Canonical Allele Identifier: CA658657216

Gene: BARD1

Linked Data

• ClinVar Variation Id: 481396
• ClinVar RCV Id: RCV000571407 ; RCV002530247
• dbSNP Id: rs1553624830
• MyVariant Identifiers: chr2:g.215657157_215657160del (hg19) ; chr2:g.214792433_214792436del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792435_214792438del , CM000664.2:g.214792435_214792438del	GRCh38
NC_000002.11:g.215657159_215657162del , CM000664.1:g.215657159_215657162del	GRCh37
NC_000002.10:g.215365404_215365407del	NCBI36
NG_012047.2:g.22269_22272del
NG_012047.3:g.22276_22279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.225_228del MANE Select	ENSP00000260947.4:p.Ser76ThrfsTer19
ENST00000421162.2:c.215+4625_215+4628del	ENSP00000392245.2:n.215+4625_215+4628del
ENST00000613192.2:c.158+16976_158+16979del	ENSP00000483275.2:n.158+16976_158+16979del
ENST00000613374.5:c.158+16976_158+16979del	ENSP00000484464.1:n.158+16976_158+16979del
ENST00000613706.5:c.225_228del	ENSP00000484976.2:p.Ser76ThrfsTer19
ENST00000617164.5:c.168_171del	ENSP00000480470.1:p.Ser57ThrfsTer19
ENST00000619009.5:c.225_228del	ENSP00000482293.1:p.Ser76ThrfsTer19
ENST00000650978.1:c.67_70del
ENST00000260947.8:c.225_228del	ENSP00000260947.4:p.Ser76ThrfsTer19
ENST00000421162.1:c.215+4625_215+4628del	ENSP00000392245.1:n.215+4625_215+4628del
ENST00000455743.5:c.215+4625_215+4628del	ENSP00000412186.1:n.215+4625_215+4628del
ENST00000471787.1:n.260-10927_260-10924del
ENST00000613192.1:c.73+16976_73+16979del	ENSP00000483275.1:n.73+16976_73+16979del
ENST00000613374.4:c.158+16976_158+16979del	ENSP00000484464.1:n.158+16976_158+16979del
ENST00000613706.4:c.215+4625_215+4628del	ENSP00000484976.1:n.215+4625_215+4628del
ENST00000617164.4:c.168_171del	ENSP00000480470.1:p.Ser57ThrfsTer19
ENST00000619009.4:c.225_228del	ENSP00000482293.1:p.Ser76ThrfsTer19
ENST00000620057.4:c.225_228del	ENSP00000481988.1:p.Ser76ThrfsTer19
NM_000465.3:c.225_228del	NP_000456.2:p.Ser76ThrfsTer19
NM_001282543.1:c.168_171del	NP_001269472.1:p.Ser57ThrfsTer19
NM_001282545.1:c.215+4625_215+4628del	NP_001269474.1:n.215+4625_215+4628del
NM_001282548.1:c.158+16976_158+16979del	NP_001269477.1:n.158+16976_158+16979del
NM_001282549.1:c.225_228del	NP_001269478.1:p.Ser76ThrfsTer19
NR_104212.1:n.357+4625_357+4628del
NR_104215.1:n.301-10927_301-10924del
NR_104216.1:n.367_370del
XM_011511567.1:c.171_174del	XP_011509869.1:p.Ser58ThrfsTer19
XM_011511568.1:c.225_228del	XP_011509870.1:p.Ser76ThrfsTer19
XM_017004613.1:c.324_327del	XP_016860102.1:p.Ser109ThrfsTer19
XM_017004614.1:c.324_327del	XP_016860103.1:p.Ser109ThrfsTer19
XR_002959322.1:n.415_418del
NM_000465.4:c.225_228del MANE Select	NP_000456.2:p.Ser76ThrfsTer19
NM_001282543.2:c.168_171del	NP_001269472.1:p.Ser57ThrfsTer19
NM_001282545.2:c.215+4625_215+4628del	NP_001269474.1:n.215+4625_215+4628del
NM_001282548.2:c.158+16976_158+16979del	NP_001269477.1:n.158+16976_158+16979del
NM_001282549.2:c.225_228del	NP_001269478.1:p.Ser76ThrfsTer19
NR_104212.2:n.329+4625_329+4628del
NR_104215.2:n.273-10927_273-10924del
NR_104216.2:n.339_342del