Canonical Allele Identifier: CA2825001079

Gene: BARD1

Linked Data

• ClinVar Variation Id: 3231800
• ClinVar RCV Id: RCV004518515

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781333_214781335del , CM000664.2:g.214781333_214781335del	GRCh38
NC_000002.11:g.215646057_215646059del , CM000664.1:g.215646057_215646059del	GRCh37
NC_000002.10:g.215354302_215354304del	NCBI36
NG_012047.2:g.33371_33373del
NG_012047.3:g.33378_33380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.540_542del MANE Select	ENSP00000260947.4:p.Tyr180Ter
ENST00000421162.2:c.215+15727_215+15729del	ENSP00000392245.2:n.215+15727_215+15729del
ENST00000613192.2:c.158+28078_158+28080del	ENSP00000483275.2:n.158+28078_158+28080del
ENST00000613374.5:c.158+28078_158+28080del	ENSP00000484464.1:n.158+28078_158+28080del
ENST00000613706.5:c.540_542del	ENSP00000484976.2:p.Tyr180Ter
ENST00000617164.5:c.483_485del	ENSP00000480470.1:p.Tyr161Ter
ENST00000619009.5:c.364+10963_364+10965del	ENSP00000482293.1:n.364+10963_364+10965del
ENST00000650978.1:c.382_384del
ENST00000260947.8:c.540_542del	ENSP00000260947.4:p.Tyr180Ter
ENST00000421162.1:c.215+15727_215+15729del	ENSP00000392245.1:n.215+15727_215+15729del
ENST00000455743.5:c.*160_*162del	ENSP00000412186.1:n.*160_*162del
ENST00000471787.1:n.435_437del
ENST00000613192.1:c.73+28078_73+28080del	ENSP00000483275.1:n.73+28078_73+28080del
ENST00000613374.4:c.158+28078_158+28080del	ENSP00000484464.1:n.158+28078_158+28080del
ENST00000613706.4:c.215+15727_215+15729del	ENSP00000484976.1:n.215+15727_215+15729del
ENST00000617164.4:c.483_485del	ENSP00000480470.1:p.Tyr161Ter
ENST00000619009.4:c.364+10963_364+10965del	ENSP00000482293.1:n.364+10963_364+10965del
ENST00000620057.4:c.364+10963_364+10965del	ENSP00000481988.1:n.364+10963_364+10965del
NM_000465.3:c.540_542del	NP_000456.2:p.Tyr180Ter
NM_001282543.1:c.483_485del	NP_001269472.1:p.Tyr161Ter
NM_001282545.1:c.215+15727_215+15729del	NP_001269474.1:n.215+15727_215+15729del
NM_001282548.1:c.158+28078_158+28080del	NP_001269477.1:n.158+28078_158+28080del
NM_001282549.1:c.364+10963_364+10965del	NP_001269478.1:n.364+10963_364+10965del
NR_104212.1:n.533_535del
NR_104215.1:n.476_478del
NR_104216.1:n.506+10963_506+10965del
XM_011511567.1:c.486_488del	XP_011509869.1:p.Tyr162Ter
XM_011511568.1:c.540_542del	XP_011509870.1:p.Tyr180Ter
XM_017004613.1:c.639_641del	XP_016860102.1:p.Tyr213Ter
XM_017004614.1:c.639_641del	XP_016860103.1:p.Tyr213Ter
XR_002959322.1:n.730_732del
NM_000465.4:c.540_542del MANE Select	NP_000456.2:p.Tyr180Ter
NM_001282543.2:c.483_485del	NP_001269472.1:p.Tyr161Ter
NM_001282545.2:c.215+15727_215+15729del	NP_001269474.1:n.215+15727_215+15729del
NM_001282548.2:c.158+28078_158+28080del	NP_001269477.1:n.158+28078_158+28080del
NM_001282549.2:c.364+10963_364+10965del	NP_001269478.1:n.364+10963_364+10965del
NR_104212.2:n.505_507del
NR_104215.2:n.448_450del
NR_104216.2:n.478+10963_478+10965del