Canonical Allele Identifier: CA1087613566

Gene: PSMB8

Linked Data

• dbSNP Id: rs1769989910
• gnomAD v3: 6-32842665-CGCTT-C
• gnomAD v4: 6-32842665-CGCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32842666_32842669del , CM000668.2:g.32842666_32842669del	GRCh38
NC_000006.11:g.32810443_32810446del , CM000668.1:g.32810443_32810446del	GRCh37
NC_000006.10:g.32918421_32918424del	NCBI36
NG_009793.3:g.1102_1105del
NG_028165.1:g.7267_7270del
NG_009793.4:g.1102_1105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650793.2:n.589_592del
ENST00000697612.1:n.1264+3_1264+6del
ENST00000374881.3:c.395+3_395+6del	ENSP00000364015.2:n.395+3_395+6del
ENST00000374882.8:c.407+3_407+6del MANE Select	ENSP00000364016.4:n.407+3_407+6del
ENST00000650411.1:n.1728+3_1728+6del
ENST00000650793.1:n.589_592del
ENST00000374881.2:c.395+3_395+6del	ENSP00000364015.2:n.395+3_395+6del
ENST00000374882.7:c.407+3_407+6del	ENSP00000364016.3:n.407+3_407+6del
ENST00000395339.7:c.335+3_335+6del	ENSP00000378748.3:n.335+3_335+6del
ENST00000484003.1:n.791+3_791+6del
NM_004159.4:c.395+3_395+6del	NP_004150.1:n.395+3_395+6del
NM_148919.3:c.407+3_407+6del	NP_683720.2:n.407+3_407+6del
NM_148919.4:c.407+3_407+6del MANE Select	NP_683720.2:n.407+3_407+6del
NM_004159.5:c.395+3_395+6del	NP_004150.1:n.395+3_395+6del