Canonical Allele Identifier: CA2756265883
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403447_52403449del , CM000665.2:g.52403447_52403449del GRCh38
NC_000003.11:g.52437463_52437465del , CM000665.1:g.52437463_52437465del GRCh37
NC_000003.10:g.52412503_52412505del NCBI36
NG_031859.1:g.11547_11549del , LRG_529:g.11547_11549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1698_1700del MANE Select ENSP00000417132.1:p.Glu566del
ENST00000296288.9:c.1644_1646del ENSP00000296288.5:p.Glu548del
ENST00000460680.5:c.1698_1700del ENSP00000417132.1:p.Glu566del
ENST00000466093.1:n.105_107del
ENST00000469613.5:c.119+354_119+356del
ENST00000478368.1:c.201_203del ENSP00000420647.1:p.Glu67del
NM_004656.3:c.1698_1700del NP_004647.1:p.Glu566del
XM_011534149.1:c.1698_1700del XP_011532451.1:p.Glu566del
XM_011534150.1:c.1698_1700del XP_011532452.1:p.Glu566del
XM_011534151.1:c.1644_1646del XP_011532453.1:p.Glu548del
XM_011534152.1:c.1698_1700del XP_011532454.1:p.Glu566del
XM_011534149.3:c.1698_1700del XP_011532451.1:p.Glu566del
XM_011534150.3:c.1698_1700del XP_011532452.1:p.Glu566del
XM_011534151.3:c.1644_1646del XP_011532453.1:p.Glu548del
XM_011534152.2:c.1698_1700del XP_011532454.1:p.Glu566del
XM_017007303.2:c.1644_1646del XP_016862792.1:p.Glu548del
NM_004656.4:c.1698_1700del MANE Select NP_004647.1:p.Glu566del