Canonical Allele Identifier: CA3057227412
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403593_52403594delinsAG , CM000665.2:g.52403593_52403594delinsAG GRCh38
NC_000003.11:g.52437609_52437610delinsAG , CM000665.1:g.52437609_52437610delinsAG GRCh37
NC_000003.10:g.52412649_52412650delinsAG NCBI36
NG_031859.1:g.11400_11401delinsCT , LRG_529:g.11400_11401delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1551_1552delinsCT MANE Select ENSP00000417132.1:p.Arg518Trp
ENST00000296288.9:c.1497_1498delinsCT ENSP00000296288.5:p.Arg500Trp
ENST00000460680.5:c.1551_1552delinsCT ENSP00000417132.1:p.Arg518Trp
ENST00000469613.5:c.119+207_119+208delinsCT
ENST00000478368.1:c.54_55delinsCT ENSP00000420647.1:p.Arg19Trp
NM_004656.3:c.1551_1552delinsCT NP_004647.1:p.Arg518Trp
XM_011534149.1:c.1551_1552delinsCT XP_011532451.1:p.Arg518Trp
XM_011534150.1:c.1551_1552delinsCT XP_011532452.1:p.Arg518Trp
XM_011534151.1:c.1497_1498delinsCT XP_011532453.1:p.Arg500Trp
XM_011534152.1:c.1551_1552delinsCT XP_011532454.1:p.Arg518Trp
XM_011534149.3:c.1551_1552delinsCT XP_011532451.1:p.Arg518Trp
XM_011534150.3:c.1551_1552delinsCT XP_011532452.1:p.Arg518Trp
XM_011534151.3:c.1497_1498delinsCT XP_011532453.1:p.Arg500Trp
XM_011534152.2:c.1551_1552delinsCT XP_011532454.1:p.Arg518Trp
XM_017007303.2:c.1497_1498delinsCT XP_016862792.1:p.Arg500Trp
NM_004656.4:c.1551_1552delinsCT MANE Select NP_004647.1:p.Arg518Trp