Canonical Allele Identifier: CA658792556

Gene: UPF3B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119837969_119837972del , CM000685.2:g.119837969_119837972del	GRCh38
NC_000023.10:g.118971932_118971935del , CM000685.1:g.118971932_118971935del	GRCh37
NC_000023.9:g.118855960_118855963del	NCBI36
NG_009241.1:g.20038_20041del

Transcript Alleles

HGVS	Amino-acid Change
NM_080632.3:c.1091_1094del MANE Select	NP_542199.1:p.Glu364GlyfsTer2
ENST00000276201.7:c.1091_1094del MANE Select	ENSP00000276201.3:p.Glu364GlyfsTer2
NM_023010.3:c.1052_1055del	NP_075386.1:p.Glu351GlyfsTer2
NM_023010.4:c.1052_1055del	NP_075386.1:p.Glu351GlyfsTer2
NM_080632.2:c.1091_1094del	NP_542199.1:p.Glu364GlyfsTer2
ENST00000276201.6:c.1091_1094del	ENSP00000276201.2:p.Glu364GlyfsTer2
ENST00000345865.6:c.1052_1055del	ENSP00000245418.2:p.Glu351GlyfsTer2
ENST00000619445.1:c.625-36_625-33del	ENSP00000481698.1:n.625-36_625-33del
XM_005262458.3:c.1091_1094del	XP_005262515.1:p.Glu364GlyfsTer2
XM_006724780.2:c.1052_1055del	XP_006724843.1:p.Glu351GlyfsTer2
XM_006724781.2:c.1091_1094del	XP_006724844.1:p.Glu364GlyfsTer2
XM_011531378.1:c.1091_1094del	XP_011529680.1:p.Glu364GlyfsTer2
XM_011531379.1:c.1091_1094del	XP_011529681.1:p.Glu364GlyfsTer2
XM_017029737.1:c.1091_1094del	XP_016885226.1:p.Glu364GlyfsTer2
XM_017029738.1:c.1091_1094del	XP_016885227.1:p.Glu364GlyfsTer2
XM_017029739.1:c.1052_1055del	XP_016885228.1:p.Glu351GlyfsTer2
XM_017029740.1:c.1091_1094del	XP_016885229.1:p.Glu364GlyfsTer2