Canonical Allele Identifier: CA2739272903

Gene: PSMB8

Linked Data

• ClinVar Variation Id: 2844110
• ClinVar RCV Id: RCV003762683

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842696del , CM000668.2:g.32842696del	GRCh38
NC_000006.11:g.32810473del , CM000668.1:g.32810473del	GRCh37
NC_000006.10:g.32918451del	NCBI36
NG_009793.3:g.1075del
NG_028165.1:g.7240del
NG_009793.4:g.1075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.562del
ENST00000697612.1:n.1240del
ENST00000374881.3:c.371del	ENSP00000364015.2:p.Glu124GlyfsTer?
ENST00000374882.8:c.383del MANE Select	ENSP00000364016.4:p.Glu128GlyfsTer?
ENST00000650411.1:n.1704del
ENST00000650793.1:n.562del
ENST00000374881.2:c.371del	ENSP00000364015.2:p.Glu124GlyfsTer?
ENST00000374882.7:c.383del	ENSP00000364016.3:p.Glu128GlyfsTer?
ENST00000395339.7:c.311del	ENSP00000378748.3:p.Glu104GlyfsTer?
ENST00000484003.1:n.767del
NM_004159.4:c.371del	NP_004150.1:p.Glu124GlyfsTer?
NM_148919.3:c.383del	NP_683720.2:p.Glu128GlyfsTer?
NM_148919.4:c.383del MANE Select	NP_683720.2:p.Glu128GlyfsTer?
NM_004159.5:c.371del	NP_004150.1:p.Glu124GlyfsTer?