Canonical Allele Identifier: CA2580065681

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1801622
• ClinVar RCV Id: RCV003164658

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781140del , CM000664.2:g.214781140del	GRCh38
NC_000002.11:g.215645864del , CM000664.1:g.215645864del	GRCh37
NC_000002.10:g.215354109del	NCBI36
NG_012047.2:g.33566del
NG_012047.3:g.33573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.735del MANE Select	ENSP00000260947.4:p.Gln245HisfsTer10
ENST00000421162.2:c.215+15922del	ENSP00000392245.2:n.215+15922del
ENST00000613192.2:c.158+28273del	ENSP00000483275.2:n.158+28273del
ENST00000613374.5:c.158+28273del	ENSP00000484464.1:n.158+28273del
ENST00000613706.5:c.735del	ENSP00000484976.2:p.Gln245HisfsTer10
ENST00000617164.5:c.678del	ENSP00000480470.1:p.Gln226HisfsTer10
ENST00000619009.5:c.364+11158del	ENSP00000482293.1:n.364+11158del
ENST00000650978.1:c.577del
ENST00000260947.8:c.735del	ENSP00000260947.4:p.Gln245HisfsTer10
ENST00000421162.1:c.215+15922del	ENSP00000392245.1:n.215+15922del
ENST00000455743.5:c.*355del	ENSP00000412186.1:n.*355del
ENST00000471787.1:n.630del
ENST00000613192.1:c.73+28273del	ENSP00000483275.1:n.73+28273del
ENST00000613374.4:c.158+28273del	ENSP00000484464.1:n.158+28273del
ENST00000613706.4:c.215+15922del	ENSP00000484976.1:n.215+15922del
ENST00000617164.4:c.678del	ENSP00000480470.1:p.Gln226HisfsTer10
ENST00000619009.4:c.364+11158del	ENSP00000482293.1:n.364+11158del
ENST00000620057.4:c.364+11158del	ENSP00000481988.1:n.364+11158del
NM_000465.3:c.735del	NP_000456.2:p.Gln245HisfsTer10
NM_001282543.1:c.678del	NP_001269472.1:p.Gln226HisfsTer10
NM_001282545.1:c.215+15922del	NP_001269474.1:n.215+15922del
NM_001282548.1:c.158+28273del	NP_001269477.1:n.158+28273del
NM_001282549.1:c.364+11158del	NP_001269478.1:n.364+11158del
NR_104212.1:n.728del
NR_104215.1:n.671del
NR_104216.1:n.506+11158del
XM_011511567.1:c.681del	XP_011509869.1:p.Gln227HisfsTer10
XM_011511568.1:c.735del	XP_011509870.1:p.Gln245HisfsTer10
XM_017004613.1:c.834del	XP_016860102.1:p.Gln278HisfsTer10
XM_017004614.1:c.834del	XP_016860103.1:p.Gln278HisfsTer10
XR_002959322.1:n.925del
NM_000465.4:c.735del MANE Select	NP_000456.2:p.Gln245HisfsTer10
NM_001282543.2:c.678del	NP_001269472.1:p.Gln226HisfsTer10
NM_001282545.2:c.215+15922del	NP_001269474.1:n.215+15922del
NM_001282548.2:c.158+28273del	NP_001269477.1:n.158+28273del
NM_001282549.2:c.364+11158del	NP_001269478.1:n.364+11158del
NR_104212.2:n.700del
NR_104215.2:n.643del
NR_104216.2:n.478+11158del