Canonical Allele Identifier: CA2580065604

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1792527
• ClinVar RCV Id: RCV002455672

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792399_214792411del , CM000664.2:g.214792399_214792411del	GRCh38
NC_000002.11:g.215657123_215657135del , CM000664.1:g.215657123_215657135del	GRCh37
NC_000002.10:g.215365368_215365380del	NCBI36
NG_012047.2:g.22296_22308del
NG_012047.3:g.22303_22315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.252_264del MANE Select	ENSP00000260947.4:p.Val85ArgfsTer7
ENST00000421162.2:c.215+4652_215+4664del	ENSP00000392245.2:n.215+4652_215+4664del
ENST00000613192.2:c.158+17003_158+17015del	ENSP00000483275.2:n.158+17003_158+17015del
ENST00000613374.5:c.158+17003_158+17015del	ENSP00000484464.1:n.158+17003_158+17015del
ENST00000613706.5:c.252_264del	ENSP00000484976.2:p.Val85ArgfsTer7
ENST00000617164.5:c.195_207del	ENSP00000480470.1:p.Val66ArgfsTer7
ENST00000619009.5:c.252_264del	ENSP00000482293.1:p.Val85ArgfsTer7
ENST00000650978.1:c.94_106del
ENST00000260947.8:c.252_264del	ENSP00000260947.4:p.Val85ArgfsTer7
ENST00000421162.1:c.215+4652_215+4664del	ENSP00000392245.1:n.215+4652_215+4664del
ENST00000455743.5:c.215+4652_215+4664del	ENSP00000412186.1:n.215+4652_215+4664del
ENST00000471787.1:n.260-10900_260-10888del
ENST00000613192.1:c.73+17003_73+17015del	ENSP00000483275.1:n.73+17003_73+17015del
ENST00000613374.4:c.158+17003_158+17015del	ENSP00000484464.1:n.158+17003_158+17015del
ENST00000613706.4:c.215+4652_215+4664del	ENSP00000484976.1:n.215+4652_215+4664del
ENST00000617164.4:c.195_207del	ENSP00000480470.1:p.Val66ArgfsTer7
ENST00000619009.4:c.252_264del	ENSP00000482293.1:p.Val85ArgfsTer7
ENST00000620057.4:c.252_264del	ENSP00000481988.1:p.Val85ArgfsTer7
NM_000465.3:c.252_264del	NP_000456.2:p.Val85ArgfsTer7
NM_001282543.1:c.195_207del	NP_001269472.1:p.Val66ArgfsTer7
NM_001282545.1:c.215+4652_215+4664del	NP_001269474.1:n.215+4652_215+4664del
NM_001282548.1:c.158+17003_158+17015del	NP_001269477.1:n.158+17003_158+17015del
NM_001282549.1:c.252_264del	NP_001269478.1:p.Val85ArgfsTer7
NR_104212.1:n.357+4652_357+4664del
NR_104215.1:n.301-10900_301-10888del
NR_104216.1:n.394_406del
XM_011511567.1:c.198_210del	XP_011509869.1:p.Val67ArgfsTer7
XM_011511568.1:c.252_264del	XP_011509870.1:p.Val85ArgfsTer7
XM_017004613.1:c.351_363del	XP_016860102.1:p.Val118ArgfsTer7
XM_017004614.1:c.351_363del	XP_016860103.1:p.Val118ArgfsTer7
XR_002959322.1:n.442_454del
NM_000465.4:c.252_264del MANE Select	NP_000456.2:p.Val85ArgfsTer7
NM_001282543.2:c.195_207del	NP_001269472.1:p.Val66ArgfsTer7
NM_001282545.2:c.215+4652_215+4664del	NP_001269474.1:n.215+4652_215+4664del
NM_001282548.2:c.158+17003_158+17015del	NP_001269477.1:n.158+17003_158+17015del
NM_001282549.2:c.252_264del	NP_001269478.1:p.Val85ArgfsTer7
NR_104212.2:n.329+4652_329+4664del
NR_104215.2:n.273-10900_273-10888del
NR_104216.2:n.366_378del