Canonical Allele Identifier: CA3249308805
Community Standard Title: NM_000465.4(BARD1):c.2266_2268del (p.Trp756del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728742_214728744del , CM000664.2:g.214728742_214728744del GRCh38
NC_000002.11:g.215593466_215593468del , CM000664.1:g.215593466_215593468del GRCh37
NC_000002.10:g.215301711_215301713del NCBI36
NG_012047.2:g.85961_85963del
NG_012047.3:g.85968_85970del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2266_2268del MANE Select NP_000456.2:p.Trp756del
ENST00000260947.9:c.2266_2268del MANE Select ENSP00000260947.4:p.Trp756del
NM_000465.3:c.2266_2268del NP_000456.2:p.Trp756del
NM_001282543.1:c.2209_2211del NP_001269472.1:p.Trp737del
NM_001282543.2:c.2209_2211del NP_001269472.1:p.Trp737del
NM_001282545.1:c.913_915del NP_001269474.1:p.Trp305del
NM_001282545.2:c.913_915del NP_001269474.1:p.Trp305del
NM_001282548.1:c.856_858del NP_001269477.1:p.Trp286del
NM_001282548.2:c.856_858del NP_001269477.1:p.Trp286del
NM_001282549.1:c.727_729del NP_001269478.1:p.Trp243del
NM_001282549.2:c.727_729del NP_001269478.1:p.Trp243del
NR_104212.1:n.2259_2261del
NR_104212.2:n.2231_2233del
NR_104215.1:n.2202_2204del
NR_104215.2:n.2174_2176del
NR_104216.1:n.1458_1460del
NR_104216.2:n.1430_1432del
ENST00000260947.8:c.2266_2268del ENSP00000260947.4:p.Trp756del
ENST00000421162.2:c.913_915del ENSP00000392245.2:p.Trp305del
ENST00000432456.5:c.409_411del
ENST00000455743.5:c.*1886_*1888del ENSP00000412186.1:n.*1886_*1888del
ENST00000471590.5:n.601_603del
ENST00000613192.1:c.436_438del ENSP00000483275.1:p.Trp146del
ENST00000613192.2:c.*329_*331del ENSP00000483275.2:n.*329_*331del
ENST00000613374.4:c.856_858del ENSP00000484464.1:p.Trp286del
ENST00000613374.5:c.856_858del ENSP00000484464.1:p.Trp286del
ENST00000613706.4:c.913_915del ENSP00000484976.1:p.Trp305del
ENST00000613706.5:c.1858_1860del ENSP00000484976.2:p.Trp620del
ENST00000617164.4:c.2209_2211del ENSP00000480470.1:p.Trp737del
ENST00000617164.5:c.2209_2211del ENSP00000480470.1:p.Trp737del
ENST00000619009.4:c.727_729del ENSP00000482293.1:p.Trp243del
ENST00000619009.5:c.727_729del ENSP00000482293.1:p.Trp243del
ENST00000620057.4:c.*932_*934del ENSP00000481988.1:n.*932_*934del
ENST00000650978.1:c.3641_3643del
XM_011511567.1:c.2212_2214del XP_011509869.1:p.Trp738del
XM_017004613.1:c.2365_2367del XP_016860102.1:p.Trp789del
XR_002959322.1:n.2632_2634del