Canonical Allele Identifier: CA2573137310

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1362781
• ClinVar RCV Id: RCV001901917
• dbSNP Id: rs2153226493

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403250del , CM000665.2:g.52403250del	GRCh38
NC_000003.11:g.52437266del , CM000665.1:g.52437266del	GRCh37
NC_000003.10:g.52412306del	NCBI36
NG_031859.1:g.11744del , LRG_529:g.11744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1778del MANE Select	ENSP00000417132.1:p.Gln593ArgfsTer24
ENST00000296288.9:c.1724del	ENSP00000296288.5:p.Gln575ArgfsTer24
ENST00000460680.5:c.1778del	ENSP00000417132.1:p.Gln593ArgfsTer24
ENST00000466093.1:n.185del
ENST00000469613.5:c.120-409del
ENST00000478368.1:c.281del	ENSP00000420647.1:p.Gln94ArgfsTer24
NM_004656.3:c.1778del	NP_004647.1:p.Gln593ArgfsTer24
XM_011534149.1:c.1778del	XP_011532451.1:p.Gln593ArgfsTer24
XM_011534150.1:c.1778del	XP_011532452.1:p.Gln593ArgfsTer?
XM_011534151.1:c.1724del	XP_011532453.1:p.Gln575ArgfsTer24
XM_011534152.1:c.1778del	XP_011532454.1:p.Gln593ArgfsTer29
XM_011534149.3:c.1778del	XP_011532451.1:p.Gln593ArgfsTer24
XM_011534150.3:c.1778del	XP_011532452.1:p.Gln593ArgfsTer?
XM_011534151.3:c.1724del	XP_011532453.1:p.Gln575ArgfsTer24
XM_011534152.2:c.1778del	XP_011532454.1:p.Gln593ArgfsTer29
XM_017007303.2:c.1724del	XP_016862792.1:p.Gln575ArgfsTer24
NM_004656.4:c.1778del MANE Select	NP_004647.1:p.Gln593ArgfsTer24