Canonical Allele Identifier: CA645529887

Gene: BAP1

Linked Data

• ClinVar Variation Id: 628182
• ClinVar RCV Id: RCV000772520 ; RCV001312026 ; RCV001850964
• dbSNP Id: rs1559585778
• COSMIC: COSM4387443

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403145_52403148del , CM000665.2:g.52403145_52403148del	GRCh38
NC_000003.11:g.52437161_52437164del , CM000665.1:g.52437161_52437164del	GRCh37
NC_000003.10:g.52412201_52412204del	NCBI36
NG_031859.1:g.11848_11851del , LRG_529:g.11848_11851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1882_1885del MANE Select	ENSP00000417132.1:p.Ser628ProfsTer8
ENST00000296288.9:c.1828_1831del	ENSP00000296288.5:p.Ser610ProfsTer8
ENST00000460680.5:c.1882_1885del	ENSP00000417132.1:p.Ser628ProfsTer8
ENST00000466093.1:n.289_292del
ENST00000469613.5:c.120-305_120-302del
ENST00000478368.1:c.385_388del	ENSP00000420647.1:p.Ser129ProfsTer?
NM_004656.3:c.1882_1885del	NP_004647.1:p.Ser628ProfsTer8
XM_011534149.1:c.1882_1885del	XP_011532451.1:p.Ser628ProfsTer?
XM_011534150.1:c.1845+37_1845+40del	XP_011532452.1:n.1845+37_1845+40del
XM_011534151.1:c.1828_1831del	XP_011532453.1:p.Ser610ProfsTer?
XM_011534152.1:c.1845+37_1845+40del	XP_011532454.1:n.1845+37_1845+40del
XM_011534149.3:c.1882_1885del	XP_011532451.1:p.Ser628ProfsTer?
XM_011534150.3:c.1845+37_1845+40del	XP_011532452.1:n.1845+37_1845+40del
XM_011534151.3:c.1828_1831del	XP_011532453.1:p.Ser610ProfsTer?
XM_011534152.2:c.1845+37_1845+40del	XP_011532454.1:n.1845+37_1845+40del
XM_017007303.2:c.1828_1831del	XP_016862792.1:p.Ser610ProfsTer8
NM_004656.4:c.1882_1885del MANE Select	NP_004647.1:p.Ser628ProfsTer8