Canonical Allele Identifier: CA1364835574
Gene: BAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1705020428

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403152del , CM000665.2:g.52403152del GRCh38
NC_000003.11:g.52437168del , CM000665.1:g.52437168del GRCh37
NC_000003.10:g.52412208del NCBI36
NG_031859.1:g.11844del , LRG_529:g.11844del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1878del MANE Select ENSP00000417132.1:p.Lys626AsnfsTer11
ENST00000296288.9:c.1824del ENSP00000296288.5:p.Lys608AsnfsTer11
ENST00000460680.5:c.1878del ENSP00000417132.1:p.Lys626AsnfsTer11
ENST00000466093.1:n.285del
ENST00000469613.5:c.120-309del
ENST00000478368.1:c.381del ENSP00000420647.1:p.Lys127AsnfsTer?
NM_004656.3:c.1878del NP_004647.1:p.Lys626AsnfsTer11
XM_011534149.1:c.1878del XP_011532451.1:p.Lys626AsnfsTer?
XM_011534150.1:c.1845+33del XP_011532452.1:n.1845+33del
XM_011534151.1:c.1824del XP_011532453.1:p.Lys608AsnfsTer?
XM_011534152.1:c.1845+33del XP_011532454.1:n.1845+33del
XM_011534149.3:c.1878del XP_011532451.1:p.Lys626AsnfsTer?
XM_011534150.3:c.1845+33del XP_011532452.1:n.1845+33del
XM_011534151.3:c.1824del XP_011532453.1:p.Lys608AsnfsTer?
XM_011534152.2:c.1845+33del XP_011532454.1:n.1845+33del
XM_017007303.2:c.1824del XP_016862792.1:p.Lys608AsnfsTer11
NM_004656.4:c.1878del MANE Select NP_004647.1:p.Lys626AsnfsTer11