Canonical Allele Identifier: CA2739292489
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403532del , CM000665.2:g.52403532del GRCh38
NC_000003.11:g.52437548del , CM000665.1:g.52437548del GRCh37
NC_000003.10:g.52412588del NCBI36
NG_031859.1:g.11462del , LRG_529:g.11462del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1613del MANE Select ENSP00000417132.1:p.Leu538ArgfsTer?
ENST00000296288.9:c.1559del ENSP00000296288.5:p.Leu520ArgfsTer?
ENST00000460680.5:c.1613del ENSP00000417132.1:p.Leu538ArgfsTer?
ENST00000466093.1:n.20del
ENST00000469613.5:c.119+269del
ENST00000478368.1:c.116del ENSP00000420647.1:p.Leu39ArgfsTer?
NM_004656.3:c.1613del NP_004647.1:p.Leu538ArgfsTer?
XM_011534149.1:c.1613del XP_011532451.1:p.Leu538ArgfsTer?
XM_011534150.1:c.1613del XP_011532452.1:p.Leu538ArgfsTer?
XM_011534151.1:c.1559del XP_011532453.1:p.Leu520ArgfsTer?
XM_011534152.1:c.1613del XP_011532454.1:p.Leu538ArgfsTer?
XM_011534149.3:c.1613del XP_011532451.1:p.Leu538ArgfsTer?
XM_011534150.3:c.1613del XP_011532452.1:p.Leu538ArgfsTer?
XM_011534151.3:c.1559del XP_011532453.1:p.Leu520ArgfsTer?
XM_011534152.2:c.1613del XP_011532454.1:p.Leu538ArgfsTer?
XM_017007303.2:c.1559del XP_016862792.1:p.Leu520ArgfsTer?
NM_004656.4:c.1613del MANE Select NP_004647.1:p.Leu538ArgfsTer?