Canonical Allele Identifier: CA16611329
Gene: BAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 412434
ClinVar RCV Id: RCV000471043
dbSNP Id: rs1060503743

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403194del , CM000665.2:g.52403194del GRCh38
NC_000003.11:g.52437210del , CM000665.1:g.52437210del GRCh37
NC_000003.10:g.52412250del NCBI36
NG_031859.1:g.11801del , LRG_529:g.11801del

Transcript Alleles

HGVS Amino-acid change
ENST00000460680.6:c.1835del MANE Select ENSP00000417132.1:p.Lys612ArgfsTer5
ENST00000296288.9:c.1781del ENSP00000296288.5:p.Lys594ArgfsTer5
ENST00000460680.5:c.1835del ENSP00000417132.1:p.Lys612ArgfsTer5
ENST00000466093.1:n.242del
ENST00000469613.5:c.120-352del
ENST00000478368.1:c.338del ENSP00000420647.1:p.Lys113ArgfsTer5
NM_004656.3:c.1835del NP_004647.1:p.Lys612ArgfsTer5
XM_011534149.1:c.1835del XP_011532451.1:p.Lys612ArgfsTer5
XM_011534150.1:c.1835del XP_011532452.1:p.Lys612ArgfsTer?
XM_011534151.1:c.1781del XP_011532453.1:p.Lys594ArgfsTer5
XM_011534152.1:c.1835del XP_011532454.1:p.Lys612ArgfsTer10
XM_011534149.3:c.1835del XP_011532451.1:p.Lys612ArgfsTer5
XM_011534150.3:c.1835del XP_011532452.1:p.Lys612ArgfsTer?
XM_011534151.3:c.1781del XP_011532453.1:p.Lys594ArgfsTer5
XM_011534152.2:c.1835del XP_011532454.1:p.Lys612ArgfsTer10
XM_017007303.2:c.1781del XP_016862792.1:p.Lys594ArgfsTer5
NM_004656.4:c.1835del MANE Select NP_004647.1:p.Lys612ArgfsTer5