Canonical Allele Identifier: CA2580065716

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1736504
• ClinVar RCV Id: RCV002357666

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.395del MANE Select	ENSP00000260947.4:p.Leu132CysfsTer27
ENST00000421162.2:c.215+15582del	ENSP00000392245.2:n.215+15582del
ENST00000613192.2:c.158+27933del	ENSP00000483275.2:n.158+27933del
ENST00000613374.5:c.158+27933del	ENSP00000484464.1:n.158+27933del
ENST00000613706.5:c.395del	ENSP00000484976.2:p.Leu132CysfsTer27
ENST00000617164.5:c.338del	ENSP00000480470.1:p.Leu113CysfsTer27
ENST00000619009.5:c.364+10818del	ENSP00000482293.1:n.364+10818del
ENST00000650978.1:c.237del
ENST00000260947.8:c.395del	ENSP00000260947.4:p.Leu132CysfsTer27
ENST00000421162.1:c.215+15582del	ENSP00000392245.1:n.215+15582del
ENST00000455743.5:c.*15del	ENSP00000412186.1:n.*15del
ENST00000471787.1:n.290del
ENST00000613192.1:c.73+27933del	ENSP00000483275.1:n.73+27933del
ENST00000613374.4:c.158+27933del	ENSP00000484464.1:n.158+27933del
ENST00000613706.4:c.215+15582del	ENSP00000484976.1:n.215+15582del
ENST00000617164.4:c.338del	ENSP00000480470.1:p.Leu113CysfsTer27
ENST00000619009.4:c.364+10818del	ENSP00000482293.1:n.364+10818del
ENST00000620057.4:c.364+10818del	ENSP00000481988.1:n.364+10818del
NM_000465.3:c.395del	NP_000456.2:p.Leu132CysfsTer27
NM_001282543.1:c.338del	NP_001269472.1:p.Leu113CysfsTer27
NM_001282545.1:c.215+15582del	NP_001269474.1:n.215+15582del
NM_001282548.1:c.158+27933del	NP_001269477.1:n.158+27933del
NM_001282549.1:c.364+10818del	NP_001269478.1:n.364+10818del
NR_104212.1:n.388del
NR_104215.1:n.331del
NR_104216.1:n.506+10818del
XM_011511567.1:c.341del	XP_011509869.1:p.Leu114CysfsTer27
XM_011511568.1:c.395del	XP_011509870.1:p.Leu132CysfsTer27
XM_017004613.1:c.494del	XP_016860102.1:p.Leu165CysfsTer27
XM_017004614.1:c.494del	XP_016860103.1:p.Leu165CysfsTer27
XR_002959322.1:n.585del
NM_000465.4:c.395del MANE Select	NP_000456.2:p.Leu132CysfsTer27
NM_001282543.2:c.338del	NP_001269472.1:p.Leu113CysfsTer27
NM_001282545.2:c.215+15582del	NP_001269474.1:n.215+15582del
NM_001282548.2:c.158+27933del	NP_001269477.1:n.158+27933del
NM_001282549.2:c.364+10818del	NP_001269478.1:n.364+10818del
NR_104212.2:n.360del
NR_104215.2:n.303del
NR_104216.2:n.478+10818del