Canonical Allele Identifier: CA433885941

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1332492
• ClinVar RCV Id: RCV001805538
• dbSNP Id: rs2153226476
• gnomAD v4: 3-52403220-ACCT-A
• MyVariant Identifiers: chr3:g.52437237_52437239del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403224_52403226del , CM000665.2:g.52403224_52403226del	GRCh38
NC_000003.11:g.52437240_52437242del , CM000665.1:g.52437240_52437242del	GRCh37
NC_000003.10:g.52412280_52412282del	NCBI36
NG_031859.1:g.11771_11773del , LRG_529:g.11771_11773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1805_1807del MANE Select	ENSP00000417132.1:p.Glu602del
ENST00000296288.9:c.1751_1753del	ENSP00000296288.5:p.Glu584del
ENST00000460680.5:c.1805_1807del	ENSP00000417132.1:p.Glu602del
ENST00000466093.1:n.212_214del
ENST00000469613.5:c.120-382_120-380del
ENST00000478368.1:c.308_310del	ENSP00000420647.1:p.Glu103del
NM_004656.3:c.1805_1807del	NP_004647.1:p.Glu602del
XM_011534149.1:c.1805_1807del	XP_011532451.1:p.Glu602del
XM_011534150.1:c.1805_1807del	XP_011532452.1:p.Glu602del
XM_011534151.1:c.1751_1753del	XP_011532453.1:p.Glu584del
XM_011534152.1:c.1805_1807del	XP_011532454.1:p.Glu602del
XM_011534149.3:c.1805_1807del	XP_011532451.1:p.Glu602del
XM_011534150.3:c.1805_1807del	XP_011532452.1:p.Glu602del
XM_011534151.3:c.1751_1753del	XP_011532453.1:p.Glu584del
XM_011534152.2:c.1805_1807del	XP_011532454.1:p.Glu602del
XM_017007303.2:c.1751_1753del	XP_016862792.1:p.Glu584del
NM_004656.4:c.1805_1807del MANE Select	NP_004647.1:p.Glu602del