Canonical Allele Identifier: CA2739064884
Gene: UPF3B HGNC NCBI

Linked Data

dbSNP Id: rs2147787242

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119841188_119841226del , CM000685.2:g.119841188_119841226del GRCh38
NC_000023.10:g.118975151_118975189del , CM000685.1:g.118975151_118975189del GRCh37
NC_000023.9:g.118859179_118859217del NCBI36
NG_009241.1:g.16786_16824del

Transcript Alleles

HGVS Amino-acid Change
ENST00000276201.7:c.663_701del MANE Select ENSP00000276201.3:p.Glu222_Arg234del
ENST00000276201.6:c.663_701del ENSP00000276201.2:p.Glu222_Arg234del
ENST00000345865.6:c.663_701del ENSP00000245418.2:p.Glu222_Arg234del
ENST00000478840.1:n.251_289del
ENST00000619445.1:c.624+515_624+553del ENSP00000481698.1:n.624+515_624+553del
NM_023010.3:c.663_701del NP_075386.1:p.Glu222_Arg234del
NM_080632.2:c.663_701del NP_542199.1:p.Glu222_Arg234del
XM_005262458.3:c.663_701del XP_005262515.1:p.Glu222_Arg234del
XM_006724780.2:c.663_701del XP_006724843.1:p.Glu222_Arg234del
XM_006724781.2:c.663_701del XP_006724844.1:p.Glu222_Arg234del
XM_011531378.1:c.663_701del XP_011529680.1:p.Glu222_Arg234del
XM_011531379.1:c.663_701del XP_011529681.1:p.Glu222_Arg234del
XM_017029737.1:c.663_701del XP_016885226.1:p.Glu222_Arg234del
XM_017029738.1:c.663_701del XP_016885227.1:p.Glu222_Arg234del
XM_017029739.1:c.663_701del XP_016885228.1:p.Glu222_Arg234del
XM_017029740.1:c.663_701del XP_016885229.1:p.Glu222_Arg234del
NM_080632.3:c.663_701del MANE Select NP_542199.1:p.Glu222_Arg234del
NM_023010.4:c.663_701del NP_075386.1:p.Glu222_Arg234del