Canonical Allele Identifier: CA891842687
Gene: PSMB8 HGNC NCBI

Linked Data

ClinVar Variation Id: 568159
ClinVar RCV Id: RCV000688424
dbSNP Id: rs1562352512

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32843069_32843070delinsAC , CM000668.2:g.32843069_32843070delinsAC GRCh38
NC_000006.11:g.32810846_32810847delinsAC , CM000668.1:g.32810846_32810847delinsAC GRCh37
NC_000006.10:g.32918824_32918825delinsAC NCBI36
NG_009793.3:g.701_702delinsGT
NG_028165.1:g.6866_6867delinsGT
NG_009793.4:g.701_702delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000650793.2:n.188_189delinsGT
ENST00000697612.1:n.866_867delinsGT
ENST00000374881.3:c.155_156delinsGT ENSP00000364015.2:p.Ser52Cys
ENST00000374882.8:c.167_168delinsGT MANE Select ENSP00000364016.4:p.Ser56Cys
ENST00000650411.1:n.1488_1489delinsGT
ENST00000650793.1:n.188_189delinsGT
ENST00000374881.2:c.155_156delinsGT ENSP00000364015.2:p.Ser52Cys
ENST00000374882.7:c.167_168delinsGT ENSP00000364016.3:p.Ser56Cys
ENST00000395339.7:c.167_168delinsGT ENSP00000378748.3:p.Ser56Cys
ENST00000484003.1:n.393_394delinsGT
NM_004159.4:c.155_156delinsGT NP_004150.1:p.Ser52Cys
NM_148919.3:c.167_168delinsGT NP_683720.2:p.Ser56Cys
NM_148919.4:c.167_168delinsGT MANE Select NP_683720.2:p.Ser56Cys
NM_004159.5:c.155_156delinsGT NP_004150.1:p.Ser52Cys