Canonical Allele Identifier: CA2582342116

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2584147
• ClinVar RCV Id: RCV003335595

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780987_214780991del , CM000664.2:g.214780987_214780991del	GRCh38
NC_000002.11:g.215645711_215645715del , CM000664.1:g.215645711_215645715del	GRCh37
NC_000002.10:g.215353956_215353960del	NCBI36
NG_012047.2:g.33715_33719del
NG_012047.3:g.33722_33726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.884_888del MANE Select	ENSP00000260947.4:p.Asn295SerfsTer5
ENST00000421162.2:c.215+16071_215+16075del	ENSP00000392245.2:n.215+16071_215+16075del
ENST00000613192.2:c.158+28422_158+28426del	ENSP00000483275.2:n.158+28422_158+28426del
ENST00000613374.5:c.158+28422_158+28426del	ENSP00000484464.1:n.158+28422_158+28426del
ENST00000613706.5:c.884_888del	ENSP00000484976.2:p.Asn295SerfsTer5
ENST00000617164.5:c.827_831del	ENSP00000480470.1:p.Asn276SerfsTer5
ENST00000619009.5:c.364+11307_364+11311del	ENSP00000482293.1:n.364+11307_364+11311del
ENST00000650978.1:c.726_730del
ENST00000260947.8:c.884_888del	ENSP00000260947.4:p.Asn295SerfsTer5
ENST00000421162.1:c.215+16071_215+16075del	ENSP00000392245.1:n.215+16071_215+16075del
ENST00000455743.5:c.*504_*508del	ENSP00000412186.1:n.*504_*508del
ENST00000471787.1:n.779_783del
ENST00000613192.1:c.73+28422_73+28426del	ENSP00000483275.1:n.73+28422_73+28426del
ENST00000613374.4:c.158+28422_158+28426del	ENSP00000484464.1:n.158+28422_158+28426del
ENST00000613706.4:c.215+16071_215+16075del	ENSP00000484976.1:n.215+16071_215+16075del
ENST00000617164.4:c.827_831del	ENSP00000480470.1:p.Asn276SerfsTer5
ENST00000619009.4:c.364+11307_364+11311del	ENSP00000482293.1:n.364+11307_364+11311del
ENST00000620057.4:c.364+11307_364+11311del	ENSP00000481988.1:n.364+11307_364+11311del
NM_000465.3:c.884_888del	NP_000456.2:p.Asn295SerfsTer5
NM_001282543.1:c.827_831del	NP_001269472.1:p.Asn276SerfsTer5
NM_001282545.1:c.215+16071_215+16075del	NP_001269474.1:n.215+16071_215+16075del
NM_001282548.1:c.158+28422_158+28426del	NP_001269477.1:n.158+28422_158+28426del
NM_001282549.1:c.364+11307_364+11311del	NP_001269478.1:n.364+11307_364+11311del
NR_104212.1:n.877_881del
NR_104215.1:n.820_824del
NR_104216.1:n.506+11307_506+11311del
XM_011511567.1:c.830_834del	XP_011509869.1:p.Asn277SerfsTer5
XM_011511568.1:c.884_888del	XP_011509870.1:p.Asn295SerfsTer5
XM_017004613.1:c.983_987del	XP_016860102.1:p.Asn328SerfsTer5
XM_017004614.1:c.983_987del	XP_016860103.1:p.Asn328SerfsTer5
XR_002959322.1:n.1074_1078del
NM_000465.4:c.884_888del MANE Select	NP_000456.2:p.Asn295SerfsTer5
NM_001282543.2:c.827_831del	NP_001269472.1:p.Asn276SerfsTer5
NM_001282545.2:c.215+16071_215+16075del	NP_001269474.1:n.215+16071_215+16075del
NM_001282548.2:c.158+28422_158+28426del	NP_001269477.1:n.158+28422_158+28426del
NM_001282549.2:c.364+11307_364+11311del	NP_001269478.1:n.364+11307_364+11311del
NR_104212.2:n.849_853del
NR_104215.2:n.792_796del
NR_104216.2:n.478+11307_478+11311del