Canonical Allele Identifier: CA1364835586

Gene: BAP1

Linked Data

• dbSNP Id: rs1705020807

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403164del , CM000665.2:g.52403164del	GRCh38
NC_000003.11:g.52437180del , CM000665.1:g.52437180del	GRCh37
NC_000003.10:g.52412220del	NCBI36
NG_031859.1:g.11831del , LRG_529:g.11831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1865del MANE Select	ENSP00000417132.1:p.Leu622Ter
ENST00000296288.9:c.1811del	ENSP00000296288.5:p.Leu604Ter
ENST00000460680.5:c.1865del	ENSP00000417132.1:p.Leu622Ter
ENST00000466093.1:n.272del
ENST00000469613.5:c.120-322del
ENST00000478368.1:c.368del	ENSP00000420647.1:p.Leu123Ter
NM_004656.3:c.1865del	NP_004647.1:p.Leu622Ter
XM_011534149.1:c.1865del	XP_011532451.1:p.Leu622Ter
XM_011534150.1:c.1845+20del	XP_011532452.1:n.1845+20del
XM_011534151.1:c.1811del	XP_011532453.1:p.Leu604Ter
XM_011534152.1:c.1845+20del	XP_011532454.1:n.1845+20del
XM_011534149.3:c.1865del	XP_011532451.1:p.Leu622Ter
XM_011534150.3:c.1845+20del	XP_011532452.1:n.1845+20del
XM_011534151.3:c.1811del	XP_011532453.1:p.Leu604Ter
XM_011534152.2:c.1845+20del	XP_011532454.1:n.1845+20del
XM_017007303.2:c.1811del	XP_016862792.1:p.Leu604Ter
NM_004656.4:c.1865del MANE Select	NP_004647.1:p.Leu622Ter