Canonical Allele Identifier: CA645529891

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1995559
• ClinVar RCV Id: RCV002819342
• COSMIC: COSM5945959

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403189del , CM000665.2:g.52403189del	GRCh38
NC_000003.11:g.52437205del , CM000665.1:g.52437205del	GRCh37
NC_000003.10:g.52412245del	NCBI36
NG_031859.1:g.11808del , LRG_529:g.11808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1842del MANE Select	ENSP00000417132.1:p.Met615TrpfsTer2
ENST00000296288.9:c.1788del	ENSP00000296288.5:p.Met597TrpfsTer2
ENST00000460680.5:c.1842del	ENSP00000417132.1:p.Met615TrpfsTer2
ENST00000466093.1:n.249del
ENST00000469613.5:c.120-345del
ENST00000478368.1:c.345del	ENSP00000420647.1:p.Met116TrpfsTer2
NM_004656.3:c.1842del	NP_004647.1:p.Met615TrpfsTer2
XM_011534149.1:c.1842del	XP_011532451.1:p.Met615TrpfsTer2
XM_011534150.1:c.1842del	XP_011532452.1:p.Met615CysfsTer?
XM_011534151.1:c.1788del	XP_011532453.1:p.Met597TrpfsTer2
XM_011534152.1:c.1842del	XP_011532454.1:p.Met615TrpfsTer7
XM_011534149.3:c.1842del	XP_011532451.1:p.Met615TrpfsTer2
XM_011534150.3:c.1842del	XP_011532452.1:p.Met615CysfsTer?
XM_011534151.3:c.1788del	XP_011532453.1:p.Met597TrpfsTer2
XM_011534152.2:c.1842del	XP_011532454.1:p.Met615TrpfsTer7
XM_017007303.2:c.1788del	XP_016862792.1:p.Met597TrpfsTer2
NM_004656.4:c.1842del MANE Select	NP_004647.1:p.Met615TrpfsTer2