Canonical Allele Identifier: CA1364835563
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403145_52403147delinsGAG , CM000665.2:g.52403145_52403147delinsGAG GRCh38
NC_000003.11:g.52437161_52437163delinsGAG , CM000665.1:g.52437161_52437163delinsGAG GRCh37
NC_000003.10:g.52412201_52412203delinsGAG NCBI36
NG_031859.1:g.11847_11849delinsCTC , LRG_529:g.11847_11849delinsCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1881_1883delinsCTC MANE Select ENSP00000417132.1:p.Tyr627=
ENST00000296288.9:c.1827_1829delinsCTC ENSP00000296288.5:p.Tyr609=
ENST00000460680.5:c.1881_1883delinsCTC ENSP00000417132.1:p.Tyr627=
ENST00000466093.1:n.288_290delinsCTC
ENST00000469613.5:c.120-306_120-304delinsCTC
ENST00000478368.1:c.384_386delinsCTC ENSP00000420647.1:p.Tyr128=
NM_004656.3:c.1881_1883delinsCTC NP_004647.1:p.Tyr627=
XM_011534149.1:c.1881_1883delinsCTC XP_011532451.1:p.Tyr627=
XM_011534150.1:c.1845+36_1845+38delinsCTC XP_011532452.1:n.1845+36_1845+38delinsCTC
XM_011534151.1:c.1827_1829delinsCTC XP_011532453.1:p.Tyr609=
XM_011534152.1:c.1845+36_1845+38delinsCTC XP_011532454.1:n.1845+36_1845+38delinsCTC
XM_011534149.3:c.1881_1883delinsCTC XP_011532451.1:p.Tyr627=
XM_011534150.3:c.1845+36_1845+38delinsCTC XP_011532452.1:n.1845+36_1845+38delinsCTC
XM_011534151.3:c.1827_1829delinsCTC XP_011532453.1:p.Tyr609=
XM_011534152.2:c.1845+36_1845+38delinsCTC XP_011532454.1:n.1845+36_1845+38delinsCTC
XM_017007303.2:c.1827_1829delinsCTC XP_016862792.1:p.Tyr609=
NM_004656.4:c.1881_1883delinsCTC MANE Select NP_004647.1:p.Tyr627=