Canonical Allele Identifier: CA2666009035

Gene: BAP1

Linked Data

• gnomAD v4: 3-52403227-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403229_52403231del , CM000665.2:g.52403229_52403231del	GRCh38
NC_000003.11:g.52437245_52437247del , CM000665.1:g.52437245_52437247del	GRCh37
NC_000003.10:g.52412285_52412287del	NCBI36
NG_031859.1:g.11764_11766del , LRG_529:g.11764_11766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1798_1800del MANE Select	ENSP00000417132.1:p.Glu600del
ENST00000296288.9:c.1744_1746del	ENSP00000296288.5:p.Glu582del
ENST00000460680.5:c.1798_1800del	ENSP00000417132.1:p.Glu600del
ENST00000466093.1:n.205_207del
ENST00000469613.5:c.120-389_120-387del
ENST00000478368.1:c.301_303del	ENSP00000420647.1:p.Glu101del
NM_004656.3:c.1798_1800del	NP_004647.1:p.Glu600del
XM_011534149.1:c.1798_1800del	XP_011532451.1:p.Glu600del
XM_011534150.1:c.1798_1800del	XP_011532452.1:p.Glu600del
XM_011534151.1:c.1744_1746del	XP_011532453.1:p.Glu582del
XM_011534152.1:c.1798_1800del	XP_011532454.1:p.Glu600del
XM_011534149.3:c.1798_1800del	XP_011532451.1:p.Glu600del
XM_011534150.3:c.1798_1800del	XP_011532452.1:p.Glu600del
XM_011534151.3:c.1744_1746del	XP_011532453.1:p.Glu582del
XM_011534152.2:c.1798_1800del	XP_011532454.1:p.Glu600del
XM_017007303.2:c.1744_1746del	XP_016862792.1:p.Glu582del
NM_004656.4:c.1798_1800del MANE Select	NP_004647.1:p.Glu600del