Canonical Allele Identifier: CA2586965576

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781498_214781502del , CM000664.2:g.214781498_214781502del	GRCh38
NC_000002.11:g.215646222_215646226del , CM000664.1:g.215646222_215646226del	GRCh37
NC_000002.10:g.215354467_215354471del	NCBI36
NG_012047.2:g.33204_33208del
NG_012047.3:g.33211_33215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.373_377del MANE Select	ENSP00000260947.4:p.Glu125Ter
ENST00000421162.2:c.215+15560_215+15564del	ENSP00000392245.2:n.215+15560_215+15564del
ENST00000613192.2:c.158+27911_158+27915del	ENSP00000483275.2:n.158+27911_158+27915del
ENST00000613374.5:c.158+27911_158+27915del	ENSP00000484464.1:n.158+27911_158+27915del
ENST00000613706.5:c.373_377del	ENSP00000484976.2:p.Glu125Ter
ENST00000617164.5:c.316_320del	ENSP00000480470.1:p.Glu106Ter
ENST00000619009.5:c.364+10796_364+10800del	ENSP00000482293.1:n.364+10796_364+10800del
ENST00000650978.1:c.215_219del
ENST00000260947.8:c.373_377del	ENSP00000260947.4:p.Glu125Ter
ENST00000421162.1:c.215+15560_215+15564del	ENSP00000392245.1:n.215+15560_215+15564del
ENST00000455743.5:c.224_228del	ENSP00000412186.1:p.Arg75IlefsTer?
ENST00000471787.1:n.268_272del
ENST00000613192.1:c.73+27911_73+27915del	ENSP00000483275.1:n.73+27911_73+27915del
ENST00000613374.4:c.158+27911_158+27915del	ENSP00000484464.1:n.158+27911_158+27915del
ENST00000613706.4:c.215+15560_215+15564del	ENSP00000484976.1:n.215+15560_215+15564del
ENST00000617164.4:c.316_320del	ENSP00000480470.1:p.Glu106Ter
ENST00000619009.4:c.364+10796_364+10800del	ENSP00000482293.1:n.364+10796_364+10800del
ENST00000620057.4:c.364+10796_364+10800del	ENSP00000481988.1:n.364+10796_364+10800del
NM_000465.3:c.373_377del	NP_000456.2:p.Glu125Ter
NM_001282543.1:c.316_320del	NP_001269472.1:p.Glu106Ter
NM_001282545.1:c.215+15560_215+15564del	NP_001269474.1:n.215+15560_215+15564del
NM_001282548.1:c.158+27911_158+27915del	NP_001269477.1:n.158+27911_158+27915del
NM_001282549.1:c.364+10796_364+10800del	NP_001269478.1:n.364+10796_364+10800del
NR_104212.1:n.366_370del
NR_104215.1:n.309_313del
NR_104216.1:n.506+10796_506+10800del
XM_011511567.1:c.319_323del	XP_011509869.1:p.Glu107Ter
XM_011511568.1:c.373_377del	XP_011509870.1:p.Glu125Ter
XM_017004613.1:c.472_476del	XP_016860102.1:p.Glu158Ter
XM_017004614.1:c.472_476del	XP_016860103.1:p.Glu158Ter
XR_002959322.1:n.563_567del
NM_000465.4:c.373_377del MANE Select	NP_000456.2:p.Glu125Ter
NM_001282543.2:c.316_320del	NP_001269472.1:p.Glu106Ter
NM_001282545.2:c.215+15560_215+15564del	NP_001269474.1:n.215+15560_215+15564del
NM_001282548.2:c.158+27911_158+27915del	NP_001269477.1:n.158+27911_158+27915del
NM_001282549.2:c.364+10796_364+10800del	NP_001269478.1:n.364+10796_364+10800del
NR_104212.2:n.338_342del
NR_104215.2:n.281_285del
NR_104216.2:n.478+10796_478+10800del