Canonical Allele Identifier: CA2066828476

Gene: HSPB8

Linked Data

• dbSNP Id: rs1954681310
• gnomAD v4: 12-119187115-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187118del , CM000674.2:g.119187118del	GRCh38
NC_000012.11:g.119624923del , CM000674.1:g.119624923del	GRCh37
NC_000012.10:g.118109306del	NCBI36
NG_007953.2:g.13329del , LRG_249:g.13329del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281938.7:c.431+30del MANE Select	ENSP00000281938.3:n.431+30del
ENST00000674542.1:c.368-6581del	ENSP00000502352.1:n.368-6581del
ENST00000674715.1:n.604+30del
ENST00000674763.1:c.64+30del
ENST00000674852.1:c.64+30del
ENST00000675110.1:c.64+30del
ENST00000675211.1:c.64+30del
ENST00000675573.1:c.64+30del
ENST00000675900.1:n.21+5082del
ENST00000676071.1:n.164+30del
ENST00000676244.1:n.137+30del
ENST00000281938.6:c.431+30del	ENSP00000281938.2:n.431+30del
ENST00000541798.1:c.154+30del
ENST00000542496.1:n.289+30del
NM_014365.2:c.431+30del , LRG_249t1:c.431+30del	NP_055180.1:n.431+30del
NM_014365.3:c.431+30del MANE Select	NP_055180.1:n.431+30del