Canonical Allele Identifier: CA2840296015
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792327dup , CM000664.2:g.214792327dup GRCh38
NC_000002.11:g.215657051dup , CM000664.1:g.215657051dup GRCh37
NC_000002.10:g.215365296dup NCBI36
NG_012047.2:g.22378dup
NG_012047.3:g.22385dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.334dup MANE Select ENSP00000260947.4:p.Arg112ProfsTer6
ENST00000421162.2:c.215+4734dup ENSP00000392245.2:n.215+4734dup
ENST00000613192.2:c.158+17085dup ENSP00000483275.2:n.158+17085dup
ENST00000613374.5:c.158+17085dup ENSP00000484464.1:n.158+17085dup
ENST00000613706.5:c.334dup ENSP00000484976.2:p.Arg112ProfsTer6
ENST00000617164.5:c.277dup ENSP00000480470.1:p.Arg93ProfsTer6
ENST00000619009.5:c.334dup ENSP00000482293.1:p.Arg112ProfsTer6
ENST00000650978.1:c.176dup
ENST00000260947.8:c.334dup ENSP00000260947.4:p.Arg112ProfsTer6
ENST00000421162.1:c.215+4734dup ENSP00000392245.1:n.215+4734dup
ENST00000455743.5:c.215+4734dup ENSP00000412186.1:n.215+4734dup
ENST00000471787.1:n.260-10818dup
ENST00000613192.1:c.73+17085dup ENSP00000483275.1:n.73+17085dup
ENST00000613374.4:c.158+17085dup ENSP00000484464.1:n.158+17085dup
ENST00000613706.4:c.215+4734dup ENSP00000484976.1:n.215+4734dup
ENST00000617164.4:c.277dup ENSP00000480470.1:p.Arg93ProfsTer6
ENST00000619009.4:c.334dup ENSP00000482293.1:p.Arg112ProfsTer6
ENST00000620057.4:c.334dup ENSP00000481988.1:p.Arg112ProfsTer6
NM_000465.3:c.334dup NP_000456.2:p.Arg112ProfsTer6
NM_001282543.1:c.277dup NP_001269472.1:p.Arg93ProfsTer6
NM_001282545.1:c.215+4734dup NP_001269474.1:n.215+4734dup
NM_001282548.1:c.158+17085dup NP_001269477.1:n.158+17085dup
NM_001282549.1:c.334dup NP_001269478.1:p.Arg112ProfsTer6
NR_104212.1:n.357+4734dup
NR_104215.1:n.301-10818dup
NR_104216.1:n.476dup
XM_011511567.1:c.280dup XP_011509869.1:p.Arg94ProfsTer6
XM_011511568.1:c.334dup XP_011509870.1:p.Arg112ProfsTer6
XM_017004613.1:c.433dup XP_016860102.1:p.Arg145ProfsTer6
XM_017004614.1:c.433dup XP_016860103.1:p.Arg145ProfsTer6
XR_002959322.1:n.524dup
NM_000465.4:c.334dup MANE Select NP_000456.2:p.Arg112ProfsTer6
NM_001282543.2:c.277dup NP_001269472.1:p.Arg93ProfsTer6
NM_001282545.2:c.215+4734dup NP_001269474.1:n.215+4734dup
NM_001282548.2:c.158+17085dup NP_001269477.1:n.158+17085dup
NM_001282549.2:c.334dup NP_001269478.1:p.Arg112ProfsTer6
NR_104212.2:n.329+4734dup
NR_104215.2:n.273-10818dup
NR_104216.2:n.448dup