Canonical Allele Identifier: CA645529901
Gene: BAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403476_52403479del , CM000665.2:g.52403476_52403479del GRCh38
NC_000003.11:g.52437492_52437495del , CM000665.1:g.52437492_52437495del GRCh37
NC_000003.10:g.52412532_52412535del NCBI36
NG_031859.1:g.11515_11518del , LRG_529:g.11515_11518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1666_1669del MANE Select ENSP00000417132.1:p.Val556SerfsTer14
ENST00000296288.9:c.1612_1615del ENSP00000296288.5:p.Val538SerfsTer14
ENST00000460680.5:c.1666_1669del ENSP00000417132.1:p.Val556SerfsTer14
ENST00000466093.1:n.73_76del
ENST00000469613.5:c.119+322_119+325del
ENST00000478368.1:c.169_172del ENSP00000420647.1:p.Val57SerfsTer14
NM_004656.3:c.1666_1669del NP_004647.1:p.Val556SerfsTer14
XM_011534149.1:c.1666_1669del XP_011532451.1:p.Val556SerfsTer14
XM_011534150.1:c.1666_1669del XP_011532452.1:p.Val556SerfsTer14
XM_011534151.1:c.1612_1615del XP_011532453.1:p.Val538SerfsTer14
XM_011534152.1:c.1666_1669del XP_011532454.1:p.Val556SerfsTer14
XM_011534149.3:c.1666_1669del XP_011532451.1:p.Val556SerfsTer14
XM_011534150.3:c.1666_1669del XP_011532452.1:p.Val556SerfsTer14
XM_011534151.3:c.1612_1615del XP_011532453.1:p.Val538SerfsTer14
XM_011534152.2:c.1666_1669del XP_011532454.1:p.Val556SerfsTer14
XM_017007303.2:c.1612_1615del XP_016862792.1:p.Val538SerfsTer14
NM_004656.4:c.1666_1669del MANE Select NP_004647.1:p.Val556SerfsTer14