Canonical Allele Identifier: CA645529893

Gene: BAP1

Linked Data

• COSMIC: COSM1169488

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403222_52403241del , CM000665.2:g.52403222_52403241del	GRCh38
NC_000003.11:g.52437238_52437257del , CM000665.1:g.52437238_52437257del	GRCh37
NC_000003.10:g.52412278_52412297del	NCBI36
NG_031859.1:g.11754_11773del , LRG_529:g.11754_11773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1788_1807del MANE Select	ENSP00000417132.1:p.Ser597ArgfsTer?
ENST00000296288.9:c.1734_1753del	ENSP00000296288.5:p.Ser579ArgfsTer?
ENST00000460680.5:c.1788_1807del	ENSP00000417132.1:p.Ser597ArgfsTer?
ENST00000466093.1:n.195_214del
ENST00000469613.5:c.120-399_120-380del
ENST00000478368.1:c.291_310del	ENSP00000420647.1:p.Ser98ArgfsTer?
NM_004656.3:c.1788_1807del	NP_004647.1:p.Ser597ArgfsTer?
XM_011534149.1:c.1788_1807del	XP_011532451.1:p.Ser597ArgfsTer?
XM_011534150.1:c.1788_1807del	XP_011532452.1:p.Ser597ArgfsTer?
XM_011534151.1:c.1734_1753del	XP_011532453.1:p.Ser579ArgfsTer?
XM_011534152.1:c.1788_1807del	XP_011532454.1:p.Ser597ArgfsTer24
XM_011534149.3:c.1788_1807del	XP_011532451.1:p.Ser597ArgfsTer?
XM_011534150.3:c.1788_1807del	XP_011532452.1:p.Ser597ArgfsTer?
XM_011534151.3:c.1734_1753del	XP_011532453.1:p.Ser579ArgfsTer?
XM_011534152.2:c.1788_1807del	XP_011532454.1:p.Ser597ArgfsTer24
XM_017007303.2:c.1734_1753del	XP_016862792.1:p.Ser579ArgfsTer?
NM_004656.4:c.1788_1807del MANE Select	NP_004647.1:p.Ser597ArgfsTer?