Canonical Allele Identifier: CA2697556700

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2774744
• ClinVar RCV Id: RCV003585931

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403493delinsGAT , CM000665.2:g.52403493delinsGAT	GRCh38
NC_000003.11:g.52437509delinsGAT , CM000665.1:g.52437509delinsGAT	GRCh37
NC_000003.10:g.52412549delinsGAT	NCBI36
NG_031859.1:g.11501delinsATC , LRG_529:g.11501delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1652delinsATC MANE Select	ENSP00000417132.1:p.Arg551HisfsTer21
ENST00000296288.9:c.1598delinsATC	ENSP00000296288.5:p.Arg533HisfsTer21
ENST00000460680.5:c.1652delinsATC	ENSP00000417132.1:p.Arg551HisfsTer21
ENST00000466093.1:n.59delinsATC
ENST00000469613.5:c.119+308delinsATC
ENST00000478368.1:c.155delinsATC	ENSP00000420647.1:p.Arg52HisfsTer21
NM_004656.3:c.1652delinsATC	NP_004647.1:p.Arg551HisfsTer21
XM_011534149.1:c.1652delinsATC	XP_011532451.1:p.Arg551HisfsTer21
XM_011534150.1:c.1652delinsATC	XP_011532452.1:p.Arg551HisfsTer21
XM_011534151.1:c.1598delinsATC	XP_011532453.1:p.Arg533HisfsTer21
XM_011534152.1:c.1652delinsATC	XP_011532454.1:p.Arg551HisfsTer21
XM_011534149.3:c.1652delinsATC	XP_011532451.1:p.Arg551HisfsTer21
XM_011534150.3:c.1652delinsATC	XP_011532452.1:p.Arg551HisfsTer21
XM_011534151.3:c.1598delinsATC	XP_011532453.1:p.Arg533HisfsTer21
XM_011534152.2:c.1652delinsATC	XP_011532454.1:p.Arg551HisfsTer21
XM_017007303.2:c.1598delinsATC	XP_016862792.1:p.Arg533HisfsTer21
NM_004656.4:c.1652delinsATC MANE Select	NP_004647.1:p.Arg551HisfsTer21