Canonical Allele Identifier: CA16611330

Gene: BAP1

Linked Data

• ClinVar Variation Id: 412448
• ClinVar RCV Id: RCV000459078
• dbSNP Id: rs1060503748

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403223_52403227delinsACCTC , CM000665.2:g.52403223_52403227delinsACCTC	GRCh38
NC_000003.11:g.52437239_52437243delinsACCTC , CM000665.1:g.52437239_52437243delinsACCTC	GRCh37
NC_000003.10:g.52412279_52412283delinsACCTC	NCBI36
NG_031859.1:g.11767_11771delinsGAGGT , LRG_529:g.11767_11771delinsGAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1801_1805delinsGAGGT MANE Select	ENSP00000417132.1:p.Lys601_Glu602delinsGluVal
ENST00000296288.9:c.1747_1751delinsGAGGT	ENSP00000296288.5:p.Lys583_Glu584delinsGluVal
ENST00000460680.5:c.1801_1805delinsGAGGT	ENSP00000417132.1:p.Lys601_Glu602delinsGluVal
ENST00000466093.1:n.208_212delinsGAGGT
ENST00000469613.5:c.120-386_120-382delinsGAGGT
ENST00000478368.1:c.304_308delinsGAGGT	ENSP00000420647.1:p.Lys102_Glu103delinsGluVal
NM_004656.3:c.1801_1805delinsGAGGT	NP_004647.1:p.Lys601_Glu602delinsGluVal
XM_011534149.1:c.1801_1805delinsGAGGT	XP_011532451.1:p.Lys601_Glu602delinsGluVal
XM_011534150.1:c.1801_1805delinsGAGGT	XP_011532452.1:p.Lys601_Glu602delinsGluVal
XM_011534151.1:c.1747_1751delinsGAGGT	XP_011532453.1:p.Lys583_Glu584delinsGluVal
XM_011534152.1:c.1801_1805delinsGAGGT	XP_011532454.1:p.Lys601_Glu602delinsGluVal
XM_011534149.3:c.1801_1805delinsGAGGT	XP_011532451.1:p.Lys601_Glu602delinsGluVal
XM_011534150.3:c.1801_1805delinsGAGGT	XP_011532452.1:p.Lys601_Glu602delinsGluVal
XM_011534151.3:c.1747_1751delinsGAGGT	XP_011532453.1:p.Lys583_Glu584delinsGluVal
XM_011534152.2:c.1801_1805delinsGAGGT	XP_011532454.1:p.Lys601_Glu602delinsGluVal
XM_017007303.2:c.1747_1751delinsGAGGT	XP_016862792.1:p.Lys583_Glu584delinsGluVal
NM_004656.4:c.1801_1805delinsGAGGT MANE Select	NP_004647.1:p.Lys601_Glu602delinsGluVal