Canonical Allele Identifier: CA2580616481

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1456704
• ClinVar RCV Id: RCV001946952
• dbSNP Id: rs1705022971

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403199_52403200del , CM000665.2:g.52403199_52403200del	GRCh38
NC_000003.11:g.52437215_52437216del , CM000665.1:g.52437215_52437216del	GRCh37
NC_000003.10:g.52412255_52412256del	NCBI36
NG_031859.1:g.11799_11800del , LRG_529:g.11799_11800del

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1833_1834del MANE Select	ENSP00000417132.1:p.Lys612AspfsTer?
ENST00000296288.9:c.1779_1780del	ENSP00000296288.5:p.Lys594AspfsTer?
ENST00000460680.5:c.1833_1834del	ENSP00000417132.1:p.Lys612AspfsTer?
ENST00000466093.1:n.240_241del
ENST00000469613.5:c.120-354_120-353del
ENST00000478368.1:c.336_337del	ENSP00000420647.1:p.Lys113AspfsTer?
NM_004656.3:c.1833_1834del	NP_004647.1:p.Lys612AspfsTer?
XM_011534149.1:c.1833_1834del	XP_011532451.1:p.Lys612AspfsTer?
XM_011534150.1:c.1833_1834del	XP_011532452.1:p.Lys612AspfsTer?
XM_011534151.1:c.1779_1780del	XP_011532453.1:p.Lys594AspfsTer?
XM_011534152.1:c.1833_1834del	XP_011532454.1:p.Lys612AspfsTer15
XM_011534149.3:c.1833_1834del	XP_011532451.1:p.Lys612AspfsTer?
XM_011534150.3:c.1833_1834del	XP_011532452.1:p.Lys612AspfsTer?
XM_011534151.3:c.1779_1780del	XP_011532453.1:p.Lys594AspfsTer?
XM_011534152.2:c.1833_1834del	XP_011532454.1:p.Lys612AspfsTer15
XM_017007303.2:c.1779_1780del	XP_016862792.1:p.Lys594AspfsTer?
NM_004656.4:c.1833_1834del MANE Select	NP_004647.1:p.Lys612AspfsTer?