Canonical Allele Identifier: CA658657213
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 479126
ClinVar RCV Id: RCV000571003
dbSNP Id: rs1553624758

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792369_214792372del , CM000664.2:g.214792369_214792372del GRCh38
NC_000002.11:g.215657093_215657096del , CM000664.1:g.215657093_215657096del GRCh37
NC_000002.10:g.215365338_215365341del NCBI36
NG_012047.2:g.22336_22339del
NG_012047.3:g.22343_22346del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.292_295del MANE Select ENSP00000260947.4:p.Asn98AspfsTer6
ENST00000421162.2:c.215+4692_215+4695del ENSP00000392245.2:n.215+4692_215+4695del
ENST00000613192.2:c.158+17043_158+17046del ENSP00000483275.2:n.158+17043_158+17046de...
ENST00000613374.5:c.158+17043_158+17046del ENSP00000484464.1:n.158+17043_158+17046de...
ENST00000613706.5:c.292_295del ENSP00000484976.2:p.Asn98AspfsTer6
ENST00000617164.5:c.235_238del ENSP00000480470.1:p.Asn79AspfsTer6
ENST00000619009.5:c.292_295del ENSP00000482293.1:p.Asn98AspfsTer6
ENST00000650978.1:c.134_137del
ENST00000260947.8:c.292_295del ENSP00000260947.4:p.Asn98AspfsTer6
ENST00000421162.1:c.215+4692_215+4695del ENSP00000392245.1:n.215+4692_215+4695del
ENST00000455743.5:c.215+4692_215+4695del ENSP00000412186.1:n.215+4692_215+4695del
ENST00000471787.1:n.260-10860_260-10857del
ENST00000613192.1:c.73+17043_73+17046del ENSP00000483275.1:n.73+17043_73+17046del
ENST00000613374.4:c.158+17043_158+17046del ENSP00000484464.1:n.158+17043_158+17046de...
ENST00000613706.4:c.215+4692_215+4695del ENSP00000484976.1:n.215+4692_215+4695del
ENST00000617164.4:c.235_238del ENSP00000480470.1:p.Asn79AspfsTer6
ENST00000619009.4:c.292_295del ENSP00000482293.1:p.Asn98AspfsTer6
ENST00000620057.4:c.292_295del ENSP00000481988.1:p.Asn98AspfsTer6
NM_000465.3:c.292_295del NP_000456.2:p.Asn98AspfsTer6
NM_001282543.1:c.235_238del NP_001269472.1:p.Asn79AspfsTer6
NM_001282545.1:c.215+4692_215+4695del NP_001269474.1:n.215+4692_215+4695del
NM_001282548.1:c.158+17043_158+17046del NP_001269477.1:n.158+17043_158+17046del
NM_001282549.1:c.292_295del NP_001269478.1:p.Asn98AspfsTer6
NR_104212.1:n.357+4692_357+4695del
NR_104215.1:n.301-10860_301-10857del
NR_104216.1:n.434_437del
XM_011511567.1:c.238_241del XP_011509869.1:p.Asn80AspfsTer6
XM_011511568.1:c.292_295del XP_011509870.1:p.Asn98AspfsTer6
XM_017004613.1:c.391_394del XP_016860102.1:p.Asn131AspfsTer6
XM_017004614.1:c.391_394del XP_016860103.1:p.Asn131AspfsTer6
XR_002959322.1:n.482_485del
NM_000465.4:c.292_295del MANE Select NP_000456.2:p.Asn98AspfsTer6
NM_001282543.2:c.235_238del NP_001269472.1:p.Asn79AspfsTer6
NM_001282545.2:c.215+4692_215+4695del NP_001269474.1:n.215+4692_215+4695del
NM_001282548.2:c.158+17043_158+17046del NP_001269477.1:n.158+17043_158+17046del
NM_001282549.2:c.292_295del NP_001269478.1:p.Asn98AspfsTer6
NR_104212.2:n.329+4692_329+4695del
NR_104215.2:n.273-10860_273-10857del
NR_104216.2:n.406_409del