Canonical Allele Identifier: CA915942471

Gene: BAP1

Linked Data

• ClinVar Variation Id: 641066
• ClinVar RCV Id: RCV002388428
• dbSNP Id: rs1578220936

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403733_52403734delinsAT , CM000665.2:g.52403733_52403734delinsAT	GRCh38
NC_000003.11:g.52437749_52437750delinsAT , CM000665.1:g.52437749_52437750delinsAT	GRCh37
NC_000003.10:g.52412789_52412790delinsAT	NCBI36
NG_031859.1:g.11260_11261delinsAT , LRG_529:g.11260_11261delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1411_1412delinsAT MANE Select	ENSP00000417132.1:p.Ala471Ile
ENST00000296288.9:c.1357_1358delinsAT	ENSP00000296288.5:p.Ala453Ile
ENST00000460680.5:c.1411_1412delinsAT	ENSP00000417132.1:p.Ala471Ile
ENST00000469613.5:c.119+67_119+68delinsAT
ENST00000490804.1:n.839_840delinsAT
NM_004656.3:c.1411_1412delinsAT	NP_004647.1:p.Ala471Ile
XM_011534149.1:c.1411_1412delinsAT	XP_011532451.1:p.Ala471Ile
XM_011534150.1:c.1411_1412delinsAT	XP_011532452.1:p.Ala471Ile
XM_011534151.1:c.1357_1358delinsAT	XP_011532453.1:p.Ala453Ile
XM_011534152.1:c.1411_1412delinsAT	XP_011532454.1:p.Ala471Ile
XM_011534149.3:c.1411_1412delinsAT	XP_011532451.1:p.Ala471Ile
XM_011534150.3:c.1411_1412delinsAT	XP_011532452.1:p.Ala471Ile
XM_011534151.3:c.1357_1358delinsAT	XP_011532453.1:p.Ala453Ile
XM_011534152.2:c.1411_1412delinsAT	XP_011532454.1:p.Ala471Ile
XM_017007303.2:c.1357_1358delinsAT	XP_016862792.1:p.Ala453Ile
NM_004656.4:c.1411_1412delinsAT MANE Select	NP_004647.1:p.Ala471Ile