Canonical Allele Identifier: CA2586972745
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403728_52403756del , CM000665.2:g.52403728_52403756del GRCh38
NC_000003.11:g.52437744_52437772del , CM000665.1:g.52437744_52437772del GRCh37
NC_000003.10:g.52412784_52412812del NCBI36
NG_031859.1:g.11242_11270del , LRG_529:g.11242_11270del

Transcript Alleles

HGVS Amino-acid change
ENST00000460680.6:c.1393_1421del MANE Select ENSP00000417132.1:p.Ile465GlyfsTer17
ENST00000296288.9:c.1339_1367del ENSP00000296288.5:p.Ile447GlyfsTer17
ENST00000460680.5:c.1393_1421del ENSP00000417132.1:p.Ile465GlyfsTer17
ENST00000469613.5:c.119+49_119+77del
ENST00000490804.1:n.821_849del
NM_004656.3:c.1393_1421del NP_004647.1:p.Ile465GlyfsTer17
XM_011534149.1:c.1393_1421del XP_011532451.1:p.Ile465GlyfsTer17
XM_011534150.1:c.1393_1421del XP_011532452.1:p.Ile465GlyfsTer17
XM_011534151.1:c.1339_1367del XP_011532453.1:p.Ile447GlyfsTer17
XM_011534152.1:c.1393_1421del XP_011532454.1:p.Ile465GlyfsTer17
XM_011534149.3:c.1393_1421del XP_011532451.1:p.Ile465GlyfsTer17
XM_011534150.3:c.1393_1421del XP_011532452.1:p.Ile465GlyfsTer17
XM_011534151.3:c.1339_1367del XP_011532453.1:p.Ile447GlyfsTer17
XM_011534152.2:c.1393_1421del XP_011532454.1:p.Ile465GlyfsTer17
XM_017007303.2:c.1339_1367del XP_016862792.1:p.Ile447GlyfsTer17
NM_004656.4:c.1393_1421del MANE Select NP_004647.1:p.Ile465GlyfsTer17