Canonical Allele Identifier: CA433885966
Gene: BAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402368_52402369insG , CM000665.2:g.52402368_52402369insG GRCh38
NC_000003.11:g.52436384_52436385insG , CM000665.1:g.52436384_52436385insG GRCh37
NC_000003.10:g.52411424_52411425insG NCBI36
NG_031859.1:g.12625_12626insC , LRG_529:g.12625_12626insC
NG_052911.1:g.91050_91051insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.2109_2110insC MANE Select ENSP00000417132.1:p.Val704ArgfsTer13
ENST00000296288.9:c.2055_2056insC ENSP00000296288.5:p.Val686ArgfsTer13
ENST00000460680.5:c.2109_2110insC ENSP00000417132.1:p.Val704ArgfsTer13
ENST00000466093.1:n.782_783insC
ENST00000469613.5:c.308_309insC
ENST00000478368.1:c.681_682insC ENSP00000420647.1:p.Val228ArgfsTer13
NM_004656.3:c.2109_2110insC NP_004647.1:p.Val704ArgfsTer13
XM_011534149.1:c.2178_2179insC XP_011532451.1:p.Val727ArgfsTer13
XM_011534150.1:c.2133_2134insC XP_011532452.1:p.Val712ArgfsTer13
XM_011534151.1:c.2124_2125insC XP_011532453.1:p.Val709ArgfsTer13
XM_011534152.1:c.2064_2065insC XP_011532454.1:p.Val689ArgfsTer13
XM_011534149.3:c.2178_2179insC XP_011532451.1:p.Val727ArgfsTer13
XM_011534150.3:c.2133_2134insC XP_011532452.1:p.Val712ArgfsTer13
XM_011534151.3:c.2124_2125insC XP_011532453.1:p.Val709ArgfsTer13
XM_011534152.2:c.2064_2065insC XP_011532454.1:p.Val689ArgfsTer13
XM_017007303.2:c.2055_2056insC XP_016862792.1:p.Val686ArgfsTer13
NM_004656.4:c.2109_2110insC MANE Select NP_004647.1:p.Val704ArgfsTer13