Canonical Allele Identifier: CA913189155

Gene: UPF3B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119841197_119841200del , CM000685.2:g.119841197_119841200del	GRCh38
NC_000023.10:g.118975160_118975163del , CM000685.1:g.118975160_118975163del	GRCh37
NC_000023.9:g.118859188_118859191del	NCBI36
NG_009241.1:g.16807_16810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276201.7:c.684_687del MANE Select	ENSP00000276201.3:p.Arg229LysfsTer18
ENST00000276201.6:c.684_687del	ENSP00000276201.2:p.Arg229LysfsTer18
ENST00000345865.6:c.684_687del	ENSP00000245418.2:p.Arg229LysfsTer18
ENST00000478840.1:n.272_275del
ENST00000619445.1:c.624+536_624+539del	ENSP00000481698.1:n.624+536_624+539del
NM_023010.3:c.684_687del	NP_075386.1:p.Arg229LysfsTer18
NM_080632.2:c.684_687del	NP_542199.1:p.Arg229LysfsTer18
XM_005262458.3:c.684_687del	XP_005262515.1:p.Arg229LysfsTer18
XM_006724780.2:c.684_687del	XP_006724843.1:p.Arg229LysfsTer18
XM_006724781.2:c.684_687del	XP_006724844.1:p.Arg229LysfsTer18
XM_011531378.1:c.684_687del	XP_011529680.1:p.Arg229LysfsTer18
XM_011531379.1:c.684_687del	XP_011529681.1:p.Arg229LysfsTer18
XM_017029737.1:c.684_687del	XP_016885226.1:p.Arg229LysfsTer18
XM_017029738.1:c.684_687del	XP_016885227.1:p.Arg229LysfsTer18
XM_017029739.1:c.684_687del	XP_016885228.1:p.Arg229LysfsTer18
XM_017029740.1:c.684_687del	XP_016885229.1:p.Arg229LysfsTer18
NM_080632.3:c.684_687del MANE Select	NP_542199.1:p.Arg229LysfsTer18
NM_023010.4:c.684_687del	NP_075386.1:p.Arg229LysfsTer18