Canonical Allele Identifier: CA2582342121

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583785
• ClinVar RCV Id: RCV003334707

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792379del , CM000664.2:g.214792379del	GRCh38
NC_000002.11:g.215657103del , CM000664.1:g.215657103del	GRCh37
NC_000002.10:g.215365348del	NCBI36
NG_012047.2:g.22326del
NG_012047.3:g.22333del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.282del MANE Select	ENSP00000260947.4:p.Leu95Ter
ENST00000421162.2:c.215+4682del	ENSP00000392245.2:n.215+4682del
ENST00000613192.2:c.158+17033del	ENSP00000483275.2:n.158+17033del
ENST00000613374.5:c.158+17033del	ENSP00000484464.1:n.158+17033del
ENST00000613706.5:c.282del	ENSP00000484976.2:p.Leu95Ter
ENST00000617164.5:c.225del	ENSP00000480470.1:p.Leu76Ter
ENST00000619009.5:c.282del	ENSP00000482293.1:p.Leu95Ter
ENST00000650978.1:c.124del
ENST00000260947.8:c.282del	ENSP00000260947.4:p.Leu95Ter
ENST00000421162.1:c.215+4682del	ENSP00000392245.1:n.215+4682del
ENST00000455743.5:c.215+4682del	ENSP00000412186.1:n.215+4682del
ENST00000471787.1:n.260-10870del
ENST00000613192.1:c.73+17033del	ENSP00000483275.1:n.73+17033del
ENST00000613374.4:c.158+17033del	ENSP00000484464.1:n.158+17033del
ENST00000613706.4:c.215+4682del	ENSP00000484976.1:n.215+4682del
ENST00000617164.4:c.225del	ENSP00000480470.1:p.Leu76Ter
ENST00000619009.4:c.282del	ENSP00000482293.1:p.Leu95Ter
ENST00000620057.4:c.282del	ENSP00000481988.1:p.Leu95Ter
NM_000465.3:c.282del	NP_000456.2:p.Leu95Ter
NM_001282543.1:c.225del	NP_001269472.1:p.Leu76Ter
NM_001282545.1:c.215+4682del	NP_001269474.1:n.215+4682del
NM_001282548.1:c.158+17033del	NP_001269477.1:n.158+17033del
NM_001282549.1:c.282del	NP_001269478.1:p.Leu95Ter
NR_104212.1:n.357+4682del
NR_104215.1:n.301-10870del
NR_104216.1:n.424del
XM_011511567.1:c.228del	XP_011509869.1:p.Leu77Ter
XM_011511568.1:c.282del	XP_011509870.1:p.Leu95Ter
XM_017004613.1:c.381del	XP_016860102.1:p.Leu128Ter
XM_017004614.1:c.381del	XP_016860103.1:p.Leu128Ter
XR_002959322.1:n.472del
NM_000465.4:c.282del MANE Select	NP_000456.2:p.Leu95Ter
NM_001282543.2:c.225del	NP_001269472.1:p.Leu76Ter
NM_001282545.2:c.215+4682del	NP_001269474.1:n.215+4682del
NM_001282548.2:c.158+17033del	NP_001269477.1:n.158+17033del
NM_001282549.2:c.282del	NP_001269478.1:p.Leu95Ter
NR_104212.2:n.329+4682del
NR_104215.2:n.273-10870del
NR_104216.2:n.396del