Canonical Allele Identifier: CA2702828257
Gene: BAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2153226491

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403249del , CM000665.2:g.52403249del GRCh38
NC_000003.11:g.52437265del , CM000665.1:g.52437265del GRCh37
NC_000003.10:g.52412305del NCBI36
NG_031859.1:g.11748del , LRG_529:g.11748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1782del MANE Select ENSP00000417132.1:p.Ser595ProfsTer22
ENST00000296288.9:c.1728del ENSP00000296288.5:p.Ser577ProfsTer22
ENST00000460680.5:c.1782del ENSP00000417132.1:p.Ser595ProfsTer22
ENST00000466093.1:n.189del
ENST00000469613.5:c.120-405del
ENST00000478368.1:c.285del ENSP00000420647.1:p.Ser96ProfsTer22
NM_004656.3:c.1782del NP_004647.1:p.Ser595ProfsTer22
XM_011534149.1:c.1782del XP_011532451.1:p.Ser595ProfsTer22
XM_011534150.1:c.1782del XP_011532452.1:p.Ser595ProfsTer?
XM_011534151.1:c.1728del XP_011532453.1:p.Ser577ProfsTer22
XM_011534152.1:c.1782del XP_011532454.1:p.Ser595ProfsTer27
XM_011534149.3:c.1782del XP_011532451.1:p.Ser595ProfsTer22
XM_011534150.3:c.1782del XP_011532452.1:p.Ser595ProfsTer?
XM_011534151.3:c.1728del XP_011532453.1:p.Ser577ProfsTer22
XM_011534152.2:c.1782del XP_011532454.1:p.Ser595ProfsTer27
XM_017007303.2:c.1728del XP_016862792.1:p.Ser577ProfsTer22
NM_004656.4:c.1782del MANE Select NP_004647.1:p.Ser595ProfsTer22