Canonical Allele Identifier: CA2582342857

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2583846
• ClinVar RCV Id: RCV003334768

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403180_52403189dup , CM000665.2:g.52403180_52403189dup	GRCh38
NC_000003.11:g.52437196_52437205dup , CM000665.1:g.52437196_52437205dup	GRCh37
NC_000003.10:g.52412236_52412245dup	NCBI36
NG_031859.1:g.11805_11814dup , LRG_529:g.11805_11814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1839_1848dup MANE Select	ENSP00000417132.1:p.Arg617GlyfsTer29
ENST00000296288.9:c.1785_1794dup	ENSP00000296288.5:p.Arg599GlyfsTer29
ENST00000460680.5:c.1839_1848dup	ENSP00000417132.1:p.Arg617GlyfsTer29
ENST00000466093.1:n.246_255dup
ENST00000469613.5:c.120-348_120-339dup
ENST00000478368.1:c.342_351dup	ENSP00000420647.1:p.Arg118GlyfsTer?
NM_004656.3:c.1839_1848dup	NP_004647.1:p.Arg617GlyfsTer29
XM_011534149.1:c.1839_1848dup	XP_011532451.1:p.Arg617GlyfsTer?
XM_011534150.1:c.1839_1845+3dup
XM_011534151.1:c.1785_1794dup	XP_011532453.1:p.Arg599GlyfsTer?
XM_011534152.1:c.1839_1845+3dup
XM_011534149.3:c.1839_1848dup	XP_011532451.1:p.Arg617GlyfsTer?
XM_011534150.3:c.1839_1845+3dup
XM_011534151.3:c.1785_1794dup	XP_011532453.1:p.Arg599GlyfsTer?
XM_011534152.2:c.1839_1845+3dup
XM_017007303.2:c.1785_1794dup	XP_016862792.1:p.Arg599GlyfsTer29
NM_004656.4:c.1839_1848dup MANE Select	NP_004647.1:p.Arg617GlyfsTer29