Canonical Allele Identifier: CA2839319970
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403805dup , CM000665.2:g.52403805dup GRCh38
NC_000003.11:g.52437821dup , CM000665.1:g.52437821dup GRCh37
NC_000003.10:g.52412861dup NCBI36
NG_031859.1:g.11189dup , LRG_529:g.11189dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1340dup MANE Select ENSP00000417132.1:p.Ala449GlyfsTer2
ENST00000296288.9:c.1286dup ENSP00000296288.5:p.Ala431GlyfsTer2
ENST00000460680.5:c.1340dup ENSP00000417132.1:p.Ala449GlyfsTer2
ENST00000469613.5:c.115dup
ENST00000490804.1:n.768dup
NM_004656.3:c.1340dup NP_004647.1:p.Ala449GlyfsTer2
XM_011534149.1:c.1340dup XP_011532451.1:p.Ala449GlyfsTer2
XM_011534150.1:c.1340dup XP_011532452.1:p.Ala449GlyfsTer2
XM_011534151.1:c.1286dup XP_011532453.1:p.Ala431GlyfsTer2
XM_011534152.1:c.1340dup XP_011532454.1:p.Ala449GlyfsTer2
XM_011534149.3:c.1340dup XP_011532451.1:p.Ala449GlyfsTer2
XM_011534150.3:c.1340dup XP_011532452.1:p.Ala449GlyfsTer2
XM_011534151.3:c.1286dup XP_011532453.1:p.Ala431GlyfsTer2
XM_011534152.2:c.1340dup XP_011532454.1:p.Ala449GlyfsTer2
XM_017007303.2:c.1286dup XP_016862792.1:p.Ala431GlyfsTer2
NM_004656.4:c.1340dup MANE Select NP_004647.1:p.Ala449GlyfsTer2