Canonical Allele Identifier: CA891842891
Gene: BAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 578825
ClinVar RCV Id: RCV000701946
dbSNP Id: rs1559586374

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403416del , CM000665.2:g.52403416del GRCh38
NC_000003.11:g.52437432del , CM000665.1:g.52437432del GRCh37
NC_000003.10:g.52412472del NCBI36
NG_031859.1:g.11579del , LRG_529:g.11579del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1729+1del
ENST00000296288.9:c.1675+1del
ENST00000460680.5:c.1729+1del
ENST00000466093.1:n.136+1del
ENST00000469613.5:c.119+386del
ENST00000478368.1:c.232+1del
NM_004656.3:c.1729+1del
XM_011534149.1:c.1729+1del
XM_011534150.1:c.1729+1del
XM_011534151.1:c.1675+1del
XM_011534152.1:c.1729+1del
XM_011534149.3:c.1729+1del
XM_011534150.3:c.1729+1del
XM_011534151.3:c.1675+1del
XM_011534152.2:c.1729+1del
XM_017007303.2:c.1675+1del
NM_004656.4:c.1729+1del