Canonical Allele Identifier: CA908132042

Gene: BAP1

Linked Data

• dbSNP Id: rs1237187247
• gnomAD v3: 3-52402520-TCAGGAGAGGC-T
• gnomAD v4: 3-52402520-TCAGGAGAGGC-T
• MyVariant Identifiers: chr3:g.52436537_52436546del (hg19) ; chr3:g.52402521_52402530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402525_52402534del , CM000665.2:g.52402525_52402534del	GRCh38
NC_000003.11:g.52436541_52436550del , CM000665.1:g.52436541_52436550del	GRCh37
NC_000003.10:g.52411581_52411590del	NCBI36
NG_031859.1:g.12464_12473del , LRG_529:g.12464_12473del

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.2056+72_2056+81del MANE Select	ENSP00000417132.1:n.2056+72_2056+81del
ENST00000296288.9:c.2002+72_2002+81del	ENSP00000296288.5:n.2002+72_2002+81del
ENST00000460680.5:c.2056+72_2056+81del	ENSP00000417132.1:n.2056+72_2056+81del
ENST00000466093.1:n.729+72_729+81del
ENST00000469613.5:c.255+72_255+81del
ENST00000478368.1:c.628+72_628+81del	ENSP00000420647.1:n.628+72_628+81del
NM_004656.3:c.2056+72_2056+81del	NP_004647.1:n.2056+72_2056+81del
XM_011534149.1:c.2125+72_2125+81del	XP_011532451.1:n.2125+72_2125+81del
XM_011534150.1:c.2080+72_2080+81del	XP_011532452.1:n.2080+72_2080+81del
XM_011534151.1:c.2071+72_2071+81del	XP_011532453.1:n.2071+72_2071+81del
XM_011534152.1:c.2011+72_2011+81del	XP_011532454.1:n.2011+72_2011+81del
XM_011534149.3:c.2125+72_2125+81del	XP_011532451.1:n.2125+72_2125+81del
XM_011534150.3:c.2080+72_2080+81del	XP_011532452.1:n.2080+72_2080+81del
XM_011534151.3:c.2071+72_2071+81del	XP_011532453.1:n.2071+72_2071+81del
XM_011534152.2:c.2011+72_2011+81del	XP_011532454.1:n.2011+72_2011+81del
XM_017007303.2:c.2002+72_2002+81del	XP_016862792.1:n.2002+72_2002+81del
NM_004656.4:c.2056+72_2056+81del MANE Select	NP_004647.1:n.2056+72_2056+81del