:n.470-5_470-2del
XM_006724780.2:c.470-5_470-2del	XP_006724843.1:n.470-5_470-2del
XM_006724781.2:c.470-5_470-2del	XP_006724844.1:n.470-5_470-2del
XM_011531378.1:c.470-5_470-2del	XP_011529680.1:n.470-5_470-2del
XM_011531379.1:c.470-5_470-2del	XP_011529681.1:n.470-5_470-2del
XM_017029737.1:c.470-5_470-2del	XP_016885226.1:n.470-5_470-2del
XM_017029738.1:c.470-5_470-2del	XP_016885227.1:n.470-5_470-2del
XM_017029739.1:c.470-5_470-2del	XP_016885228.1:n.470-5_470-2del
XM_017029740.1:c.470-5_470-2del	XP_016885229.1:n.470-5_470-2del
NM_080632.3:c.470-5_470-2del MANE Select	NP_542199.1:n.470-5_470-2del
NM_023010.4:c.470-5_470-2del	NP_075386.1:n.470-5_470-2del