Canonical Allele Identifier: CA1364834741
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402520_52402530delinsTCAGGAGAGGC , CM000665.2:g.52402520_52402530delinsTCAGGAGAGGC GRCh38
NC_000003.11:g.52436536_52436546delinsTCAGGAGAGGC , CM000665.1:g.52436536_52436546delinsTCAGGAGAGGC GRCh37
NC_000003.10:g.52411576_52411586delinsTCAGGAGAGGC NCBI36
NG_031859.1:g.12464_12474delinsGCCTCTCCTGA , LRG_529:g.12464_12474delinsGCCTCTCCTGA

Transcript Alleles

HGVS Amino-acid change
ENST00000460680.6:c.2056+72_2056+82delinsGCCTCTCCTGA MANE Select ENSP00000417132.1:n.2056+72_2056+82delins...
ENST00000296288.9:c.2002+72_2002+82delinsGCCTCTCCTGA ENSP00000296288.5:n.2002+72_2002+82delins...
ENST00000460680.5:c.2056+72_2056+82delinsGCCTCTCCTGA ENSP00000417132.1:n.2056+72_2056+82delins...
ENST00000466093.1:n.729+72_729+82delinsGCCTCTCCTGA
ENST00000469613.5:c.255+72_255+82delinsGCCTCTCCTGA
ENST00000478368.1:c.628+72_628+82delinsGCCTCTCCTGA ENSP00000420647.1:n.628+72_628+82delinsGC...
NM_004656.3:c.2056+72_2056+82delinsGCCTCTCCTGA NP_004647.1:n.2056+72_2056+82delinsGCCTCT...
XM_011534149.1:c.2125+72_2125+82delinsGCCTCTCCTGA XP_011532451.1:n.2125+72_2125+82delinsGCC...
XM_011534150.1:c.2080+72_2080+82delinsGCCTCTCCTGA XP_011532452.1:n.2080+72_2080+82delinsGCC...
XM_011534151.1:c.2071+72_2071+82delinsGCCTCTCCTGA XP_011532453.1:n.2071+72_2071+82delinsGCC...
XM_011534152.1:c.2011+72_2011+82delinsGCCTCTCCTGA XP_011532454.1:n.2011+72_2011+82delinsGCC...
XM_011534149.3:c.2125+72_2125+82delinsGCCTCTCCTGA XP_011532451.1:n.2125+72_2125+82delinsGCC...
XM_011534150.3:c.2080+72_2080+82delinsGCCTCTCCTGA XP_011532452.1:n.2080+72_2080+82delinsGCC...
XM_011534151.3:c.2071+72_2071+82delinsGCCTCTCCTGA XP_011532453.1:n.2071+72_2071+82delinsGCC...
XM_011534152.2:c.2011+72_2011+82delinsGCCTCTCCTGA XP_011532454.1:n.2011+72_2011+82delinsGCC...
XM_017007303.2:c.2002+72_2002+82delinsGCCTCTCCTGA XP_016862792.1:n.2002+72_2002+82delinsGCC...
NM_004656.4:c.2056+72_2056+82delinsGCCTCTCCTGA MANE Select NP_004647.1:n.2056+72_2056+82delinsGCCTCT...