Canonical Allele Identifier: CA2580612464

Gene: UPF3B

Linked Data

• ClinVar Variation Id: 988748
• ClinVar RCV Id: RCV001270413

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119841241_119841242del , CM000685.2:g.119841241_119841242del	GRCh38
NC_000023.10:g.118975204_118975205del , CM000685.1:g.118975204_118975205del	GRCh37
NC_000023.9:g.118859232_118859233del	NCBI36
NG_009241.1:g.16769_16770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276201.7:c.646_647del MANE Select	ENSP00000276201.3:p.Glu216ArgfsTer?
ENST00000276201.6:c.646_647del	ENSP00000276201.2:p.Glu216ArgfsTer?
ENST00000345865.6:c.646_647del	ENSP00000245418.2:p.Glu216ArgfsTer?
ENST00000478840.1:n.234_235del
ENST00000619445.1:c.624+498_624+499del	ENSP00000481698.1:n.624+498_624+499del
NM_023010.3:c.646_647del	NP_075386.1:p.Glu216ArgfsTer?
NM_080632.2:c.646_647del	NP_542199.1:p.Glu216ArgfsTer?
XM_005262458.3:c.646_647del	XP_005262515.1:p.Glu216ArgfsTer?
XM_006724780.2:c.646_647del	XP_006724843.1:p.Glu216ArgfsTer?
XM_006724781.2:c.646_647del	XP_006724844.1:p.Glu216ArgfsTer?
XM_011531378.1:c.646_647del	XP_011529680.1:p.Glu216ArgfsTer?
XM_011531379.1:c.646_647del	XP_011529681.1:p.Glu216ArgfsTer?
XM_017029737.1:c.646_647del	XP_016885226.1:p.Glu216ArgfsTer?
XM_017029738.1:c.646_647del	XP_016885227.1:p.Glu216ArgfsTer?
XM_017029739.1:c.646_647del	XP_016885228.1:p.Glu216ArgfsTer?
XM_017029740.1:c.646_647del	XP_016885229.1:p.Glu216ArgfsTer?
NM_080632.3:c.646_647del MANE Select	NP_542199.1:p.Glu216ArgfsTer?
NM_023010.4:c.646_647del	NP_075386.1:p.Glu216ArgfsTer?