Canonical Allele Identifier: CA2573137309

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1396376
• ClinVar RCV Id: RCV001902968 ; RCV002407022
• dbSNP Id: rs2153226489

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403242del , CM000665.2:g.52403242del	GRCh38
NC_000003.11:g.52437258del , CM000665.1:g.52437258del	GRCh37
NC_000003.10:g.52412298del	NCBI36
NG_031859.1:g.11752del , LRG_529:g.11752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1786del MANE Select	ENSP00000417132.1:p.Ser596AlafsTer21
ENST00000296288.9:c.1732del	ENSP00000296288.5:p.Ser578AlafsTer21
ENST00000460680.5:c.1786del	ENSP00000417132.1:p.Ser596AlafsTer21
ENST00000466093.1:n.193del
ENST00000469613.5:c.120-401del
ENST00000478368.1:c.289del	ENSP00000420647.1:p.Ser97AlafsTer21
NM_004656.3:c.1786del	NP_004647.1:p.Ser596AlafsTer21
XM_011534149.1:c.1786del	XP_011532451.1:p.Ser596AlafsTer21
XM_011534150.1:c.1786del	XP_011532452.1:p.Ser596AlafsTer?
XM_011534151.1:c.1732del	XP_011532453.1:p.Ser578AlafsTer21
XM_011534152.1:c.1786del	XP_011532454.1:p.Ser596AlafsTer26
XM_011534149.3:c.1786del	XP_011532451.1:p.Ser596AlafsTer21
XM_011534150.3:c.1786del	XP_011532452.1:p.Ser596AlafsTer?
XM_011534151.3:c.1732del	XP_011532453.1:p.Ser578AlafsTer21
XM_011534152.2:c.1786del	XP_011532454.1:p.Ser596AlafsTer26
XM_017007303.2:c.1732del	XP_016862792.1:p.Ser578AlafsTer21
NM_004656.4:c.1786del MANE Select	NP_004647.1:p.Ser596AlafsTer21