Canonical Allele Identifier: CA2739279931

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2848716
• ClinVar RCV Id: RCV003644212

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402686_52402687del , CM000665.2:g.52402686_52402687del	GRCh38
NC_000003.11:g.52436702_52436703del , CM000665.1:g.52436702_52436703del	GRCh37
NC_000003.10:g.52411742_52411743del	NCBI36
NG_031859.1:g.12307_12308del , LRG_529:g.12307_12308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1984-13_1984-12del MANE Select	ENSP00000417132.1:n.1984-13_1984-12del
ENST00000296288.9:c.1930-13_1930-12del	ENSP00000296288.5:n.1930-13_1930-12del
ENST00000460680.5:c.1984-13_1984-12del	ENSP00000417132.1:n.1984-13_1984-12del
ENST00000466093.1:n.657-13_657-12del
ENST00000469613.5:c.183-13_183-12del
ENST00000478368.1:c.556-13_556-12del	ENSP00000420647.1:n.556-13_556-12del
NM_004656.3:c.1984-13_1984-12del	NP_004647.1:n.1984-13_1984-12del
XM_011534149.1:c.2053-13_2053-12del	XP_011532451.1:n.2053-13_2053-12del
XM_011534150.1:c.2008-13_2008-12del	XP_011532452.1:n.2008-13_2008-12del
XM_011534151.1:c.1999-13_1999-12del	XP_011532453.1:n.1999-13_1999-12del
XM_011534152.1:c.1939-13_1939-12del	XP_011532454.1:n.1939-13_1939-12del
XM_011534149.3:c.2053-13_2053-12del	XP_011532451.1:n.2053-13_2053-12del
XM_011534150.3:c.2008-13_2008-12del	XP_011532452.1:n.2008-13_2008-12del
XM_011534151.3:c.1999-13_1999-12del	XP_011532453.1:n.1999-13_1999-12del
XM_011534152.2:c.1939-13_1939-12del	XP_011532454.1:n.1939-13_1939-12del
XM_017007303.2:c.1930-13_1930-12del	XP_016862792.1:n.1930-13_1930-12del
NM_004656.4:c.1984-13_1984-12del MANE Select	NP_004647.1:n.1984-13_1984-12del