Canonical Allele Identifier: CA2678184454
Gene: PSMB8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32842708_32842709del , CM000668.2:g.32842708_32842709del GRCh38
NC_000006.11:g.32810485_32810486del , CM000668.1:g.32810485_32810486del GRCh37
NC_000006.10:g.32918463_32918464del NCBI36
NG_009793.3:g.1063_1064del
NG_028165.1:g.7228_7229del
NG_009793.4:g.1063_1064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.550_551del
ENST00000697612.1:n.1228_1229del
ENST00000374881.3:c.359_360del ENSP00000364015.2:p.Cys120SerfsTer?
ENST00000374882.8:c.371_372del MANE Select ENSP00000364016.4:p.Cys124SerfsTer?
ENST00000650411.1:n.1692_1693del
ENST00000650793.1:n.550_551del
ENST00000374881.2:c.359_360del ENSP00000364015.2:p.Cys120SerfsTer?
ENST00000374882.7:c.371_372del ENSP00000364016.3:p.Cys124SerfsTer?
ENST00000395339.7:c.299_300del ENSP00000378748.3:p.Cys100SerfsTer?
ENST00000484003.1:n.755_756del
NM_004159.4:c.359_360del NP_004150.1:p.Cys120SerfsTer?
NM_148919.3:c.371_372del NP_683720.2:p.Cys124SerfsTer?
NM_148919.4:c.371_372del MANE Select NP_683720.2:p.Cys124SerfsTer?
NM_004159.5:c.359_360del NP_004150.1:p.Cys120SerfsTer?