Canonical Allele Identifier: CA645529900

Gene: BAP1

Linked Data

• COSMIC: COSM1732018

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403444_52403445insGA , CM000665.2:g.52403444_52403445insGA	GRCh38
NC_000003.11:g.52437460_52437461insGA , CM000665.1:g.52437460_52437461insGA	GRCh37
NC_000003.10:g.52412500_52412501insGA	NCBI36
NG_031859.1:g.11550_11551insCT , LRG_529:g.11550_11551insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1701_1702insCT MANE Select	ENSP00000417132.1:p.Gly568LeufsTer4
ENST00000296288.9:c.1647_1648insCT	ENSP00000296288.5:p.Gly550LeufsTer4
ENST00000460680.5:c.1701_1702insCT	ENSP00000417132.1:p.Gly568LeufsTer4
ENST00000466093.1:n.108_109insCT
ENST00000469613.5:c.119+357_119+358insCT
ENST00000478368.1:c.204_205insCT	ENSP00000420647.1:p.Gly69LeufsTer4
NM_004656.3:c.1701_1702insCT	NP_004647.1:p.Gly568LeufsTer4
XM_011534149.1:c.1701_1702insCT	XP_011532451.1:p.Gly568LeufsTer4
XM_011534150.1:c.1701_1702insCT	XP_011532452.1:p.Gly568LeufsTer4
XM_011534151.1:c.1647_1648insCT	XP_011532453.1:p.Gly550LeufsTer4
XM_011534152.1:c.1701_1702insCT	XP_011532454.1:p.Gly568LeufsTer4
XM_011534149.3:c.1701_1702insCT	XP_011532451.1:p.Gly568LeufsTer4
XM_011534150.3:c.1701_1702insCT	XP_011532452.1:p.Gly568LeufsTer4
XM_011534151.3:c.1647_1648insCT	XP_011532453.1:p.Gly550LeufsTer4
XM_011534152.2:c.1701_1702insCT	XP_011532454.1:p.Gly568LeufsTer4
XM_017007303.2:c.1647_1648insCT	XP_016862792.1:p.Gly550LeufsTer4
NM_004656.4:c.1701_1702insCT MANE Select	NP_004647.1:p.Gly568LeufsTer4