Canonical Allele Identifier: CA2454681296
Gene: UPF3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119841239_119841242delinsCTCT , CM000685.2:g.119841239_119841242delinsCTCT GRCh38
NC_000023.10:g.118975202_118975205delinsCTCT , CM000685.1:g.118975202_118975205delinsCTCT GRCh37
NC_000023.9:g.118859230_118859233delinsCTCT NCBI36
NG_009241.1:g.16764_16767delinsAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000276201.7:c.641_644delinsAGAG MANE Select ENSP00000276201.3:p.Lys214=
ENST00000276201.6:c.641_644delinsAGAG ENSP00000276201.2:p.Lys214=
ENST00000345865.6:c.641_644delinsAGAG ENSP00000245418.2:p.Lys214=
ENST00000478840.1:n.229_232delinsAGAG
ENST00000619445.1:c.624+493_624+496delinsAGAG ENSP00000481698.1:n.624+493_624+496delinsAGAG
NM_023010.3:c.641_644delinsAGAG NP_075386.1:p.Lys214=
NM_080632.2:c.641_644delinsAGAG NP_542199.1:p.Lys214=
XM_005262458.3:c.641_644delinsAGAG XP_005262515.1:p.Lys214=
XM_006724780.2:c.641_644delinsAGAG XP_006724843.1:p.Lys214=
XM_006724781.2:c.641_644delinsAGAG XP_006724844.1:p.Lys214=
XM_011531378.1:c.641_644delinsAGAG XP_011529680.1:p.Lys214=
XM_011531379.1:c.641_644delinsAGAG XP_011529681.1:p.Lys214=
XM_017029737.1:c.641_644delinsAGAG XP_016885226.1:p.Lys214=
XM_017029738.1:c.641_644delinsAGAG XP_016885227.1:p.Lys214=
XM_017029739.1:c.641_644delinsAGAG XP_016885228.1:p.Lys214=
XM_017029740.1:c.641_644delinsAGAG XP_016885229.1:p.Lys214=
NM_080632.3:c.641_644delinsAGAG MANE Select NP_542199.1:p.Lys214=
NM_023010.4:c.641_644delinsAGAG NP_075386.1:p.Lys214=