Canonical Allele Identifier: CA645529890

Gene: BAP1

Linked Data

• COSMIC: COSM584260

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403164_52403165delinsTA , CM000665.2:g.52403164_52403165delinsTA	GRCh38
NC_000003.11:g.52437180_52437181delinsTA , CM000665.1:g.52437180_52437181delinsTA	GRCh37
NC_000003.10:g.52412220_52412221delinsTA	NCBI36
NG_031859.1:g.11829_11830delinsTA , LRG_529:g.11829_11830delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1863_1864delinsTA MANE Select	ENSP00000417132.1:p.Leu622Met
ENST00000296288.9:c.1809_1810delinsTA	ENSP00000296288.5:p.Leu604Met
ENST00000460680.5:c.1863_1864delinsTA	ENSP00000417132.1:p.Leu622Met
ENST00000466093.1:n.270_271delinsTA
ENST00000469613.5:c.120-324_120-323delinsTA
ENST00000478368.1:c.366_367delinsTA	ENSP00000420647.1:p.Leu123Met
NM_004656.3:c.1863_1864delinsTA	NP_004647.1:p.Leu622Met
XM_011534149.1:c.1863_1864delinsTA	XP_011532451.1:p.Leu622Met
XM_011534150.1:c.1845+18_1845+19delinsTA	XP_011532452.1:n.1845+18_1845+19delinsTA
XM_011534151.1:c.1809_1810delinsTA	XP_011532453.1:p.Leu604Met
XM_011534152.1:c.1845+18_1845+19delinsTA	XP_011532454.1:n.1845+18_1845+19delinsTA
XM_011534149.3:c.1863_1864delinsTA	XP_011532451.1:p.Leu622Met
XM_011534150.3:c.1845+18_1845+19delinsTA	XP_011532452.1:n.1845+18_1845+19delinsTA
XM_011534151.3:c.1809_1810delinsTA	XP_011532453.1:p.Leu604Met
XM_011534152.2:c.1845+18_1845+19delinsTA	XP_011532454.1:n.1845+18_1845+19delinsTA
XM_017007303.2:c.1809_1810delinsTA	XP_016862792.1:p.Leu604Met
NM_004656.4:c.1863_1864delinsTA MANE Select	NP_004647.1:p.Leu622Met