Canonical Allele Identifier: CA916082285

Gene: BARD1

Linked Data

• ClinVar Variation Id: 853796
• ClinVar RCV Id: RCV001058680
• dbSNP Id: rs1694972839

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780872del , CM000664.2:g.214780872del	GRCh38
NC_000002.11:g.215645596del , CM000664.1:g.215645596del	GRCh37
NC_000002.10:g.215353841del	NCBI36
NG_012047.2:g.33833del
NG_012047.3:g.33840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1002del MANE Select	ENSP00000260947.4:p.Arg335AspfsTer7
ENST00000421162.2:c.215+16189del	ENSP00000392245.2:n.215+16189del
ENST00000613192.2:c.158+28540del	ENSP00000483275.2:n.158+28540del
ENST00000613374.5:c.159-28317del	ENSP00000484464.1:n.159-28317del
ENST00000613706.5:c.906+96del	ENSP00000484976.2:n.906+96del
ENST00000617164.5:c.945del	ENSP00000480470.1:p.Arg316AspfsTer7
ENST00000619009.5:c.364+11425del	ENSP00000482293.1:n.364+11425del
ENST00000650978.1:c.844del
ENST00000260947.8:c.1002del	ENSP00000260947.4:p.Arg335AspfsTer7
ENST00000421162.1:c.215+16189del	ENSP00000392245.1:n.215+16189del
ENST00000455743.5:c.*622del	ENSP00000412186.1:n.*622del
ENST00000613192.1:c.73+28540del	ENSP00000483275.1:n.73+28540del
ENST00000613374.4:c.159-28317del	ENSP00000484464.1:n.159-28317del
ENST00000613706.4:c.215+16189del	ENSP00000484976.1:n.215+16189del
ENST00000617164.4:c.945del	ENSP00000480470.1:p.Arg316AspfsTer7
ENST00000619009.4:c.364+11425del	ENSP00000482293.1:n.364+11425del
ENST00000620057.4:c.364+11425del	ENSP00000481988.1:n.364+11425del
NM_000465.3:c.1002del	NP_000456.2:p.Arg335AspfsTer7
NM_001282543.1:c.945del	NP_001269472.1:p.Arg316AspfsTer7
NM_001282545.1:c.215+16189del	NP_001269474.1:n.215+16189del
NM_001282548.1:c.159-28317del	NP_001269477.1:n.159-28317del
NM_001282549.1:c.364+11425del	NP_001269478.1:n.364+11425del
NR_104212.1:n.995del
NR_104215.1:n.938del
NR_104216.1:n.506+11425del
XM_011511567.1:c.948del	XP_011509869.1:p.Arg317AspfsTer7
XM_011511568.1:c.1002del	XP_011509870.1:p.Arg335AspfsTer7
XM_017004613.1:c.1101del	XP_016860102.1:p.Arg368AspfsTer7
XM_017004614.1:c.1101del	XP_016860103.1:p.Arg368AspfsTer7
XR_002959322.1:n.1192del
NM_000465.4:c.1002del MANE Select	NP_000456.2:p.Arg335AspfsTer7
NM_001282543.2:c.945del	NP_001269472.1:p.Arg316AspfsTer7
NM_001282545.2:c.215+16189del	NP_001269474.1:n.215+16189del
NM_001282548.2:c.159-28317del	NP_001269477.1:n.159-28317del
NM_001282549.2:c.364+11425del	NP_001269478.1:n.364+11425del
NR_104212.2:n.967del
NR_104215.2:n.910del
NR_104216.2:n.478+11425del