Canonical Allele Identifier: CA1139658110

Gene: BAP1

Linked Data

• ClinVar Variation Id: 921362
• ClinVar RCV Id: RCV001180717
• dbSNP Id: rs1705020162

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403146_52403147delinsC , CM000665.2:g.52403146_52403147delinsC	GRCh38
NC_000003.11:g.52437162_52437163delinsC , CM000665.1:g.52437162_52437163delinsC	GRCh37
NC_000003.10:g.52412202_52412203delinsC	NCBI36
NG_031859.1:g.11847_11848delinsG , LRG_529:g.11847_11848delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1881_1882delinsG MANE Select	ENSP00000417132.1:p.Tyr627Ter
ENST00000296288.9:c.1827_1828delinsG	ENSP00000296288.5:p.Tyr609Ter
ENST00000460680.5:c.1881_1882delinsG	ENSP00000417132.1:p.Tyr627Ter
ENST00000466093.1:n.288_289delinsG
ENST00000469613.5:c.120-306_120-305delinsG
ENST00000478368.1:c.384_385delinsG	ENSP00000420647.1:p.Tyr128Ter
NM_004656.3:c.1881_1882delinsG	NP_004647.1:p.Tyr627Ter
XM_011534149.1:c.1881_1882delinsG	XP_011532451.1:p.Tyr627Ter
XM_011534150.1:c.1845+36_1845+37delinsG	XP_011532452.1:n.1845+36_1845+37delinsG
XM_011534151.1:c.1827_1828delinsG	XP_011532453.1:p.Tyr609Ter
XM_011534152.1:c.1845+36_1845+37delinsG	XP_011532454.1:n.1845+36_1845+37delinsG
XM_011534149.3:c.1881_1882delinsG	XP_011532451.1:p.Tyr627Ter
XM_011534150.3:c.1845+36_1845+37delinsG	XP_011532452.1:n.1845+36_1845+37delinsG
XM_011534151.3:c.1827_1828delinsG	XP_011532453.1:p.Tyr609Ter
XM_011534152.2:c.1845+36_1845+37delinsG	XP_011532454.1:n.1845+36_1845+37delinsG
XM_017007303.2:c.1827_1828delinsG	XP_016862792.1:p.Tyr609Ter
NM_004656.4:c.1881_1882delinsG MANE Select	NP_004647.1:p.Tyr627Ter