Canonical Allele Identifier: CA2580065704

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1739696
• ClinVar RCV Id: RCV002332033

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781436_214781442del , CM000664.2:g.214781436_214781442del	GRCh38
NC_000002.11:g.215646160_215646166del , CM000664.1:g.215646160_215646166del	GRCh37
NC_000002.10:g.215354405_215354411del	NCBI36
NG_012047.2:g.33263_33269del
NG_012047.3:g.33270_33276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.432_438del MANE Select	ENSP00000260947.4:p.Lys144AsnfsTer13
ENST00000421162.2:c.215+15619_215+15625del	ENSP00000392245.2:n.215+15619_215+15625del
ENST00000613192.2:c.158+27970_158+27976del	ENSP00000483275.2:n.158+27970_158+27976del
ENST00000613374.5:c.158+27970_158+27976del	ENSP00000484464.1:n.158+27970_158+27976del
ENST00000613706.5:c.432_438del	ENSP00000484976.2:p.Lys144AsnfsTer13
ENST00000617164.5:c.375_381del	ENSP00000480470.1:p.Lys125AsnfsTer13
ENST00000619009.5:c.364+10855_364+10861del	ENSP00000482293.1:n.364+10855_364+10861del
ENST00000650978.1:c.274_280del
ENST00000260947.8:c.432_438del	ENSP00000260947.4:p.Lys144AsnfsTer13
ENST00000421162.1:c.215+15619_215+15625del	ENSP00000392245.1:n.215+15619_215+15625del
ENST00000455743.5:c.*52_*58del	ENSP00000412186.1:n.*52_*58del
ENST00000471787.1:n.327_333del
ENST00000613192.1:c.73+27970_73+27976del	ENSP00000483275.1:n.73+27970_73+27976del
ENST00000613374.4:c.158+27970_158+27976del	ENSP00000484464.1:n.158+27970_158+27976del
ENST00000613706.4:c.215+15619_215+15625del	ENSP00000484976.1:n.215+15619_215+15625del
ENST00000617164.4:c.375_381del	ENSP00000480470.1:p.Lys125AsnfsTer13
ENST00000619009.4:c.364+10855_364+10861del	ENSP00000482293.1:n.364+10855_364+10861del
ENST00000620057.4:c.364+10855_364+10861del	ENSP00000481988.1:n.364+10855_364+10861del
NM_000465.3:c.432_438del	NP_000456.2:p.Lys144AsnfsTer13
NM_001282543.1:c.375_381del	NP_001269472.1:p.Lys125AsnfsTer13
NM_001282545.1:c.215+15619_215+15625del	NP_001269474.1:n.215+15619_215+15625del
NM_001282548.1:c.158+27970_158+27976del	NP_001269477.1:n.158+27970_158+27976del
NM_001282549.1:c.364+10855_364+10861del	NP_001269478.1:n.364+10855_364+10861del
NR_104212.1:n.425_431del
NR_104215.1:n.368_374del
NR_104216.1:n.506+10855_506+10861del
XM_011511567.1:c.378_384del	XP_011509869.1:p.Lys126AsnfsTer13
XM_011511568.1:c.432_438del	XP_011509870.1:p.Lys144AsnfsTer13
XM_017004613.1:c.531_537del	XP_016860102.1:p.Lys177AsnfsTer13
XM_017004614.1:c.531_537del	XP_016860103.1:p.Lys177AsnfsTer13
XR_002959322.1:n.622_628del
NM_000465.4:c.432_438del MANE Select	NP_000456.2:p.Lys144AsnfsTer13
NM_001282543.2:c.375_381del	NP_001269472.1:p.Lys125AsnfsTer13
NM_001282545.2:c.215+15619_215+15625del	NP_001269474.1:n.215+15619_215+15625del
NM_001282548.2:c.158+27970_158+27976del	NP_001269477.1:n.158+27970_158+27976del
NM_001282549.2:c.364+10855_364+10861del	NP_001269478.1:n.364+10855_364+10861del
NR_104212.2:n.397_403del
NR_104215.2:n.340_346del
NR_104216.2:n.478+10855_478+10861del