Canonical Allele Identifier: CA2580070209

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1781621
• ClinVar RCV Id: RCV002415038 ; RCV003336718

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403159del , CM000665.2:g.52403159del	GRCh38
NC_000003.11:g.52437175del , CM000665.1:g.52437175del	GRCh37
NC_000003.10:g.52412215del	NCBI36
NG_031859.1:g.11835del , LRG_529:g.11835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1869del MANE Select	ENSP00000417132.1:p.Ser623ArgfsTer14
ENST00000296288.9:c.1815del	ENSP00000296288.5:p.Ser605ArgfsTer14
ENST00000460680.5:c.1869del	ENSP00000417132.1:p.Ser623ArgfsTer14
ENST00000466093.1:n.276del
ENST00000469613.5:c.120-318del
ENST00000478368.1:c.372del	ENSP00000420647.1:p.Ser124ArgfsTer?
NM_004656.3:c.1869del	NP_004647.1:p.Ser623ArgfsTer14
XM_011534149.1:c.1869del	XP_011532451.1:p.Ser623ArgfsTer?
XM_011534150.1:c.1845+24del	XP_011532452.1:n.1845+24del
XM_011534151.1:c.1815del	XP_011532453.1:p.Ser605ArgfsTer?
XM_011534152.1:c.1845+24del	XP_011532454.1:n.1845+24del
XM_011534149.3:c.1869del	XP_011532451.1:p.Ser623ArgfsTer?
XM_011534150.3:c.1845+24del	XP_011532452.1:n.1845+24del
XM_011534151.3:c.1815del	XP_011532453.1:p.Ser605ArgfsTer?
XM_011534152.2:c.1845+24del	XP_011532454.1:n.1845+24del
XM_017007303.2:c.1815del	XP_016862792.1:p.Ser605ArgfsTer14
NM_004656.4:c.1869del MANE Select	NP_004647.1:p.Ser623ArgfsTer14