Canonical Allele Identifier: CA2586972735

Gene: BAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403248_52403249del , CM000665.2:g.52403248_52403249del	GRCh38
NC_000003.11:g.52437264_52437265del , CM000665.1:g.52437264_52437265del	GRCh37
NC_000003.10:g.52412304_52412305del	NCBI36
NG_031859.1:g.11747_11748del , LRG_529:g.11747_11748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1781_1782del MANE Select	ENSP00000417132.1:p.Gly594ValfsTer?
ENST00000296288.9:c.1727_1728del	ENSP00000296288.5:p.Gly576ValfsTer?
ENST00000460680.5:c.1781_1782del	ENSP00000417132.1:p.Gly594ValfsTer?
ENST00000466093.1:n.188_189del
ENST00000469613.5:c.120-406_120-405del
ENST00000478368.1:c.284_285del	ENSP00000420647.1:p.Gly95ValfsTer?
NM_004656.3:c.1781_1782del	NP_004647.1:p.Gly594ValfsTer?
XM_011534149.1:c.1781_1782del	XP_011532451.1:p.Gly594ValfsTer?
XM_011534150.1:c.1781_1782del	XP_011532452.1:p.Gly594ValfsTer?
XM_011534151.1:c.1727_1728del	XP_011532453.1:p.Gly576ValfsTer?
XM_011534152.1:c.1781_1782del	XP_011532454.1:p.Gly594ValfsTer?
XM_011534149.3:c.1781_1782del	XP_011532451.1:p.Gly594ValfsTer?
XM_011534150.3:c.1781_1782del	XP_011532452.1:p.Gly594ValfsTer?
XM_011534151.3:c.1727_1728del	XP_011532453.1:p.Gly576ValfsTer?
XM_011534152.2:c.1781_1782del	XP_011532454.1:p.Gly594ValfsTer?
XM_017007303.2:c.1727_1728del	XP_016862792.1:p.Gly576ValfsTer?
NM_004656.4:c.1781_1782del MANE Select	NP_004647.1:p.Gly594ValfsTer?