Canonical Allele Identifier: CA16611337
Gene: BAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 412409
ClinVar RCV Id: RCV000475581
dbSNP Id: rs1060503731
MyVariant Identifiers: chr3:g.52437745del (hg19) chr3:g.52403729del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403731del , CM000665.2:g.52403731del GRCh38
NC_000003.11:g.52437747del , CM000665.1:g.52437747del GRCh37
NC_000003.10:g.52412787del NCBI36
NG_031859.1:g.11265del , LRG_529:g.11265del

Transcript Alleles

HGVS Amino-acid change
ENST00000460680.6:c.1416del MANE Select ENSP00000417132.1:p.Ser473ValfsTer?
ENST00000296288.9:c.1362del ENSP00000296288.5:p.Ser455ValfsTer?
ENST00000460680.5:c.1416del ENSP00000417132.1:p.Ser473ValfsTer?
ENST00000469613.5:c.119+72del
ENST00000490804.1:n.844del
NM_004656.3:c.1416del NP_004647.1:p.Ser473ValfsTer?
XM_011534149.1:c.1416del XP_011532451.1:p.Ser473ValfsTer?
XM_011534150.1:c.1416del XP_011532452.1:p.Ser473ValfsTer?
XM_011534151.1:c.1362del XP_011532453.1:p.Ser455ValfsTer?
XM_011534152.1:c.1416del XP_011532454.1:p.Ser473ValfsTer?
XM_011534149.3:c.1416del XP_011532451.1:p.Ser473ValfsTer?
XM_011534150.3:c.1416del XP_011532452.1:p.Ser473ValfsTer?
XM_011534151.3:c.1362del XP_011532453.1:p.Ser455ValfsTer?
XM_011534152.2:c.1416del XP_011532454.1:p.Ser473ValfsTer?
XM_017007303.2:c.1362del XP_016862792.1:p.Ser455ValfsTer?
NM_004656.4:c.1416del MANE Select NP_004647.1:p.Ser473ValfsTer?
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