Canonical Allele Identifier: CA16611368
Gene: BAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 412414
ClinVar RCV Id: RCV000472085 RCV000562074
dbSNP Id: rs1060503735
MyVariant Identifiers: chr3:g.52443732del (hg19) chr3:g.52409716del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52409718del , CM000665.2:g.52409718del GRCh38
NC_000003.11:g.52443734del , CM000665.1:g.52443734del GRCh37
NC_000003.10:g.52418774del NCBI36
NG_031859.1:g.5278del , LRG_529:g.5278del

Transcript Alleles

HGVS Amino-acid change
ENST00000460680.6:c.65del MANE Select ENSP00000417132.1:p.Phe22SerfsTer?
ENST00000296288.9:c.65del ENSP00000296288.5:p.Phe22SerfsTer?
ENST00000460680.5:c.65del ENSP00000417132.1:p.Phe22SerfsTer?
ENST00000470173.1:c.-173del ENSP00000417776.1:n.-173del
ENST00000483984.5:n.65del
ENST00000490917.1:c.65del ENSP00000419709.1:p.Phe22SerfsTer?
NM_004656.3:c.65del NP_004647.1:p.Phe22SerfsTer?
XM_011534149.1:c.65del XP_011532451.1:p.Phe22SerfsTer?
XM_011534150.1:c.65del XP_011532452.1:p.Phe22SerfsTer?
XM_011534151.1:c.65del XP_011532453.1:p.Phe22SerfsTer?
XM_011534152.1:c.65del XP_011532454.1:p.Phe22SerfsTer?
XM_011534149.3:c.65del XP_011532451.1:p.Phe22SerfsTer?
XM_011534150.3:c.65del XP_011532452.1:p.Phe22SerfsTer?
XM_011534151.3:c.65del XP_011532453.1:p.Phe22SerfsTer?
XM_011534152.2:c.65del XP_011532454.1:p.Phe22SerfsTer?
XM_017007303.2:c.65del XP_016862792.1:p.Phe22SerfsTer?
NM_004656.4:c.65del MANE Select NP_004647.1:p.Phe22SerfsTer?
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