Canonical Allele Identifier: CA543056592

Gene: BAP1

Linked Data

• dbSNP Id: rs1395021877
• gnomAD v2: 3-52437378-TC-T
• gnomAD v3: 3-52403362-TC-T
• gnomAD v4: 3-52403362-TC-T
• MyVariant Identifiers: chr3:g.52437379del (hg19) ; chr3:g.52403363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403365del , CM000665.2:g.52403365del	GRCh38
NC_000003.11:g.52437381del , CM000665.1:g.52437381del	GRCh37
NC_000003.10:g.52412421del	NCBI36
NG_031859.1:g.11631del , LRG_529:g.11631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1729+53del MANE Select	ENSP00000417132.1:n.1729+53del
ENST00000296288.9:c.1675+53del	ENSP00000296288.5:n.1675+53del
ENST00000460680.5:c.1729+53del	ENSP00000417132.1:n.1729+53del
ENST00000466093.1:n.136+53del
ENST00000469613.5:c.119+438del
ENST00000478368.1:c.232+53del	ENSP00000420647.1:n.232+53del
NM_004656.3:c.1729+53del	NP_004647.1:n.1729+53del
XM_011534149.1:c.1729+53del	XP_011532451.1:n.1729+53del
XM_011534150.1:c.1729+53del	XP_011532452.1:n.1729+53del
XM_011534151.1:c.1675+53del	XP_011532453.1:n.1675+53del
XM_011534152.1:c.1729+53del	XP_011532454.1:n.1729+53del
XM_011534149.3:c.1729+53del	XP_011532451.1:n.1729+53del
XM_011534150.3:c.1729+53del	XP_011532452.1:n.1729+53del
XM_011534151.3:c.1675+53del	XP_011532453.1:n.1675+53del
XM_011534152.2:c.1729+53del	XP_011532454.1:n.1729+53del
XM_017007303.2:c.1675+53del	XP_016862792.1:n.1675+53del
NM_004656.4:c.1729+53del MANE Select	NP_004647.1:n.1729+53del