Canonical Allele Identifier: CA1047968439

Gene: BAP1

Linked Data

• gnomAD v3: 3-52402469-AGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGG-A
• gnomAD v4: 3-52402469-AGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402478_52402547del , CM000665.2:g.52402478_52402547del	GRCh38
NC_000003.11:g.52436494_52436563del , CM000665.1:g.52436494_52436563del	GRCh37
NC_000003.10:g.52411534_52411603del	NCBI36
NG_031859.1:g.12455_12524del , LRG_529:g.12455_12524del

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.2056+63_2057-49del MANE Select	ENSP00000417132.1:n.2056+63_2057-49del
ENST00000296288.9:c.2002+63_2003-49del	ENSP00000296288.5:n.2002+63_2003-49del
ENST00000460680.5:c.2056+63_2057-49del	ENSP00000417132.1:n.2056+63_2057-49del
ENST00000466093.1:n.729+63_730-49del
ENST00000469613.5:c.255+63_256-49del
ENST00000478368.1:c.628+63_629-49del	ENSP00000420647.1:n.628+63_629-49del
NM_004656.3:c.2056+63_2057-49del	NP_004647.1:n.2056+63_2057-49del
XM_011534149.1:c.2125+63_2126-49del	XP_011532451.1:n.2125+63_2126-49del
XM_011534150.1:c.2080+63_2081-49del	XP_011532452.1:n.2080+63_2081-49del
XM_011534151.1:c.2071+63_2072-49del	XP_011532453.1:n.2071+63_2072-49del
XM_011534152.1:c.2011+63_2012-49del	XP_011532454.1:n.2011+63_2012-49del
XM_011534149.3:c.2125+63_2126-49del	XP_011532451.1:n.2125+63_2126-49del
XM_011534150.3:c.2080+63_2081-49del	XP_011532452.1:n.2080+63_2081-49del
XM_011534151.3:c.2071+63_2072-49del	XP_011532453.1:n.2071+63_2072-49del
XM_011534152.2:c.2011+63_2012-49del	XP_011532454.1:n.2011+63_2012-49del
XM_017007303.2:c.2002+63_2003-49del	XP_016862792.1:n.2002+63_2003-49del
NM_004656.4:c.2056+63_2057-49del MANE Select	NP_004647.1:n.2056+63_2057-49del