Canonical Allele Identifier: CA2582342109

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2584205
• ClinVar RCV Id: RCV003335653

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781386_214781393del , CM000664.2:g.214781386_214781393del	GRCh38
NC_000002.11:g.215646110_215646117del , CM000664.1:g.215646110_215646117del	GRCh37
NC_000002.10:g.215354355_215354362del	NCBI36
NG_012047.2:g.33314_33321del
NG_012047.3:g.33321_33328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.483_490del MANE Select	ENSP00000260947.4:p.Ser162AsnfsTer17
ENST00000421162.2:c.215+15670_215+15677del	ENSP00000392245.2:n.215+15670_215+15677del
ENST00000613192.2:c.158+28021_158+28028del	ENSP00000483275.2:n.158+28021_158+28028del
ENST00000613374.5:c.158+28021_158+28028del	ENSP00000484464.1:n.158+28021_158+28028del
ENST00000613706.5:c.483_490del	ENSP00000484976.2:p.Ser162AsnfsTer17
ENST00000617164.5:c.426_433del	ENSP00000480470.1:p.Ser143AsnfsTer17
ENST00000619009.5:c.364+10906_364+10913del	ENSP00000482293.1:n.364+10906_364+10913del
ENST00000650978.1:c.325_332del
ENST00000260947.8:c.483_490del	ENSP00000260947.4:p.Ser162AsnfsTer17
ENST00000421162.1:c.215+15670_215+15677del	ENSP00000392245.1:n.215+15670_215+15677del
ENST00000455743.5:c.*103_*110del	ENSP00000412186.1:n.*103_*110del
ENST00000471787.1:n.378_385del
ENST00000613192.1:c.73+28021_73+28028del	ENSP00000483275.1:n.73+28021_73+28028del
ENST00000613374.4:c.158+28021_158+28028del	ENSP00000484464.1:n.158+28021_158+28028del
ENST00000613706.4:c.215+15670_215+15677del	ENSP00000484976.1:n.215+15670_215+15677del
ENST00000617164.4:c.426_433del	ENSP00000480470.1:p.Ser143AsnfsTer17
ENST00000619009.4:c.364+10906_364+10913del	ENSP00000482293.1:n.364+10906_364+10913del
ENST00000620057.4:c.364+10906_364+10913del	ENSP00000481988.1:n.364+10906_364+10913del
NM_000465.3:c.483_490del	NP_000456.2:p.Ser162AsnfsTer17
NM_001282543.1:c.426_433del	NP_001269472.1:p.Ser143AsnfsTer17
NM_001282545.1:c.215+15670_215+15677del	NP_001269474.1:n.215+15670_215+15677del
NM_001282548.1:c.158+28021_158+28028del	NP_001269477.1:n.158+28021_158+28028del
NM_001282549.1:c.364+10906_364+10913del	NP_001269478.1:n.364+10906_364+10913del
NR_104212.1:n.476_483del
NR_104215.1:n.419_426del
NR_104216.1:n.506+10906_506+10913del
XM_011511567.1:c.429_436del	XP_011509869.1:p.Ser144AsnfsTer17
XM_011511568.1:c.483_490del	XP_011509870.1:p.Ser162AsnfsTer17
XM_017004613.1:c.582_589del	XP_016860102.1:p.Ser195AsnfsTer17
XM_017004614.1:c.582_589del	XP_016860103.1:p.Ser195AsnfsTer17
XR_002959322.1:n.673_680del
NM_000465.4:c.483_490del MANE Select	NP_000456.2:p.Ser162AsnfsTer17
NM_001282543.2:c.426_433del	NP_001269472.1:p.Ser143AsnfsTer17
NM_001282545.2:c.215+15670_215+15677del	NP_001269474.1:n.215+15670_215+15677del
NM_001282548.2:c.158+28021_158+28028del	NP_001269477.1:n.158+28021_158+28028del
NM_001282549.2:c.364+10906_364+10913del	NP_001269478.1:n.364+10906_364+10913del
NR_104212.2:n.448_455del
NR_104215.2:n.391_398del
NR_104216.2:n.478+10906_478+10913del