Canonical Allele Identifier: CA2577782289

Gene: BAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403143del , CM000665.2:g.52403143del	GRCh38
NC_000003.11:g.52437159del , CM000665.1:g.52437159del	GRCh37
NC_000003.10:g.52412199del	NCBI36
NG_031859.1:g.11853del , LRG_529:g.11853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1887del MANE Select	ENSP00000417132.1:p.Lys630ArgfsTer7
ENST00000296288.9:c.1833del	ENSP00000296288.5:p.Lys612ArgfsTer7
ENST00000460680.5:c.1887del	ENSP00000417132.1:p.Lys630ArgfsTer7
ENST00000466093.1:n.294del
ENST00000469613.5:c.120-300del
ENST00000478368.1:c.390del	ENSP00000420647.1:p.Lys131SerfsTer?
NM_004656.3:c.1887del	NP_004647.1:p.Lys630ArgfsTer7
XM_011534149.1:c.1887del	XP_011532451.1:p.Lys630SerfsTer?
XM_011534150.1:c.1845+42del	XP_011532452.1:n.1845+42del
XM_011534151.1:c.1833del	XP_011532453.1:p.Lys612SerfsTer?
XM_011534152.1:c.1845+42del	XP_011532454.1:n.1845+42del
XM_011534149.3:c.1887del	XP_011532451.1:p.Lys630SerfsTer?
XM_011534150.3:c.1845+42del	XP_011532452.1:n.1845+42del
XM_011534151.3:c.1833del	XP_011532453.1:p.Lys612SerfsTer?
XM_011534152.2:c.1845+42del	XP_011532454.1:n.1845+42del
XM_017007303.2:c.1833del	XP_016862792.1:p.Lys612ArgfsTer7
NM_004656.4:c.1887del MANE Select	NP_004647.1:p.Lys630ArgfsTer7