Canonical Allele Identifier: CA2838031929
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403695del , CM000665.2:g.52403695del GRCh38
NC_000003.11:g.52437711del , CM000665.1:g.52437711del GRCh37
NC_000003.10:g.52412751del NCBI36
NG_031859.1:g.11301del , LRG_529:g.11301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1452del MANE Select ENSP00000417132.1:p.Ser485HisfsTer?
ENST00000296288.9:c.1398del ENSP00000296288.5:p.Ser467HisfsTer?
ENST00000460680.5:c.1452del ENSP00000417132.1:p.Ser485HisfsTer?
ENST00000469613.5:c.119+108del
NM_004656.3:c.1452del NP_004647.1:p.Ser485HisfsTer?
XM_011534149.1:c.1452del XP_011532451.1:p.Ser485HisfsTer?
XM_011534150.1:c.1452del XP_011532452.1:p.Ser485HisfsTer?
XM_011534151.1:c.1398del XP_011532453.1:p.Ser467HisfsTer?
XM_011534152.1:c.1452del XP_011532454.1:p.Ser485HisfsTer?
XM_011534149.3:c.1452del XP_011532451.1:p.Ser485HisfsTer?
XM_011534150.3:c.1452del XP_011532452.1:p.Ser485HisfsTer?
XM_011534151.3:c.1398del XP_011532453.1:p.Ser467HisfsTer?
XM_011534152.2:c.1452del XP_011532454.1:p.Ser485HisfsTer?
XM_017007303.2:c.1398del XP_016862792.1:p.Ser467HisfsTer?
NM_004656.4:c.1452del MANE Select NP_004647.1:p.Ser485HisfsTer?