Canonical Allele Identifier: CA2573130370
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402670_52402672del , CM000665.2:g.52402670_52402672del GRCh38
NC_000003.11:g.52436686_52436688del , CM000665.1:g.52436686_52436688del GRCh37
NC_000003.10:g.52411726_52411728del NCBI36
NG_031859.1:g.12325_12327del , LRG_529:g.12325_12327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1989_1991del MANE Select ENSP00000417132.1:p.Asp664del
ENST00000296288.9:c.1935_1937del ENSP00000296288.5:p.Asp646del
ENST00000460680.5:c.1989_1991del ENSP00000417132.1:p.Asp664del
ENST00000466093.1:n.662_664del
ENST00000469613.5:c.188_190del
ENST00000478368.1:c.561_563del ENSP00000420647.1:p.Asp188del
NM_004656.3:c.1989_1991del NP_004647.1:p.Asp664del
XM_011534149.1:c.2058_2060del XP_011532451.1:p.Asp687del
XM_011534150.1:c.2013_2015del XP_011532452.1:p.Asp672del
XM_011534151.1:c.2004_2006del XP_011532453.1:p.Asp669del
XM_011534152.1:c.1944_1946del XP_011532454.1:p.Asp649del
XM_011534149.3:c.2058_2060del XP_011532451.1:p.Asp687del
XM_011534150.3:c.2013_2015del XP_011532452.1:p.Asp672del
XM_011534151.3:c.2004_2006del XP_011532453.1:p.Asp669del
XM_011534152.2:c.1944_1946del XP_011532454.1:p.Asp649del
XM_017007303.2:c.1935_1937del XP_016862792.1:p.Asp646del
NM_004656.4:c.1989_1991del MANE Select NP_004647.1:p.Asp664del