Canonical Allele Identifier: CA3260634654

Gene: BAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402606_52402608delinsTTC , CM000665.2:g.52402606_52402608delinsTTC	GRCh38
NC_000003.11:g.52436622_52436624delinsTTC , CM000665.1:g.52436622_52436624delinsTTC	GRCh37
NC_000003.10:g.52411662_52411664delinsTTC	NCBI36
NG_031859.1:g.12386_12388delinsGAA , LRG_529:g.12386_12388delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
NM_004656.4:c.2050_2052delinsGAA MANE Select	NP_004647.1:p.Gln684Glu
ENST00000460680.6:c.2050_2052delinsGAA MANE Select	ENSP00000417132.1:p.Gln684Glu
NM_004656.3:c.2050_2052delinsGAA	NP_004647.1:p.Gln684Glu
ENST00000296288.9:c.1996_1998delinsGAA	ENSP00000296288.5:p.Gln666Glu
ENST00000460680.5:c.2050_2052delinsGAA	ENSP00000417132.1:p.Gln684Glu
ENST00000466093.1:n.723_725delinsGAA
ENST00000469613.5:c.249_251delinsGAA
ENST00000478368.1:c.622_624delinsGAA	ENSP00000420647.1:p.Gln208Glu
XM_011534149.1:c.2119_2121delinsGAA	XP_011532451.1:p.Gln707Glu
XM_011534149.3:c.2119_2121delinsGAA	XP_011532451.1:p.Gln707Glu
XM_011534150.1:c.2074_2076delinsGAA	XP_011532452.1:p.Gln692Glu
XM_011534150.3:c.2074_2076delinsGAA	XP_011532452.1:p.Gln692Glu
XM_011534151.1:c.2065_2067delinsGAA	XP_011532453.1:p.Gln689Glu
XM_011534151.3:c.2065_2067delinsGAA	XP_011532453.1:p.Gln689Glu
XM_011534152.1:c.2005_2007delinsGAA	XP_011532454.1:p.Gln669Glu
XM_011534152.2:c.2005_2007delinsGAA	XP_011532454.1:p.Gln669Glu
XM_017007303.2:c.1996_1998delinsGAA	XP_016862792.1:p.Gln666Glu