Canonical Allele Identifier: CA1327045454
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728708_214728710delinsTCA , CM000664.2:g.214728708_214728710delinsTCA GRCh38
NC_000002.11:g.215593432_215593434delinsTCA , CM000664.1:g.215593432_215593434delinsTCA GRCh37
NC_000002.10:g.215301677_215301679delinsTCA NCBI36
NG_012047.2:g.85995_85997delinsTGA
NG_012047.3:g.86002_86004delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2300_2302delinsTGA MANE Select ENSP00000260947.4:p.Val767=
ENST00000421162.2:c.947_949delinsTGA ENSP00000392245.2:p.Val316=
ENST00000613192.2:c.*363_*365delinsTGA ENSP00000483275.2:n.*363_*365delinsTGA
ENST00000613374.5:c.890_892delinsTGA ENSP00000484464.1:p.Val297=
ENST00000613706.5:c.1892_1894delinsTGA ENSP00000484976.2:p.Val631=
ENST00000617164.5:c.2243_2245delinsTGA ENSP00000480470.1:p.Val748=
ENST00000619009.5:c.761_763delinsTGA ENSP00000482293.1:p.Val254=
ENST00000650978.1:c.3675_3677delinsTGA
ENST00000260947.8:c.2300_2302delinsTGA ENSP00000260947.4:p.Val767=
ENST00000432456.5:c.443_445delinsTGA
ENST00000455743.5:c.*1920_*1922delinsTGA ENSP00000412186.1:n.*1920_*1922delinsTGA
ENST00000471590.5:n.635_637delinsTGA
ENST00000613192.1:c.470_472delinsTGA ENSP00000483275.1:p.Val157=
ENST00000613374.4:c.890_892delinsTGA ENSP00000484464.1:p.Val297=
ENST00000613706.4:c.947_949delinsTGA ENSP00000484976.1:p.Val316=
ENST00000617164.4:c.2243_2245delinsTGA ENSP00000480470.1:p.Val748=
ENST00000619009.4:c.761_763delinsTGA ENSP00000482293.1:p.Val254=
ENST00000620057.4:c.*966_*968delinsTGA ENSP00000481988.1:n.*966_*968delinsTGA
NM_000465.3:c.2300_2302delinsTGA NP_000456.2:p.Val767=
NM_001282543.1:c.2243_2245delinsTGA NP_001269472.1:p.Val748=
NM_001282545.1:c.947_949delinsTGA NP_001269474.1:p.Val316=
NM_001282548.1:c.890_892delinsTGA NP_001269477.1:p.Val297=
NM_001282549.1:c.761_763delinsTGA NP_001269478.1:p.Val254=
NR_104212.1:n.2293_2295delinsTGA
NR_104215.1:n.2236_2238delinsTGA
NR_104216.1:n.1492_1494delinsTGA
XM_011511567.1:c.2246_2248delinsTGA XP_011509869.1:p.Val749=
XM_017004613.1:c.2399_2401delinsTGA XP_016860102.1:p.Val800=
XR_002959322.1:n.2666_2668delinsTGA
NM_000465.4:c.2300_2302delinsTGA MANE Select NP_000456.2:p.Val767=
NM_001282543.2:c.2243_2245delinsTGA NP_001269472.1:p.Val748=
NM_001282545.2:c.947_949delinsTGA NP_001269474.1:p.Val316=
NM_001282548.2:c.890_892delinsTGA NP_001269477.1:p.Val297=
NM_001282549.2:c.761_763delinsTGA NP_001269478.1:p.Val254=
NR_104212.2:n.2265_2267delinsTGA
NR_104215.2:n.2208_2210delinsTGA
NR_104216.2:n.1464_1466delinsTGA