Canonical Allele Identifier: CA915941694

Gene: BARD1

Linked Data

• ClinVar Variation Id: 825522
• ClinVar RCV Id: RCV001023687 ; RCV001030672
• dbSNP Id: rs1574821103

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781356dup , CM000664.2:g.214781356dup	GRCh38
NC_000002.11:g.215646080dup , CM000664.1:g.215646080dup	GRCh37
NC_000002.10:g.215354325dup	NCBI36
NG_012047.2:g.33349dup
NG_012047.3:g.33356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.518dup MANE Select	ENSP00000260947.4:p.Ser174LysfsTer8
ENST00000421162.2:c.215+15705dup	ENSP00000392245.2:n.215+15705dup
ENST00000613192.2:c.158+28056dup	ENSP00000483275.2:n.158+28056dup
ENST00000613374.5:c.158+28056dup	ENSP00000484464.1:n.158+28056dup
ENST00000613706.5:c.518dup	ENSP00000484976.2:p.Ser174LysfsTer8
ENST00000617164.5:c.461dup	ENSP00000480470.1:p.Ser155LysfsTer8
ENST00000619009.5:c.364+10941dup	ENSP00000482293.1:n.364+10941dup
ENST00000650978.1:c.360dup
ENST00000260947.8:c.518dup	ENSP00000260947.4:p.Ser174LysfsTer8
ENST00000421162.1:c.215+15705dup	ENSP00000392245.1:n.215+15705dup
ENST00000455743.5:c.*138dup	ENSP00000412186.1:n.*138dup
ENST00000471787.1:n.413dup
ENST00000613192.1:c.73+28056dup	ENSP00000483275.1:n.73+28056dup
ENST00000613374.4:c.158+28056dup	ENSP00000484464.1:n.158+28056dup
ENST00000613706.4:c.215+15705dup	ENSP00000484976.1:n.215+15705dup
ENST00000617164.4:c.461dup	ENSP00000480470.1:p.Ser155LysfsTer8
ENST00000619009.4:c.364+10941dup	ENSP00000482293.1:n.364+10941dup
ENST00000620057.4:c.364+10941dup	ENSP00000481988.1:n.364+10941dup
NM_000465.3:c.518dup	NP_000456.2:p.Ser174LysfsTer8
NM_001282543.1:c.461dup	NP_001269472.1:p.Ser155LysfsTer8
NM_001282545.1:c.215+15705dup	NP_001269474.1:n.215+15705dup
NM_001282548.1:c.158+28056dup	NP_001269477.1:n.158+28056dup
NM_001282549.1:c.364+10941dup	NP_001269478.1:n.364+10941dup
NR_104212.1:n.511dup
NR_104215.1:n.454dup
NR_104216.1:n.506+10941dup
XM_011511567.1:c.464dup	XP_011509869.1:p.Ser156LysfsTer8
XM_011511568.1:c.518dup	XP_011509870.1:p.Ser174LysfsTer8
XM_017004613.1:c.617dup	XP_016860102.1:p.Ser207LysfsTer8
XM_017004614.1:c.617dup	XP_016860103.1:p.Ser207LysfsTer8
XR_002959322.1:n.708dup
NM_000465.4:c.518dup MANE Select	NP_000456.2:p.Ser174LysfsTer8
NM_001282543.2:c.461dup	NP_001269472.1:p.Ser155LysfsTer8
NM_001282545.2:c.215+15705dup	NP_001269474.1:n.215+15705dup
NM_001282548.2:c.158+28056dup	NP_001269477.1:n.158+28056dup
NM_001282549.2:c.364+10941dup	NP_001269478.1:n.364+10941dup
NR_104212.2:n.483dup
NR_104215.2:n.426dup
NR_104216.2:n.478+10941dup