Canonical Allele Identifier: CA2580616480

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2431334
• ClinVar RCV Id: RCV003140394

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403199_52403200dup , CM000665.2:g.52403199_52403200dup	GRCh38
NC_000003.11:g.52437215_52437216dup , CM000665.1:g.52437215_52437216dup	GRCh37
NC_000003.10:g.52412255_52412256dup	NCBI36
NG_031859.1:g.11799_11800dup , LRG_529:g.11799_11800dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1833_1834dup MANE Select	ENSP00000417132.1:p.Lys612ArgfsTer6
ENST00000296288.9:c.1779_1780dup	ENSP00000296288.5:p.Lys594ArgfsTer6
ENST00000460680.5:c.1833_1834dup	ENSP00000417132.1:p.Lys612ArgfsTer6
ENST00000466093.1:n.240_241dup
ENST00000469613.5:c.120-354_120-353dup
ENST00000478368.1:c.336_337dup	ENSP00000420647.1:p.Lys113ArgfsTer6
NM_004656.3:c.1833_1834dup	NP_004647.1:p.Lys612ArgfsTer6
XM_011534149.1:c.1833_1834dup	XP_011532451.1:p.Lys612ArgfsTer6
XM_011534150.1:c.1833_1834dup	XP_011532452.1:p.Lys612ArgfsTer?
XM_011534151.1:c.1779_1780dup	XP_011532453.1:p.Lys594ArgfsTer6
XM_011534152.1:c.1833_1834dup	XP_011532454.1:p.Lys612ArgfsTer11
XM_011534149.3:c.1833_1834dup	XP_011532451.1:p.Lys612ArgfsTer6
XM_011534150.3:c.1833_1834dup	XP_011532452.1:p.Lys612ArgfsTer?
XM_011534151.3:c.1779_1780dup	XP_011532453.1:p.Lys594ArgfsTer6
XM_011534152.2:c.1833_1834dup	XP_011532454.1:p.Lys612ArgfsTer11
XM_017007303.2:c.1779_1780dup	XP_016862792.1:p.Lys594ArgfsTer6
NM_004656.4:c.1833_1834dup MANE Select	NP_004647.1:p.Lys612ArgfsTer6