Canonical Allele Identifier: CA2739292488
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402384_52402387del , CM000665.2:g.52402384_52402387del GRCh38
NC_000003.11:g.52436400_52436403del , CM000665.1:g.52436400_52436403del GRCh37
NC_000003.10:g.52411440_52411443del NCBI36
NG_031859.1:g.12609_12612del , LRG_529:g.12609_12612del
NG_052911.1:g.91066_91069del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.2093_2096del MANE Select ENSP00000417132.1:p.Val698GlyfsTer?
ENST00000296288.9:c.2039_2042del ENSP00000296288.5:p.Val680GlyfsTer?
ENST00000460680.5:c.2093_2096del ENSP00000417132.1:p.Val698GlyfsTer?
ENST00000466093.1:n.766_769del
ENST00000469613.5:c.292_295del
ENST00000478368.1:c.665_668del ENSP00000420647.1:p.Val222GlyfsTer?
NM_004656.3:c.2093_2096del NP_004647.1:p.Val698GlyfsTer?
XM_011534149.1:c.2162_2165del XP_011532451.1:p.Val721GlyfsTer?
XM_011534150.1:c.2117_2120del XP_011532452.1:p.Val706GlyfsTer?
XM_011534151.1:c.2108_2111del XP_011532453.1:p.Val703GlyfsTer?
XM_011534152.1:c.2048_2051del XP_011532454.1:p.Val683GlyfsTer?
XM_011534149.3:c.2162_2165del XP_011532451.1:p.Val721GlyfsTer?
XM_011534150.3:c.2117_2120del XP_011532452.1:p.Val706GlyfsTer?
XM_011534151.3:c.2108_2111del XP_011532453.1:p.Val703GlyfsTer?
XM_011534152.2:c.2048_2051del XP_011532454.1:p.Val683GlyfsTer?
XM_017007303.2:c.2039_2042del XP_016862792.1:p.Val680GlyfsTer?
NM_004656.4:c.2093_2096del MANE Select NP_004647.1:p.Val698GlyfsTer?