Canonical Allele Identifier: CA916081433

Gene: BAP1

Linked Data

• ClinVar Variation Id: 860552
• ClinVar RCV Id: RCV001066872
• dbSNP Id: rs1705000204

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402660_52402662del , CM000665.2:g.52402660_52402662del	GRCh38
NC_000003.11:g.52436676_52436678del , CM000665.1:g.52436676_52436678del	GRCh37
NC_000003.10:g.52411716_52411718del	NCBI36
NG_031859.1:g.12334_12336del , LRG_529:g.12334_12336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1998_2000del MANE Select	ENSP00000417132.1:p.Arg667del
ENST00000296288.9:c.1944_1946del	ENSP00000296288.5:p.Arg649del
ENST00000460680.5:c.1998_2000del	ENSP00000417132.1:p.Arg667del
ENST00000466093.1:n.671_673del
ENST00000469613.5:c.197_199del
ENST00000478368.1:c.570_572del	ENSP00000420647.1:p.Arg191del
NM_004656.3:c.1998_2000del	NP_004647.1:p.Arg667del
XM_011534149.1:c.2067_2069del	XP_011532451.1:p.Arg690del
XM_011534150.1:c.2022_2024del	XP_011532452.1:p.Arg675del
XM_011534151.1:c.2013_2015del	XP_011532453.1:p.Arg672del
XM_011534152.1:c.1953_1955del	XP_011532454.1:p.Arg652del
XM_011534149.3:c.2067_2069del	XP_011532451.1:p.Arg690del
XM_011534150.3:c.2022_2024del	XP_011532452.1:p.Arg675del
XM_011534151.3:c.2013_2015del	XP_011532453.1:p.Arg672del
XM_011534152.2:c.1953_1955del	XP_011532454.1:p.Arg652del
XM_017007303.2:c.1944_1946del	XP_016862792.1:p.Arg649del
NM_004656.4:c.1998_2000del MANE Select	NP_004647.1:p.Arg667del