Canonical Allele Identifier: CA203521

Gene: UPF3B

Linked Data

• ClinVar Variation Id: 198608
• ClinVar RCV Id: RCV000012151 ; RCV000494240 ; RCV001787090
• dbSNP Id: rs794727881
• gnomAD v3: X-119841205-TTTTC-T
• gnomAD v4: X-119841205-TTTTC-T
• MyVariant Identifiers: chrX:g.118975169_118975172del (hg19) ; chrX:g.119841206_119841209del (hg38)
• PubMed: PMID:23891399 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119841211_119841214del , CM000685.2:g.119841211_119841214del	GRCh38
NC_000023.10:g.118975174_118975177del , CM000685.1:g.118975174_118975177del	GRCh37
NC_000023.9:g.118859202_118859205del	NCBI36
NG_009241.1:g.16797_16800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276201.7:c.674_677del MANE Select	ENSP00000276201.3:p.Arg225LysfsTer22
ENST00000276201.6:c.674_677del	ENSP00000276201.2:p.Arg225LysfsTer22
ENST00000345865.6:c.674_677del	ENSP00000245418.2:p.Arg225LysfsTer22
ENST00000478840.1:n.262_265del
ENST00000619445.1:c.624+526_624+529del	ENSP00000481698.1:n.624+526_624+529del
NM_023010.3:c.674_677del	NP_075386.1:p.Arg225LysfsTer22
NM_080632.2:c.674_677del	NP_542199.1:p.Arg225LysfsTer22
XM_005262458.3:c.674_677del	XP_005262515.1:p.Arg225LysfsTer22
XM_006724780.2:c.674_677del	XP_006724843.1:p.Arg225LysfsTer22
XM_006724781.2:c.674_677del	XP_006724844.1:p.Arg225LysfsTer22
XM_011531378.1:c.674_677del	XP_011529680.1:p.Arg225LysfsTer22
XM_011531379.1:c.674_677del	XP_011529681.1:p.Arg225LysfsTer22
XM_017029737.1:c.674_677del	XP_016885226.1:p.Arg225LysfsTer22
XM_017029738.1:c.674_677del	XP_016885227.1:p.Arg225LysfsTer22
XM_017029739.1:c.674_677del	XP_016885228.1:p.Arg225LysfsTer22
XM_017029740.1:c.674_677del	XP_016885229.1:p.Arg225LysfsTer22
NM_080632.3:c.674_677del MANE Select	NP_542199.1:p.Arg225LysfsTer22
NM_023010.4:c.674_677del	NP_075386.1:p.Arg225LysfsTer22