Canonical Allele Identifier: CA2580070229

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2046270
• ClinVar RCV Id: RCV002913575

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403630_52403631del , CM000665.2:g.52403630_52403631del	GRCh38
NC_000003.11:g.52437646_52437647del , CM000665.1:g.52437646_52437647del	GRCh37
NC_000003.10:g.52412686_52412687del	NCBI36
NG_031859.1:g.11364_11365del , LRG_529:g.11364_11365del

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1515_1516del MANE Select	ENSP00000417132.1:p.Pro506ThrfsTer?
ENST00000296288.9:c.1461_1462del	ENSP00000296288.5:p.Pro488ThrfsTer?
ENST00000460680.5:c.1515_1516del	ENSP00000417132.1:p.Pro506ThrfsTer?
ENST00000469613.5:c.119+171_119+172del
ENST00000478368.1:c.18_19del	ENSP00000420647.1:p.Pro7ThrfsTer?
NM_004656.3:c.1515_1516del	NP_004647.1:p.Pro506ThrfsTer?
XM_011534149.1:c.1515_1516del	XP_011532451.1:p.Pro506ThrfsTer?
XM_011534150.1:c.1515_1516del	XP_011532452.1:p.Pro506ThrfsTer?
XM_011534151.1:c.1461_1462del	XP_011532453.1:p.Pro488ThrfsTer?
XM_011534152.1:c.1515_1516del	XP_011532454.1:p.Pro506ThrfsTer?
XM_011534149.3:c.1515_1516del	XP_011532451.1:p.Pro506ThrfsTer?
XM_011534150.3:c.1515_1516del	XP_011532452.1:p.Pro506ThrfsTer?
XM_011534151.3:c.1461_1462del	XP_011532453.1:p.Pro488ThrfsTer?
XM_011534152.2:c.1515_1516del	XP_011532454.1:p.Pro506ThrfsTer?
XM_017007303.2:c.1461_1462del	XP_016862792.1:p.Pro488ThrfsTer?
NM_004656.4:c.1515_1516del MANE Select	NP_004647.1:p.Pro506ThrfsTer?