Canonical Allele Identifier: CA2697556702

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2770200
• ClinVar RCV Id: RCV003527938

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403639dup , CM000665.2:g.52403639dup	GRCh38
NC_000003.11:g.52437655dup , CM000665.1:g.52437655dup	GRCh37
NC_000003.10:g.52412695dup	NCBI36
NG_031859.1:g.11357dup , LRG_529:g.11357dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1508dup MANE Select	ENSP00000417132.1:p.Asn504GlnfsTer?
ENST00000296288.9:c.1454dup	ENSP00000296288.5:p.Asn486GlnfsTer?
ENST00000460680.5:c.1508dup	ENSP00000417132.1:p.Asn504GlnfsTer?
ENST00000469613.5:c.119+164dup
ENST00000478368.1:c.11dup	ENSP00000420647.1:p.Asn5GlnfsTer?
NM_004656.3:c.1508dup	NP_004647.1:p.Asn504GlnfsTer?
XM_011534149.1:c.1508dup	XP_011532451.1:p.Asn504GlnfsTer?
XM_011534150.1:c.1508dup	XP_011532452.1:p.Asn504GlnfsTer?
XM_011534151.1:c.1454dup	XP_011532453.1:p.Asn486GlnfsTer?
XM_011534152.1:c.1508dup	XP_011532454.1:p.Asn504GlnfsTer?
XM_011534149.3:c.1508dup	XP_011532451.1:p.Asn504GlnfsTer?
XM_011534150.3:c.1508dup	XP_011532452.1:p.Asn504GlnfsTer?
XM_011534151.3:c.1454dup	XP_011532453.1:p.Asn486GlnfsTer?
XM_011534152.2:c.1508dup	XP_011532454.1:p.Asn504GlnfsTer?
XM_017007303.2:c.1454dup	XP_016862792.1:p.Asn486GlnfsTer?
NM_004656.4:c.1508dup MANE Select	NP_004647.1:p.Asn504GlnfsTer?