Canonical Allele Identifier: CA2580065717

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1736505
• ClinVar RCV Id: RCV002357667

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781481dup , CM000664.2:g.214781481dup	GRCh38
NC_000002.11:g.215646205dup , CM000664.1:g.215646205dup	GRCh37
NC_000002.10:g.215354450dup	NCBI36
NG_012047.2:g.33226dup
NG_012047.3:g.33233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.395dup MANE Select	ENSP00000260947.4:p.Leu132PhefsTer3
ENST00000421162.2:c.215+15582dup	ENSP00000392245.2:n.215+15582dup
ENST00000613192.2:c.158+27933dup	ENSP00000483275.2:n.158+27933dup
ENST00000613374.5:c.158+27933dup	ENSP00000484464.1:n.158+27933dup
ENST00000613706.5:c.395dup	ENSP00000484976.2:p.Leu132PhefsTer3
ENST00000617164.5:c.338dup	ENSP00000480470.1:p.Leu113PhefsTer3
ENST00000619009.5:c.364+10818dup	ENSP00000482293.1:n.364+10818dup
ENST00000650978.1:c.237dup
ENST00000260947.8:c.395dup	ENSP00000260947.4:p.Leu132PhefsTer3
ENST00000421162.1:c.215+15582dup	ENSP00000392245.1:n.215+15582dup
ENST00000455743.5:c.*15dup	ENSP00000412186.1:n.*15dup
ENST00000471787.1:n.290dup
ENST00000613192.1:c.73+27933dup	ENSP00000483275.1:n.73+27933dup
ENST00000613374.4:c.158+27933dup	ENSP00000484464.1:n.158+27933dup
ENST00000613706.4:c.215+15582dup	ENSP00000484976.1:n.215+15582dup
ENST00000617164.4:c.338dup	ENSP00000480470.1:p.Leu113PhefsTer3
ENST00000619009.4:c.364+10818dup	ENSP00000482293.1:n.364+10818dup
ENST00000620057.4:c.364+10818dup	ENSP00000481988.1:n.364+10818dup
NM_000465.3:c.395dup	NP_000456.2:p.Leu132PhefsTer3
NM_001282543.1:c.338dup	NP_001269472.1:p.Leu113PhefsTer3
NM_001282545.1:c.215+15582dup	NP_001269474.1:n.215+15582dup
NM_001282548.1:c.158+27933dup	NP_001269477.1:n.158+27933dup
NM_001282549.1:c.364+10818dup	NP_001269478.1:n.364+10818dup
NR_104212.1:n.388dup
NR_104215.1:n.331dup
NR_104216.1:n.506+10818dup
XM_011511567.1:c.341dup	XP_011509869.1:p.Leu114PhefsTer3
XM_011511568.1:c.395dup	XP_011509870.1:p.Leu132PhefsTer3
XM_017004613.1:c.494dup	XP_016860102.1:p.Leu165PhefsTer3
XM_017004614.1:c.494dup	XP_016860103.1:p.Leu165PhefsTer3
XR_002959322.1:n.585dup
NM_000465.4:c.395dup MANE Select	NP_000456.2:p.Leu132PhefsTer3
NM_001282543.2:c.338dup	NP_001269472.1:p.Leu113PhefsTer3
NM_001282545.2:c.215+15582dup	NP_001269474.1:n.215+15582dup
NM_001282548.2:c.158+27933dup	NP_001269477.1:n.158+27933dup
NM_001282549.2:c.364+10818dup	NP_001269478.1:n.364+10818dup
NR_104212.2:n.360dup
NR_104215.2:n.303dup
NR_104216.2:n.478+10818dup