Canonical Allele Identifier: CA2678184804

Gene: PSMB8

Linked Data

• gnomAD v4: 6-32843067-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32843070dup , CM000668.2:g.32843070dup	GRCh38
NC_000006.11:g.32810847dup , CM000668.1:g.32810847dup	GRCh37
NC_000006.10:g.32918825dup	NCBI36
NG_009793.3:g.703dup
NG_028165.1:g.6868dup
NG_009793.4:g.703dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.190dup
ENST00000697612.1:n.868dup
ENST00000374881.3:c.157dup	ENSP00000364015.2:p.Leu53ProfsTer12
ENST00000374882.8:c.169dup MANE Select	ENSP00000364016.4:p.Leu57ProfsTer12
ENST00000650411.1:n.1490dup
ENST00000650793.1:n.190dup
ENST00000374881.2:c.157dup	ENSP00000364015.2:p.Leu53ProfsTer12
ENST00000374882.7:c.169dup	ENSP00000364016.3:p.Leu57ProfsTer12
ENST00000395339.7:c.169dup	ENSP00000378748.3:p.Leu57ProfsTer12
ENST00000484003.1:n.395dup
NM_004159.4:c.157dup	NP_004150.1:p.Leu53ProfsTer12
NM_148919.3:c.169dup	NP_683720.2:p.Leu57ProfsTer12
NM_148919.4:c.169dup MANE Select	NP_683720.2:p.Leu57ProfsTer12
NM_004159.5:c.157dup	NP_004150.1:p.Leu53ProfsTer12