Canonical Allele Identifier: CA917718149

Gene: PSMB8

Linked Data

• dbSNP Id: rs1582609458
• gnomAD v4: 6-32843006-GGCGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32843010_32843013del , CM000668.2:g.32843010_32843013del	GRCh38
NC_000006.11:g.32810787_32810790del , CM000668.1:g.32810787_32810790del	GRCh37
NC_000006.10:g.32918765_32918768del	NCBI36
NG_009793.3:g.761_764del
NG_028165.1:g.6926_6929del
NG_009793.4:g.761_764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.248_251del
ENST00000697612.1:n.926_929del
ENST00000374881.3:c.215_218del	ENSP00000364015.2:p.Leu72ProfsTer8
ENST00000374882.8:c.227_230del MANE Select	ENSP00000364016.4:p.Leu76ProfsTer8
ENST00000650411.1:n.1548_1551del
ENST00000650793.1:n.248_251del
ENST00000374881.2:c.215_218del	ENSP00000364015.2:p.Leu72ProfsTer8
ENST00000374882.7:c.227_230del	ENSP00000364016.3:p.Leu76ProfsTer8
ENST00000395339.7:c.227_230del	ENSP00000378748.3:p.Leu76ProfsTer8
ENST00000484003.1:n.453_456del
NM_004159.4:c.215_218del	NP_004150.1:p.Leu72ProfsTer8
NM_148919.3:c.227_230del	NP_683720.2:p.Leu76ProfsTer8
NM_148919.4:c.227_230del MANE Select	NP_683720.2:p.Leu76ProfsTer8
NM_004159.5:c.215_218del	NP_004150.1:p.Leu72ProfsTer8