Canonical Allele Identifier: CA645529888

Gene: BAP1

Linked Data

• COSMIC: COSM6023803

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403157_52403160del , CM000665.2:g.52403157_52403160del	GRCh38
NC_000003.11:g.52437173_52437176del , CM000665.1:g.52437173_52437176del	GRCh37
NC_000003.10:g.52412213_52412216del	NCBI36
NG_031859.1:g.11835_11838del , LRG_529:g.11835_11838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1869_1872del MANE Select	ENSP00000417132.1:p.Ser623ArgfsTer13
ENST00000296288.9:c.1815_1818del	ENSP00000296288.5:p.Ser605ArgfsTer13
ENST00000460680.5:c.1869_1872del	ENSP00000417132.1:p.Ser623ArgfsTer13
ENST00000466093.1:n.276_279del
ENST00000469613.5:c.120-318_120-315del
ENST00000478368.1:c.372_375del	ENSP00000420647.1:p.Ser124ArgfsTer?
NM_004656.3:c.1869_1872del	NP_004647.1:p.Ser623ArgfsTer13
XM_011534149.1:c.1869_1872del	XP_011532451.1:p.Ser623ArgfsTer?
XM_011534150.1:c.1845+24_1845+27del	XP_011532452.1:n.1845+24_1845+27del
XM_011534151.1:c.1815_1818del	XP_011532453.1:p.Ser605ArgfsTer?
XM_011534152.1:c.1845+24_1845+27del	XP_011532454.1:n.1845+24_1845+27del
XM_011534149.3:c.1869_1872del	XP_011532451.1:p.Ser623ArgfsTer?
XM_011534150.3:c.1845+24_1845+27del	XP_011532452.1:n.1845+24_1845+27del
XM_011534151.3:c.1815_1818del	XP_011532453.1:p.Ser605ArgfsTer?
XM_011534152.2:c.1845+24_1845+27del	XP_011532454.1:n.1845+24_1845+27del
XM_017007303.2:c.1815_1818del	XP_016862792.1:p.Ser605ArgfsTer13
NM_004656.4:c.1869_1872del MANE Select	NP_004647.1:p.Ser623ArgfsTer13