Canonical Allele Identifier: CA2580070226

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2093671
• ClinVar RCV Id: RCV003020957

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403472_52403474del , CM000665.2:g.52403472_52403474del	GRCh38
NC_000003.11:g.52437488_52437490del , CM000665.1:g.52437488_52437490del	GRCh37
NC_000003.10:g.52412528_52412530del	NCBI36
NG_031859.1:g.11522_11524del , LRG_529:g.11522_11524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1673_1675del MANE Select	ENSP00000417132.1:p.Ser558del
ENST00000296288.9:c.1619_1621del	ENSP00000296288.5:p.Ser540del
ENST00000460680.5:c.1673_1675del	ENSP00000417132.1:p.Ser558del
ENST00000466093.1:n.80_82del
ENST00000469613.5:c.119+329_119+331del
ENST00000478368.1:c.176_178del	ENSP00000420647.1:p.Ser59del
NM_004656.3:c.1673_1675del	NP_004647.1:p.Ser558del
XM_011534149.1:c.1673_1675del	XP_011532451.1:p.Ser558del
XM_011534150.1:c.1673_1675del	XP_011532452.1:p.Ser558del
XM_011534151.1:c.1619_1621del	XP_011532453.1:p.Ser540del
XM_011534152.1:c.1673_1675del	XP_011532454.1:p.Ser558del
XM_011534149.3:c.1673_1675del	XP_011532451.1:p.Ser558del
XM_011534150.3:c.1673_1675del	XP_011532452.1:p.Ser558del
XM_011534151.3:c.1619_1621del	XP_011532453.1:p.Ser540del
XM_011534152.2:c.1673_1675del	XP_011532454.1:p.Ser558del
XM_017007303.2:c.1619_1621del	XP_016862792.1:p.Ser540del
NM_004656.4:c.1673_1675del MANE Select	NP_004647.1:p.Ser558del