Canonical Allele Identifier: CA1327071119
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780863_214780864delinsTC , CM000664.2:g.214780863_214780864delinsTC GRCh38
NC_000002.11:g.215645587_215645588delinsTC , CM000664.1:g.215645587_215645588delinsTC GRCh37
NC_000002.10:g.215353832_215353833delinsTC NCBI36
NG_012047.2:g.33841_33842delinsGA
NG_012047.3:g.33848_33849delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1010_1011delinsGA MANE Select ENSP00000260947.4:p.Arg337=
ENST00000421162.2:c.215+16197_215+16198delinsGA ENSP00000392245.2:n.215+16197_215+16198delinsGA
ENST00000613192.2:c.158+28548_158+28549delinsGA ENSP00000483275.2:n.158+28548_158+28549delinsGA
ENST00000613374.5:c.159-28309_159-28308delinsGA ENSP00000484464.1:n.159-28309_159-28308delinsGA
ENST00000613706.5:c.906+104_906+105delinsGA ENSP00000484976.2:n.906+104_906+105delinsGA
ENST00000617164.5:c.953_954delinsGA ENSP00000480470.1:p.Arg318=
ENST00000619009.5:c.364+11433_364+11434delinsGA ENSP00000482293.1:n.364+11433_364+11434delinsGA
ENST00000650978.1:c.852_853delinsGA
ENST00000260947.8:c.1010_1011delinsGA ENSP00000260947.4:p.Arg337=
ENST00000421162.1:c.215+16197_215+16198delinsGA ENSP00000392245.1:n.215+16197_215+16198delinsGA
ENST00000455743.5:c.*630_*631delinsGA ENSP00000412186.1:n.*630_*631delinsGA
ENST00000613192.1:c.73+28548_73+28549delinsGA ENSP00000483275.1:n.73+28548_73+28549delinsGA
ENST00000613374.4:c.159-28309_159-28308delinsGA ENSP00000484464.1:n.159-28309_159-28308delinsGA
ENST00000613706.4:c.215+16197_215+16198delinsGA ENSP00000484976.1:n.215+16197_215+16198delinsGA
ENST00000617164.4:c.953_954delinsGA ENSP00000480470.1:p.Arg318=
ENST00000619009.4:c.364+11433_364+11434delinsGA ENSP00000482293.1:n.364+11433_364+11434delinsGA
ENST00000620057.4:c.364+11433_364+11434delinsGA ENSP00000481988.1:n.364+11433_364+11434delinsGA
NM_000465.3:c.1010_1011delinsGA NP_000456.2:p.Arg337=
NM_001282543.1:c.953_954delinsGA NP_001269472.1:p.Arg318=
NM_001282545.1:c.215+16197_215+16198delinsGA NP_001269474.1:n.215+16197_215+16198delinsGA
NM_001282548.1:c.159-28309_159-28308delinsGA NP_001269477.1:n.159-28309_159-28308delinsGA
NM_001282549.1:c.364+11433_364+11434delinsGA NP_001269478.1:n.364+11433_364+11434delinsGA
NR_104212.1:n.1003_1004delinsGA
NR_104215.1:n.946_947delinsGA
NR_104216.1:n.506+11433_506+11434delinsGA
XM_011511567.1:c.956_957delinsGA XP_011509869.1:p.Arg319=
XM_011511568.1:c.1010_1011delinsGA XP_011509870.1:p.Arg337=
XM_017004613.1:c.1109_1110delinsGA XP_016860102.1:p.Arg370=
XM_017004614.1:c.1109_1110delinsGA XP_016860103.1:p.Arg370=
XR_002959322.1:n.1200_1201delinsGA
NM_000465.4:c.1010_1011delinsGA MANE Select NP_000456.2:p.Arg337=
NM_001282543.2:c.953_954delinsGA NP_001269472.1:p.Arg318=
NM_001282545.2:c.215+16197_215+16198delinsGA NP_001269474.1:n.215+16197_215+16198delinsGA
NM_001282548.2:c.159-28309_159-28308delinsGA NP_001269477.1:n.159-28309_159-28308delinsGA
NM_001282549.2:c.364+11433_364+11434delinsGA NP_001269478.1:n.364+11433_364+11434delinsGA
NR_104212.2:n.975_976delinsGA
NR_104215.2:n.918_919delinsGA
NR_104216.2:n.478+11433_478+11434delinsGA