Canonical Allele Identifier: CA2702827543
Gene: BAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2153226482

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403231del , CM000665.2:g.52403231del GRCh38
NC_000003.11:g.52437247del , CM000665.1:g.52437247del GRCh37
NC_000003.10:g.52412287del NCBI36
NG_031859.1:g.11764del , LRG_529:g.11764del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1798del MANE Select ENSP00000417132.1:p.Glu600ArgfsTer17
ENST00000296288.9:c.1744del ENSP00000296288.5:p.Glu582ArgfsTer17
ENST00000460680.5:c.1798del ENSP00000417132.1:p.Glu600ArgfsTer17
ENST00000466093.1:n.205del
ENST00000469613.5:c.120-389del
ENST00000478368.1:c.301del ENSP00000420647.1:p.Glu101ArgfsTer17
NM_004656.3:c.1798del NP_004647.1:p.Glu600ArgfsTer17
XM_011534149.1:c.1798del XP_011532451.1:p.Glu600ArgfsTer17
XM_011534150.1:c.1798del XP_011532452.1:p.Glu600ArgfsTer?
XM_011534151.1:c.1744del XP_011532453.1:p.Glu582ArgfsTer17
XM_011534152.1:c.1798del XP_011532454.1:p.Glu600ArgfsTer22
XM_011534149.3:c.1798del XP_011532451.1:p.Glu600ArgfsTer17
XM_011534150.3:c.1798del XP_011532452.1:p.Glu600ArgfsTer?
XM_011534151.3:c.1744del XP_011532453.1:p.Glu582ArgfsTer17
XM_011534152.2:c.1798del XP_011532454.1:p.Glu600ArgfsTer22
XM_017007303.2:c.1744del XP_016862792.1:p.Glu582ArgfsTer17
NM_004656.4:c.1798del MANE Select NP_004647.1:p.Glu600ArgfsTer17