Canonical Allele Identifier: CA2436628

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1113445
• ClinVar RCV Id: RCV001440816 ; RCV001524924
• dbSNP Id: rs766015462
• ExAC: 3:52436699 GAGA / G
• gnomAD v2: 3-52436699-GAGA-G
• gnomAD v4: 3-52402683-GAGA-G
• MyVariant Identifiers: chr3:g.52436700_52436702del (hg19) ; chr3:g.52402685_52402687del (hg38) ; chr3:g.52402684_52402686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402690_52402692del , CM000665.2:g.52402690_52402692del	GRCh38
NC_000003.11:g.52436706_52436708del , CM000665.1:g.52436706_52436708del	GRCh37
NC_000003.10:g.52411746_52411748del	NCBI36
NG_031859.1:g.12308_12310del , LRG_529:g.12308_12310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1984-12_1984-10del MANE Select	ENSP00000417132.1:n.1984-12_1984-10del
ENST00000296288.9:c.1930-12_1930-10del	ENSP00000296288.5:n.1930-12_1930-10del
ENST00000460680.5:c.1984-12_1984-10del	ENSP00000417132.1:n.1984-12_1984-10del
ENST00000466093.1:n.657-12_657-10del
ENST00000469613.5:c.183-12_183-10del
ENST00000478368.1:c.556-12_556-10del	ENSP00000420647.1:n.556-12_556-10del
NM_004656.3:c.1984-12_1984-10del	NP_004647.1:n.1984-12_1984-10del
XM_011534149.1:c.2053-12_2053-10del	XP_011532451.1:n.2053-12_2053-10del
XM_011534150.1:c.2008-12_2008-10del	XP_011532452.1:n.2008-12_2008-10del
XM_011534151.1:c.1999-12_1999-10del	XP_011532453.1:n.1999-12_1999-10del
XM_011534152.1:c.1939-12_1939-10del	XP_011532454.1:n.1939-12_1939-10del
XM_011534149.3:c.2053-12_2053-10del	XP_011532451.1:n.2053-12_2053-10del
XM_011534150.3:c.2008-12_2008-10del	XP_011532452.1:n.2008-12_2008-10del
XM_011534151.3:c.1999-12_1999-10del	XP_011532453.1:n.1999-12_1999-10del
XM_011534152.2:c.1939-12_1939-10del	XP_011532454.1:n.1939-12_1939-10del
XM_017007303.2:c.1930-12_1930-10del	XP_016862792.1:n.1930-12_1930-10del
NM_004656.4:c.1984-12_1984-10del MANE Select	NP_004647.1:n.1984-12_1984-10del