Canonical Allele Identifier: CA2666009883

Gene: BAP1

Linked Data

• gnomAD v4: 3-52403444-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403445del , CM000665.2:g.52403445del	GRCh38
NC_000003.11:g.52437461del , CM000665.1:g.52437461del	GRCh37
NC_000003.10:g.52412501del	NCBI36
NG_031859.1:g.11549del , LRG_529:g.11549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1700del MANE Select	ENSP00000417132.1:p.Asp567ValfsTer4
ENST00000296288.9:c.1646del	ENSP00000296288.5:p.Asp549ValfsTer4
ENST00000460680.5:c.1700del	ENSP00000417132.1:p.Asp567ValfsTer4
ENST00000466093.1:n.107del
ENST00000469613.5:c.119+356del
ENST00000478368.1:c.203del	ENSP00000420647.1:p.Asp68ValfsTer4
NM_004656.3:c.1700del	NP_004647.1:p.Asp567ValfsTer4
XM_011534149.1:c.1700del	XP_011532451.1:p.Asp567ValfsTer4
XM_011534150.1:c.1700del	XP_011532452.1:p.Asp567ValfsTer4
XM_011534151.1:c.1646del	XP_011532453.1:p.Asp549ValfsTer4
XM_011534152.1:c.1700del	XP_011532454.1:p.Asp567ValfsTer4
XM_011534149.3:c.1700del	XP_011532451.1:p.Asp567ValfsTer4
XM_011534150.3:c.1700del	XP_011532452.1:p.Asp567ValfsTer4
XM_011534151.3:c.1646del	XP_011532453.1:p.Asp549ValfsTer4
XM_011534152.2:c.1700del	XP_011532454.1:p.Asp567ValfsTer4
XM_017007303.2:c.1646del	XP_016862792.1:p.Asp549ValfsTer4
NM_004656.4:c.1700del MANE Select	NP_004647.1:p.Asp567ValfsTer4