Canonical Allele Identifier: CA2662969867
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728616_214728618del , CM000664.2:g.214728616_214728618del GRCh38
NC_000002.11:g.215593340_215593342del , CM000664.1:g.215593340_215593342del GRCh37
NC_000002.10:g.215301585_215301587del NCBI36
NG_012047.2:g.86087_86089del
NG_012047.3:g.86094_86096del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.*58_*60del MANE Select ENSP00000260947.4:n.*58_*60del
ENST00000613374.5:c.*58_*60del ENSP00000484464.1:n.*58_*60del
ENST00000613706.5:c.*58_*60del ENSP00000484976.2:n.*58_*60del
ENST00000617164.5:c.*58_*60del ENSP00000480470.1:n.*58_*60del
ENST00000619009.5:c.*58_*60del ENSP00000482293.1:n.*58_*60del
ENST00000650978.1:c.3767_3769del
ENST00000260947.8:c.*58_*60del ENSP00000260947.4:n.*58_*60del
ENST00000432456.5:c.535_537del
ENST00000471590.5:n.727_729del
ENST00000613374.4:c.*58_*60del ENSP00000484464.1:n.*58_*60del
ENST00000613706.4:c.*58_*60del ENSP00000484976.1:n.*58_*60del
ENST00000617164.4:c.*58_*60del ENSP00000480470.1:n.*58_*60del
ENST00000619009.4:c.*58_*60del ENSP00000482293.1:n.*58_*60del
NM_000465.3:c.*58_*60del NP_000456.2:n.*58_*60del
NM_001282543.1:c.*58_*60del NP_001269472.1:n.*58_*60del
NM_001282545.1:c.*58_*60del NP_001269474.1:n.*58_*60del
NM_001282548.1:c.*58_*60del NP_001269477.1:n.*58_*60del
NM_001282549.1:c.*58_*60del NP_001269478.1:n.*58_*60del
NR_104212.1:n.2385_2387del
NR_104215.1:n.2328_2330del
NR_104216.1:n.1584_1586del
XM_011511567.1:c.*58_*60del XP_011509869.1:n.*58_*60del
XM_017004613.1:c.*58_*60del XP_016860102.1:n.*58_*60del
XR_002959322.1:n.2758_2760del
NM_000465.4:c.*58_*60del MANE Select NP_000456.2:n.*58_*60del
NM_001282543.2:c.*58_*60del NP_001269472.1:n.*58_*60del
NM_001282545.2:c.*58_*60del NP_001269474.1:n.*58_*60del
NM_001282548.2:c.*58_*60del NP_001269477.1:n.*58_*60del
NM_001282549.2:c.*58_*60del NP_001269478.1:n.*58_*60del
NR_104212.2:n.2357_2359del
NR_104215.2:n.2300_2302del
NR_104216.2:n.1556_1558del