Canonical Allele Identifier: CA2586972737

Gene: BAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403252dup , CM000665.2:g.52403252dup	GRCh38
NC_000003.11:g.52437268dup , CM000665.1:g.52437268dup	GRCh37
NC_000003.10:g.52412308dup	NCBI36
NG_031859.1:g.11743dup , LRG_529:g.11743dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1777dup MANE Select	ENSP00000417132.1:p.Gln593ProfsTer?
ENST00000296288.9:c.1723dup	ENSP00000296288.5:p.Gln575ProfsTer?
ENST00000460680.5:c.1777dup	ENSP00000417132.1:p.Gln593ProfsTer?
ENST00000466093.1:n.184dup
ENST00000469613.5:c.120-410dup
ENST00000478368.1:c.280dup	ENSP00000420647.1:p.Gln94ProfsTer?
NM_004656.3:c.1777dup	NP_004647.1:p.Gln593ProfsTer?
XM_011534149.1:c.1777dup	XP_011532451.1:p.Gln593ProfsTer?
XM_011534150.1:c.1777dup	XP_011532452.1:p.Gln593ProfsTer?
XM_011534151.1:c.1723dup	XP_011532453.1:p.Gln575ProfsTer?
XM_011534152.1:c.1777dup	XP_011532454.1:p.Gln593ProfsTer?
XM_011534149.3:c.1777dup	XP_011532451.1:p.Gln593ProfsTer?
XM_011534150.3:c.1777dup	XP_011532452.1:p.Gln593ProfsTer?
XM_011534151.3:c.1723dup	XP_011532453.1:p.Gln575ProfsTer?
XM_011534152.2:c.1777dup	XP_011532454.1:p.Gln593ProfsTer?
XM_017007303.2:c.1723dup	XP_016862792.1:p.Gln575ProfsTer?
NM_004656.4:c.1777dup MANE Select	NP_004647.1:p.Gln593ProfsTer?