Canonical Allele Identifier: CA2573051857

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1332667
• ClinVar RCV Id: RCV001805713
• dbSNP Id: rs2106112354

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781423_214781425del , CM000664.2:g.214781423_214781425del	GRCh38
NC_000002.11:g.215646147_215646149del , CM000664.1:g.215646147_215646149del	GRCh37
NC_000002.10:g.215354392_215354394del	NCBI36
NG_012047.2:g.33281_33283del
NG_012047.3:g.33288_33290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.450_452del MANE Select	ENSP00000260947.4:p.Ser151del
ENST00000421162.2:c.215+15637_215+15639del	ENSP00000392245.2:n.215+15637_215+15639del
ENST00000613192.2:c.158+27988_158+27990del	ENSP00000483275.2:n.158+27988_158+27990del
ENST00000613374.5:c.158+27988_158+27990del	ENSP00000484464.1:n.158+27988_158+27990del
ENST00000613706.5:c.450_452del	ENSP00000484976.2:p.Ser151del
ENST00000617164.5:c.393_395del	ENSP00000480470.1:p.Ser132del
ENST00000619009.5:c.364+10873_364+10875del	ENSP00000482293.1:n.364+10873_364+10875del
ENST00000650978.1:c.292_294del
ENST00000260947.8:c.450_452del	ENSP00000260947.4:p.Ser151del
ENST00000421162.1:c.215+15637_215+15639del	ENSP00000392245.1:n.215+15637_215+15639del
ENST00000455743.5:c.*70_*72del	ENSP00000412186.1:n.*70_*72del
ENST00000471787.1:n.345_347del
ENST00000613192.1:c.73+27988_73+27990del	ENSP00000483275.1:n.73+27988_73+27990del
ENST00000613374.4:c.158+27988_158+27990del	ENSP00000484464.1:n.158+27988_158+27990del
ENST00000613706.4:c.215+15637_215+15639del	ENSP00000484976.1:n.215+15637_215+15639del
ENST00000617164.4:c.393_395del	ENSP00000480470.1:p.Ser132del
ENST00000619009.4:c.364+10873_364+10875del	ENSP00000482293.1:n.364+10873_364+10875del
ENST00000620057.4:c.364+10873_364+10875del	ENSP00000481988.1:n.364+10873_364+10875del
NM_000465.3:c.450_452del	NP_000456.2:p.Ser151del
NM_001282543.1:c.393_395del	NP_001269472.1:p.Ser132del
NM_001282545.1:c.215+15637_215+15639del	NP_001269474.1:n.215+15637_215+15639del
NM_001282548.1:c.158+27988_158+27990del	NP_001269477.1:n.158+27988_158+27990del
NM_001282549.1:c.364+10873_364+10875del	NP_001269478.1:n.364+10873_364+10875del
NR_104212.1:n.443_445del
NR_104215.1:n.386_388del
NR_104216.1:n.506+10873_506+10875del
XM_011511567.1:c.396_398del	XP_011509869.1:p.Ser133del
XM_011511568.1:c.450_452del	XP_011509870.1:p.Ser151del
XM_017004613.1:c.549_551del	XP_016860102.1:p.Ser184del
XM_017004614.1:c.549_551del	XP_016860103.1:p.Ser184del
XR_002959322.1:n.640_642del
NM_000465.4:c.450_452del MANE Select	NP_000456.2:p.Ser151del
NM_001282543.2:c.393_395del	NP_001269472.1:p.Ser132del
NM_001282545.2:c.215+15637_215+15639del	NP_001269474.1:n.215+15637_215+15639del
NM_001282548.2:c.158+27988_158+27990del	NP_001269477.1:n.158+27988_158+27990del
NM_001282549.2:c.364+10873_364+10875del	NP_001269478.1:n.364+10873_364+10875del
NR_104212.2:n.415_417del
NR_104215.2:n.358_360del
NR_104216.2:n.478+10873_478+10875del