Canonical Allele Identifier: CA2436687

Gene: BAP1

Linked Data

• dbSNP Id: rs756025904
• ExAC: 3:52436986 G / GCCTA
• gnomAD v2: 3-52436986-G-GCCTA
• MyVariant Identifiers: chr3:g.52436986_52436987insCCTA (hg19) ; chr3:g.52402970_52402971insCCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402971_52402974dup , CM000665.2:g.52402971_52402974dup	GRCh38
NC_000003.11:g.52436987_52436990dup , CM000665.1:g.52436987_52436990dup	GRCh37
NC_000003.10:g.52412027_52412030dup	NCBI36
NG_031859.1:g.12020_12023dup , LRG_529:g.12020_12023dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1891-103_1891-100dup MANE Select	ENSP00000417132.1:n.1891-103_1891-100dup
ENST00000296288.9:c.1837-103_1837-100dup	ENSP00000296288.5:n.1837-103_1837-100dup
ENST00000460680.5:c.1891-103_1891-100dup	ENSP00000417132.1:n.1891-103_1891-100dup
ENST00000466093.1:n.461_464dup
ENST00000469613.5:c.120-133_120-130dup
ENST00000478368.1:c.394-34_394-31dup	ENSP00000420647.1:n.394-34_394-31dup
NM_004656.3:c.1891-103_1891-100dup	NP_004647.1:n.1891-103_1891-100dup
XM_011534149.1:c.1891-34_1891-31dup	XP_011532451.1:n.1891-34_1891-31dup
XM_011534150.1:c.1846-34_1846-31dup	XP_011532452.1:n.1846-34_1846-31dup
XM_011534151.1:c.1837-34_1837-31dup	XP_011532453.1:n.1837-34_1837-31dup
XM_011534152.1:c.1846-103_1846-100dup	XP_011532454.1:n.1846-103_1846-100dup
XM_011534149.3:c.1891-34_1891-31dup	XP_011532451.1:n.1891-34_1891-31dup
XM_011534150.3:c.1846-34_1846-31dup	XP_011532452.1:n.1846-34_1846-31dup
XM_011534151.3:c.1837-34_1837-31dup	XP_011532453.1:n.1837-34_1837-31dup
XM_011534152.2:c.1846-103_1846-100dup	XP_011532454.1:n.1846-103_1846-100dup
XM_017007303.2:c.1837-103_1837-100dup	XP_016862792.1:n.1837-103_1837-100dup
NM_004656.4:c.1891-103_1891-100dup MANE Select	NP_004647.1:n.1891-103_1891-100dup