Canonical Allele Identifier: CA2517578495
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403017del , CM000665.2:g.52403017del GRCh38
NC_000003.11:g.52437033del , CM000665.1:g.52437033del GRCh37
NC_000003.10:g.52412073del NCBI36
NG_031859.1:g.11977del , LRG_529:g.11977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1890+121del MANE Select ENSP00000417132.1:n.1890+121del
ENST00000296288.9:c.1836+121del ENSP00000296288.5:n.1836+121del
ENST00000460680.5:c.1890+121del ENSP00000417132.1:n.1890+121del
ENST00000466093.1:n.418del
ENST00000469613.5:c.120-176del
ENST00000478368.1:c.394-77del ENSP00000420647.1:n.394-77del
NM_004656.3:c.1890+121del NP_004647.1:n.1890+121del
XM_011534149.1:c.1891-77del XP_011532451.1:n.1891-77del
XM_011534150.1:c.1846-77del XP_011532452.1:n.1846-77del
XM_011534151.1:c.1837-77del XP_011532453.1:n.1837-77del
XM_011534152.1:c.1846-146del XP_011532454.1:n.1846-146del
XM_011534149.3:c.1891-77del XP_011532451.1:n.1891-77del
XM_011534150.3:c.1846-77del XP_011532452.1:n.1846-77del
XM_011534151.3:c.1837-77del XP_011532453.1:n.1837-77del
XM_011534152.2:c.1846-146del XP_011532454.1:n.1846-146del
XM_017007303.2:c.1836+121del XP_016862792.1:n.1836+121del
NM_004656.4:c.1890+121del MANE Select NP_004647.1:n.1890+121del