Canonical Allele Identifier: CA2580065682

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2019523
• ClinVar RCV Id: RCV002871087

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781156_214781188del , CM000664.2:g.214781156_214781188del	GRCh38
NC_000002.11:g.215645880_215645912del , CM000664.1:g.215645880_215645912del	GRCh37
NC_000002.10:g.215354125_215354157del	NCBI36
NG_012047.2:g.33518_33550del
NG_012047.3:g.33525_33557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.687_719del MANE Select	ENSP00000260947.4:p.Phe229_Val240delinsLeu
ENST00000421162.2:c.215+15874_215+15906del	ENSP00000392245.2:n.215+15874_215+15906del
ENST00000613192.2:c.158+28225_158+28257del	ENSP00000483275.2:n.158+28225_158+28257del
ENST00000613374.5:c.158+28225_158+28257del	ENSP00000484464.1:n.158+28225_158+28257del
ENST00000613706.5:c.687_719del	ENSP00000484976.2:p.Phe229_Val240delinsLeu
ENST00000617164.5:c.630_662del	ENSP00000480470.1:p.Phe210_Val221delinsLeu
ENST00000619009.5:c.364+11110_364+11142del	ENSP00000482293.1:n.364+11110_364+11142del
ENST00000650978.1:c.529_561del
ENST00000260947.8:c.687_719del	ENSP00000260947.4:p.Phe229_Val240delinsLeu
ENST00000421162.1:c.215+15874_215+15906del	ENSP00000392245.1:n.215+15874_215+15906del
ENST00000455743.5:c.*307_*339del	ENSP00000412186.1:n.*307_*339del
ENST00000471787.1:n.582_614del
ENST00000613192.1:c.73+28225_73+28257del	ENSP00000483275.1:n.73+28225_73+28257del
ENST00000613374.4:c.158+28225_158+28257del	ENSP00000484464.1:n.158+28225_158+28257del
ENST00000613706.4:c.215+15874_215+15906del	ENSP00000484976.1:n.215+15874_215+15906del
ENST00000617164.4:c.630_662del	ENSP00000480470.1:p.Phe210_Val221delinsLeu
ENST00000619009.4:c.364+11110_364+11142del	ENSP00000482293.1:n.364+11110_364+11142del
ENST00000620057.4:c.364+11110_364+11142del	ENSP00000481988.1:n.364+11110_364+11142del
NM_000465.3:c.687_719del	NP_000456.2:p.Phe229_Val240delinsLeu
NM_001282543.1:c.630_662del	NP_001269472.1:p.Phe210_Val221delinsLeu
NM_001282545.1:c.215+15874_215+15906del	NP_001269474.1:n.215+15874_215+15906del
NM_001282548.1:c.158+28225_158+28257del	NP_001269477.1:n.158+28225_158+28257del
NM_001282549.1:c.364+11110_364+11142del	NP_001269478.1:n.364+11110_364+11142del
NR_104212.1:n.680_712del
NR_104215.1:n.623_655del
NR_104216.1:n.506+11110_506+11142del
XM_011511567.1:c.633_665del	XP_011509869.1:p.Phe211_Val222delinsLeu
XM_011511568.1:c.687_719del	XP_011509870.1:p.Phe229_Val240delinsLeu
XM_017004613.1:c.786_818del	XP_016860102.1:p.Phe262_Val273delinsLeu
XM_017004614.1:c.786_818del	XP_016860103.1:p.Phe262_Val273delinsLeu
XR_002959322.1:n.877_909del
NM_000465.4:c.687_719del MANE Select	NP_000456.2:p.Phe229_Val240delinsLeu
NM_001282543.2:c.630_662del	NP_001269472.1:p.Phe210_Val221delinsLeu
NM_001282545.2:c.215+15874_215+15906del	NP_001269474.1:n.215+15874_215+15906del
NM_001282548.2:c.158+28225_158+28257del	NP_001269477.1:n.158+28225_158+28257del
NM_001282549.2:c.364+11110_364+11142del	NP_001269478.1:n.364+11110_364+11142del
NR_104212.2:n.652_684del
NR_104215.2:n.595_627del
NR_104216.2:n.478+11110_478+11142del