Canonical Allele Identifier: CA2090050
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs750413473

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728713_214728714del , CM000664.2:g.214728713_214728714del GRCh38
NC_000002.11:g.215593437_215593438del , CM000664.1:g.215593437_215593438del GRCh37
NC_000002.10:g.215301682_215301683del NCBI36
NG_012047.2:g.85995_85996del
NG_012047.3:g.86002_86003del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.2300_2301del MANE Select ENSP00000260947.4:p.Val767AspfsTer4
ENST00000421162.2:c.947_948del ENSP00000392245.2:p.Val316AspfsTer4
ENST00000613192.2:c.*363_*364del ENSP00000483275.2:p.=
ENST00000613374.5:c.890_891del ENSP00000484464.1:p.Val297AspfsTer4
ENST00000613706.5:c.1892_1893del ENSP00000484976.2:p.Val631AspfsTer4
ENST00000617164.5:c.2243_2244del ENSP00000480470.1:p.Val748AspfsTer4
ENST00000619009.5:c.761_762del ENSP00000482293.1:p.Val254AspfsTer4
ENST00000650978.1:n.3675_3676del
ENST00000260947.8:c.2300_2301del ENSP00000260947.4:p.Val767AspfsTer4
ENST00000432456.5:n.443_444del
ENST00000455743.5:c.*1920_*1921del ENSP00000412186.1:p.=
ENST00000471590.5:n.635_636del
ENST00000613192.1:c.470_471del ENSP00000483275.1:p.Val157AspfsTer4
ENST00000613374.4:c.890_891del ENSP00000484464.1:p.Val297AspfsTer4
ENST00000613706.4:c.947_948del ENSP00000484976.1:p.Val316AspfsTer4
ENST00000617164.4:c.2243_2244del ENSP00000480470.1:p.Val748AspfsTer4
ENST00000619009.4:c.761_762del ENSP00000482293.1:p.Val254AspfsTer4
ENST00000620057.4:c.*966_*967del ENSP00000481988.1:p.=
NM_000465.3:c.2300_2301del NP_000456.2:p.Val767AspfsTer4
NM_001282543.1:c.2243_2244del NP_001269472.1:p.Val748AspfsTer4
NM_001282545.1:c.947_948del NP_001269474.1:p.Val316AspfsTer4
NM_001282548.1:c.890_891del NP_001269477.1:p.Val297AspfsTer4
NM_001282549.1:c.761_762del NP_001269478.1:p.Val254AspfsTer4
NR_104212.1:n.2293_2294del
NR_104215.1:n.2236_2237del
NR_104216.1:n.1492_1493del
XM_011511567.1:c.2246_2247del XP_011509869.1:p.Val749AspfsTer4
XM_017004613.1:c.2399_2400del XP_016860102.1:p.Val800AspfsTer4
XR_002959322.1:n.2666_2667del
NM_000465.4:c.2300_2301del MANE Select NP_000456.2:p.Val767AspfsTer4
NM_001282543.2:c.2243_2244del NP_001269472.1:p.Val748AspfsTer4
NM_001282545.2:c.947_948del NP_001269474.1:p.Val316AspfsTer4
NM_001282548.2:c.890_891del NP_001269477.1:p.Val297AspfsTer4
NM_001282549.2:c.761_762del NP_001269478.1:p.Val254AspfsTer4
NR_104212.2:n.2265_2266del
NR_104215.2:n.2208_2209del
NR_104216.2:n.1464_1465del