Canonical Allele Identifier: CA2666008483

Gene: BAP1

Linked Data

• gnomAD v4: 3-52403050-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403052del , CM000665.2:g.52403052del	GRCh38
NC_000003.11:g.52437068del , CM000665.1:g.52437068del	GRCh37
NC_000003.10:g.52412108del	NCBI36
NG_031859.1:g.11943del , LRG_529:g.11943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1890+87del MANE Select	ENSP00000417132.1:n.1890+87del
ENST00000296288.9:c.1836+87del	ENSP00000296288.5:n.1836+87del
ENST00000460680.5:c.1890+87del	ENSP00000417132.1:n.1890+87del
ENST00000466093.1:n.384del
ENST00000469613.5:c.120-210del
ENST00000478368.1:c.393+87del	ENSP00000420647.1:n.393+87del
NM_004656.3:c.1890+87del	NP_004647.1:n.1890+87del
XM_011534149.1:c.1890+87del	XP_011532451.1:n.1890+87del
XM_011534150.1:c.1846-111del	XP_011532452.1:n.1846-111del
XM_011534151.1:c.1836+87del	XP_011532453.1:n.1836+87del
XM_011534152.1:c.1845+132del	XP_011532454.1:n.1845+132del
XM_011534149.3:c.1890+87del	XP_011532451.1:n.1890+87del
XM_011534150.3:c.1846-111del	XP_011532452.1:n.1846-111del
XM_011534151.3:c.1836+87del	XP_011532453.1:n.1836+87del
XM_011534152.2:c.1845+132del	XP_011532454.1:n.1845+132del
XM_017007303.2:c.1836+87del	XP_016862792.1:n.1836+87del
NM_004656.4:c.1890+87del MANE Select	NP_004647.1:n.1890+87del