Canonical Allele Identifier: CA2580070219

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1779671
• ClinVar RCV Id: RCV002407636

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403265_52403266insAATTG , CM000665.2:g.52403265_52403266insAATTG	GRCh38
NC_000003.11:g.52437281_52437282insAATTG , CM000665.1:g.52437281_52437282insAATTG	GRCh37
NC_000003.10:g.52412321_52412322insAATTG	NCBI36
NG_031859.1:g.11732_11733insTCAAT , LRG_529:g.11732_11733insTCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1766_1767insTCAAT MANE Select	ENSP00000417132.1:p.Gly591SerfsTer28
ENST00000296288.9:c.1712_1713insTCAAT	ENSP00000296288.5:p.Gly573SerfsTer28
ENST00000460680.5:c.1766_1767insTCAAT	ENSP00000417132.1:p.Gly591SerfsTer28
ENST00000466093.1:n.173_174insTCAAT
ENST00000469613.5:c.120-421_120-420insTCAAT
ENST00000478368.1:c.269_270insTCAAT	ENSP00000420647.1:p.Gly92SerfsTer28
NM_004656.3:c.1766_1767insTCAAT	NP_004647.1:p.Gly591SerfsTer28
XM_011534149.1:c.1766_1767insTCAAT	XP_011532451.1:p.Gly591SerfsTer28
XM_011534150.1:c.1766_1767insTCAAT	XP_011532452.1:p.Gly591SerfsTer?
XM_011534151.1:c.1712_1713insTCAAT	XP_011532453.1:p.Gly573SerfsTer28
XM_011534152.1:c.1766_1767insTCAAT	XP_011532454.1:p.Gly591SerfsTer?
XM_011534149.3:c.1766_1767insTCAAT	XP_011532451.1:p.Gly591SerfsTer28
XM_011534150.3:c.1766_1767insTCAAT	XP_011532452.1:p.Gly591SerfsTer?
XM_011534151.3:c.1712_1713insTCAAT	XP_011532453.1:p.Gly573SerfsTer28
XM_011534152.2:c.1766_1767insTCAAT	XP_011532454.1:p.Gly591SerfsTer?
XM_017007303.2:c.1712_1713insTCAAT	XP_016862792.1:p.Gly573SerfsTer28
NM_004656.4:c.1766_1767insTCAAT MANE Select	NP_004647.1:p.Gly591SerfsTer28