Canonical Allele Identifier: CA2580070227

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1916047
• ClinVar RCV Id: RCV002594290

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403496del , CM000665.2:g.52403496del	GRCh38
NC_000003.11:g.52437512del , CM000665.1:g.52437512del	GRCh37
NC_000003.10:g.52412552del	NCBI36
NG_031859.1:g.11498del , LRG_529:g.11498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1649del MANE Select	ENSP00000417132.1:p.Val550AlafsTer21
ENST00000296288.9:c.1595del	ENSP00000296288.5:p.Val532AlafsTer21
ENST00000460680.5:c.1649del	ENSP00000417132.1:p.Val550AlafsTer21
ENST00000466093.1:n.56del
ENST00000469613.5:c.119+305del
ENST00000478368.1:c.152del	ENSP00000420647.1:p.Val51AlafsTer21
NM_004656.3:c.1649del	NP_004647.1:p.Val550AlafsTer21
XM_011534149.1:c.1649del	XP_011532451.1:p.Val550AlafsTer21
XM_011534150.1:c.1649del	XP_011532452.1:p.Val550AlafsTer21
XM_011534151.1:c.1595del	XP_011532453.1:p.Val532AlafsTer21
XM_011534152.1:c.1649del	XP_011532454.1:p.Val550AlafsTer21
XM_011534149.3:c.1649del	XP_011532451.1:p.Val550AlafsTer21
XM_011534150.3:c.1649del	XP_011532452.1:p.Val550AlafsTer21
XM_011534151.3:c.1595del	XP_011532453.1:p.Val532AlafsTer21
XM_011534152.2:c.1649del	XP_011532454.1:p.Val550AlafsTer21
XM_017007303.2:c.1595del	XP_016862792.1:p.Val532AlafsTer21
NM_004656.4:c.1649del MANE Select	NP_004647.1:p.Val550AlafsTer21