Canonical Allele Identifier: CA891843069

Gene: BARD1

Linked Data

• ClinVar Variation Id: 565984
• ClinVar RCV Id: RCV000685682 ; RCV002442415
• dbSNP Id: rs1559437264
• MyVariant Identifiers: chr2:g.215657159del (hg19) ; chr2:g.214792435del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792436del , CM000664.2:g.214792436del	GRCh38
NC_000002.11:g.215657160del , CM000664.1:g.215657160del	GRCh37
NC_000002.10:g.215365405del	NCBI36
NG_012047.2:g.22270del
NG_012047.3:g.22277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.226del MANE Select	ENSP00000260947.4:p.Ser76ValfsTer20
ENST00000421162.2:c.215+4626del	ENSP00000392245.2:n.215+4626del
ENST00000613192.2:c.158+16977del	ENSP00000483275.2:n.158+16977del
ENST00000613374.5:c.158+16977del	ENSP00000484464.1:n.158+16977del
ENST00000613706.5:c.226del	ENSP00000484976.2:p.Ser76ValfsTer20
ENST00000617164.5:c.169del	ENSP00000480470.1:p.Ser57ValfsTer20
ENST00000619009.5:c.226del	ENSP00000482293.1:p.Ser76ValfsTer20
ENST00000650978.1:c.68del
ENST00000260947.8:c.226del	ENSP00000260947.4:p.Ser76ValfsTer20
ENST00000421162.1:c.215+4626del	ENSP00000392245.1:n.215+4626del
ENST00000455743.5:c.215+4626del	ENSP00000412186.1:n.215+4626del
ENST00000471787.1:n.260-10926del
ENST00000613192.1:c.73+16977del	ENSP00000483275.1:n.73+16977del
ENST00000613374.4:c.158+16977del	ENSP00000484464.1:n.158+16977del
ENST00000613706.4:c.215+4626del	ENSP00000484976.1:n.215+4626del
ENST00000617164.4:c.169del	ENSP00000480470.1:p.Ser57ValfsTer20
ENST00000619009.4:c.226del	ENSP00000482293.1:p.Ser76ValfsTer20
ENST00000620057.4:c.226del	ENSP00000481988.1:p.Ser76ValfsTer20
NM_000465.3:c.226del	NP_000456.2:p.Ser76ValfsTer20
NM_001282543.1:c.169del	NP_001269472.1:p.Ser57ValfsTer20
NM_001282545.1:c.215+4626del	NP_001269474.1:n.215+4626del
NM_001282548.1:c.158+16977del	NP_001269477.1:n.158+16977del
NM_001282549.1:c.226del	NP_001269478.1:p.Ser76ValfsTer20
NR_104212.1:n.357+4626del
NR_104215.1:n.301-10926del
NR_104216.1:n.368del
XM_011511567.1:c.172del	XP_011509869.1:p.Ser58ValfsTer20
XM_011511568.1:c.226del	XP_011509870.1:p.Ser76ValfsTer20
XM_017004613.1:c.325del	XP_016860102.1:p.Ser109ValfsTer20
XM_017004614.1:c.325del	XP_016860103.1:p.Ser109ValfsTer20
XR_002959322.1:n.416del
NM_000465.4:c.226del MANE Select	NP_000456.2:p.Ser76ValfsTer20
NM_001282543.2:c.169del	NP_001269472.1:p.Ser57ValfsTer20
NM_001282545.2:c.215+4626del	NP_001269474.1:n.215+4626del
NM_001282548.2:c.158+16977del	NP_001269477.1:n.158+16977del
NM_001282549.2:c.226del	NP_001269478.1:p.Ser76ValfsTer20
NR_104212.2:n.329+4626del
NR_104215.2:n.273-10926del
NR_104216.2:n.340del