Canonical Allele Identifier: CA16617999
Gene: BAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422267
dbSNP Id: rs1064795667

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52406830del , CM000665.2:g.52406830del GRCh38
NC_000003.11:g.52440846del , CM000665.1:g.52440846del GRCh37
NC_000003.10:g.52415886del NCBI36
NG_031859.1:g.8166del , LRG_529:g.8166del

Transcript Alleles

HGVS Amino-acid change
ENST00000460680.6:c.659+1del
ENST00000296288.9:c.659+1del
ENST00000460680.5:c.659+1del
ENST00000471532.5:n.375del
ENST00000483984.5:n.517del
NM_004656.3:c.659+1del
XM_011534149.1:c.659+1del
XM_011534150.1:c.659+1del
XM_011534151.1:c.659+1del
XM_011534152.1:c.659+1del
XM_011534149.3:c.659+1del
XM_011534150.3:c.659+1del
XM_011534151.3:c.659+1del
XM_011534152.2:c.659+1del
XM_017007303.2:c.659+1del
NM_004656.4:c.659+1del