Canonical Allele Identifier: CA915942470

Gene: BAP1

Linked Data

• ClinVar Variation Id: 819430
• ClinVar RCV Id: RCV001011976
• dbSNP Id: rs1578220681

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403632_52403633del , CM000665.2:g.52403632_52403633del	GRCh38
NC_000003.11:g.52437648_52437649del , CM000665.1:g.52437648_52437649del	GRCh37
NC_000003.10:g.52412688_52412689del	NCBI36
NG_031859.1:g.11362_11363del , LRG_529:g.11362_11363del

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1513_1514del MANE Select	ENSP00000417132.1:p.Ser505AlafsTer?
ENST00000296288.9:c.1459_1460del	ENSP00000296288.5:p.Ser487AlafsTer?
ENST00000460680.5:c.1513_1514del	ENSP00000417132.1:p.Ser505AlafsTer?
ENST00000469613.5:c.119+169_119+170del
ENST00000478368.1:c.16_17del	ENSP00000420647.1:p.Ser6AlafsTer?
NM_004656.3:c.1513_1514del	NP_004647.1:p.Ser505AlafsTer?
XM_011534149.1:c.1513_1514del	XP_011532451.1:p.Ser505AlafsTer?
XM_011534150.1:c.1513_1514del	XP_011532452.1:p.Ser505AlafsTer?
XM_011534151.1:c.1459_1460del	XP_011532453.1:p.Ser487AlafsTer?
XM_011534152.1:c.1513_1514del	XP_011532454.1:p.Ser505AlafsTer?
XM_011534149.3:c.1513_1514del	XP_011532451.1:p.Ser505AlafsTer?
XM_011534150.3:c.1513_1514del	XP_011532452.1:p.Ser505AlafsTer?
XM_011534151.3:c.1459_1460del	XP_011532453.1:p.Ser487AlafsTer?
XM_011534152.2:c.1513_1514del	XP_011532454.1:p.Ser505AlafsTer?
XM_017007303.2:c.1459_1460del	XP_016862792.1:p.Ser487AlafsTer?
NM_004656.4:c.1513_1514del MANE Select	NP_004647.1:p.Ser505AlafsTer?