Canonical Allele Identifier: CA2678184433

Gene: PSMB8

Linked Data

• gnomAD v4: 6-32842685-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842689_32842691dup , CM000668.2:g.32842689_32842691dup	GRCh38
NC_000006.11:g.32810466_32810468dup , CM000668.1:g.32810466_32810468dup	GRCh37
NC_000006.10:g.32918444_32918446dup	NCBI36
NG_009793.3:g.1083_1085dup
NG_028165.1:g.7248_7250dup
NG_009793.4:g.1083_1085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.570_572dup
ENST00000697612.1:n.1248_1250dup
ENST00000374881.3:c.379_381dup	ENSP00000364015.2:p.Leu127_Ala128insLeu
ENST00000374882.8:c.391_393dup MANE Select	ENSP00000364016.4:p.Leu131_Ala132insLeu
ENST00000650411.1:n.1712_1714dup
ENST00000650793.1:n.570_572dup
ENST00000374881.2:c.379_381dup	ENSP00000364015.2:p.Leu127_Ala128insLeu
ENST00000374882.7:c.391_393dup	ENSP00000364016.3:p.Leu131_Ala132insLeu
ENST00000395339.7:c.319_321dup	ENSP00000378748.3:p.Leu107_Ala108insLeu
ENST00000484003.1:n.775_777dup
NM_004159.4:c.379_381dup	NP_004150.1:p.Leu127_Ala128insLeu
NM_148919.3:c.391_393dup	NP_683720.2:p.Leu131_Ala132insLeu
NM_148919.4:c.391_393dup MANE Select	NP_683720.2:p.Leu131_Ala132insLeu
NM_004159.5:c.379_381dup	NP_004150.1:p.Leu127_Ala128insLeu