Canonical Allele Identifier: CA2436599

Gene: BAP1

Linked Data

• dbSNP Id: rs773472085
• ExAC: 3:52436448 GT / G
• gnomAD v2: 3-52436448-GT-G
• gnomAD v4: 3-52402432-GT-G
• MyVariant Identifiers: chr3:g.52436449del (hg19) ; chr3:g.52402433del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402433del , CM000665.2:g.52402433del	GRCh38
NC_000003.11:g.52436449del , CM000665.1:g.52436449del	GRCh37
NC_000003.10:g.52411489del	NCBI36
NG_031859.1:g.12561del , LRG_529:g.12561del
NG_052911.1:g.91115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2057-12del MANE Select	ENSP00000417132.1:n.2057-12del
ENST00000296288.9:c.2003-12del	ENSP00000296288.5:n.2003-12del
ENST00000460680.5:c.2057-12del	ENSP00000417132.1:n.2057-12del
ENST00000466093.1:n.730-12del
ENST00000469613.5:c.256-12del
ENST00000478368.1:c.629-12del	ENSP00000420647.1:n.629-12del
NM_004656.3:c.2057-12del	NP_004647.1:n.2057-12del
XM_011534149.1:c.2126-12del	XP_011532451.1:n.2126-12del
XM_011534150.1:c.2081-12del	XP_011532452.1:n.2081-12del
XM_011534151.1:c.2072-12del	XP_011532453.1:n.2072-12del
XM_011534152.1:c.2012-12del	XP_011532454.1:n.2012-12del
XM_011534149.3:c.2126-12del	XP_011532451.1:n.2126-12del
XM_011534150.3:c.2081-12del	XP_011532452.1:n.2081-12del
XM_011534151.3:c.2072-12del	XP_011532453.1:n.2072-12del
XM_011534152.2:c.2012-12del	XP_011532454.1:n.2012-12del
XM_017007303.2:c.2003-12del	XP_016862792.1:n.2003-12del
NM_004656.4:c.2057-12del MANE Select	NP_004647.1:n.2057-12del