Canonical Allele Identifier: CA2695197109

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2679941
• ClinVar RCV Id: RCV003465004

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792442_214792445del , CM000664.2:g.214792442_214792445del	GRCh38
NC_000002.11:g.215657166_215657169del , CM000664.1:g.215657166_215657169del	GRCh37
NC_000002.10:g.215365411_215365414del	NCBI36
NG_012047.2:g.22261_22264del
NG_012047.3:g.22268_22271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.217_220del MANE Select	ENSP00000260947.4:p.Asn73ValfsTer2
ENST00000421162.2:c.215+4617_215+4620del	ENSP00000392245.2:n.215+4617_215+4620del
ENST00000613192.2:c.158+16968_158+16971del	ENSP00000483275.2:n.158+16968_158+16971del
ENST00000613374.5:c.158+16968_158+16971del	ENSP00000484464.1:n.158+16968_158+16971del
ENST00000613706.5:c.217_220del	ENSP00000484976.2:p.Asn73ValfsTer2
ENST00000617164.5:c.160_163del	ENSP00000480470.1:p.Asn54ValfsTer2
ENST00000619009.5:c.217_220del	ENSP00000482293.1:p.Asn73ValfsTer2
ENST00000650978.1:c.59_62del
ENST00000260947.8:c.217_220del	ENSP00000260947.4:p.Asn73ValfsTer2
ENST00000421162.1:c.215+4617_215+4620del	ENSP00000392245.1:n.215+4617_215+4620del
ENST00000455743.5:c.215+4617_215+4620del	ENSP00000412186.1:n.215+4617_215+4620del
ENST00000471787.1:n.260-10935_260-10932del
ENST00000613192.1:c.73+16968_73+16971del	ENSP00000483275.1:n.73+16968_73+16971del
ENST00000613374.4:c.158+16968_158+16971del	ENSP00000484464.1:n.158+16968_158+16971del
ENST00000613706.4:c.215+4617_215+4620del	ENSP00000484976.1:n.215+4617_215+4620del
ENST00000617164.4:c.160_163del	ENSP00000480470.1:p.Asn54ValfsTer2
ENST00000619009.4:c.217_220del	ENSP00000482293.1:p.Asn73ValfsTer2
ENST00000620057.4:c.217_220del	ENSP00000481988.1:p.Asn73ValfsTer2
NM_000465.3:c.217_220del	NP_000456.2:p.Asn73ValfsTer2
NM_001282543.1:c.160_163del	NP_001269472.1:p.Asn54ValfsTer2
NM_001282545.1:c.215+4617_215+4620del	NP_001269474.1:n.215+4617_215+4620del
NM_001282548.1:c.158+16968_158+16971del	NP_001269477.1:n.158+16968_158+16971del
NM_001282549.1:c.217_220del	NP_001269478.1:p.Asn73ValfsTer2
NR_104212.1:n.357+4617_357+4620del
NR_104215.1:n.301-10935_301-10932del
NR_104216.1:n.359_362del
XM_011511567.1:c.163_166del	XP_011509869.1:p.Asn55ValfsTer2
XM_011511568.1:c.217_220del	XP_011509870.1:p.Asn73ValfsTer2
XM_017004613.1:c.316_319del	XP_016860102.1:p.Asn106ValfsTer2
XM_017004614.1:c.316_319del	XP_016860103.1:p.Asn106ValfsTer2
XR_002959322.1:n.407_410del
NM_000465.4:c.217_220del MANE Select	NP_000456.2:p.Asn73ValfsTer2
NM_001282543.2:c.160_163del	NP_001269472.1:p.Asn54ValfsTer2
NM_001282545.2:c.215+4617_215+4620del	NP_001269474.1:n.215+4617_215+4620del
NM_001282548.2:c.158+16968_158+16971del	NP_001269477.1:n.158+16968_158+16971del
NM_001282549.2:c.217_220del	NP_001269478.1:p.Asn73ValfsTer2
NR_104212.2:n.329+4617_329+4620del
NR_104215.2:n.273-10935_273-10932del
NR_104216.2:n.331_334del