Canonical Allele Identifier: CA2586972728
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402658del , CM000665.2:g.52402658del GRCh38
NC_000003.11:g.52436674del , CM000665.1:g.52436674del GRCh37
NC_000003.10:g.52411714del NCBI36
NG_031859.1:g.12337del , LRG_529:g.12337del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.2001del MANE Select ENSP00000417132.1:p.Thr668ProfsTer24
ENST00000296288.9:c.1947del ENSP00000296288.5:p.Thr650ProfsTer24
ENST00000460680.5:c.2001del ENSP00000417132.1:p.Thr668ProfsTer24
ENST00000466093.1:n.674del
ENST00000469613.5:c.200del
ENST00000478368.1:c.573del ENSP00000420647.1:p.Thr192ProfsTer24
NM_004656.3:c.2001del NP_004647.1:p.Thr668ProfsTer24
XM_011534149.1:c.2070del XP_011532451.1:p.Thr691ProfsTer24
XM_011534150.1:c.2025del XP_011532452.1:p.Thr676ProfsTer24
XM_011534151.1:c.2016del XP_011532453.1:p.Thr673ProfsTer24
XM_011534152.1:c.1956del XP_011532454.1:p.Thr653ProfsTer24
XM_011534149.3:c.2070del XP_011532451.1:p.Thr691ProfsTer24
XM_011534150.3:c.2025del XP_011532452.1:p.Thr676ProfsTer24
XM_011534151.3:c.2016del XP_011532453.1:p.Thr673ProfsTer24
XM_011534152.2:c.1956del XP_011532454.1:p.Thr653ProfsTer24
XM_017007303.2:c.1947del XP_016862792.1:p.Thr650ProfsTer24
NM_004656.4:c.2001del MANE Select NP_004647.1:p.Thr668ProfsTer24