Canonical Allele Identifier: CA1327071205

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1801576
• ClinVar RCV Id: RCV003164611
• dbSNP Id: rs1694984038
• gnomAD v3: 2-214780987-T-TC
• gnomAD v4: 2-214780987-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780988dup , CM000664.2:g.214780988dup	GRCh38
NC_000002.11:g.215645712dup , CM000664.1:g.215645712dup	GRCh37
NC_000002.10:g.215353957dup	NCBI36
NG_012047.2:g.33717dup
NG_012047.3:g.33724dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.886dup MANE Select	ENSP00000260947.4:p.Glu296GlyfsTer6
ENST00000421162.2:c.215+16073dup	ENSP00000392245.2:n.215+16073dup
ENST00000613192.2:c.158+28424dup	ENSP00000483275.2:n.158+28424dup
ENST00000613374.5:c.158+28424dup	ENSP00000484464.1:n.158+28424dup
ENST00000613706.5:c.886dup	ENSP00000484976.2:p.Glu296GlyfsTer6
ENST00000617164.5:c.829dup	ENSP00000480470.1:p.Glu277GlyfsTer6
ENST00000619009.5:c.364+11309dup	ENSP00000482293.1:n.364+11309dup
ENST00000650978.1:c.728dup
ENST00000260947.8:c.886dup	ENSP00000260947.4:p.Glu296GlyfsTer6
ENST00000421162.1:c.215+16073dup	ENSP00000392245.1:n.215+16073dup
ENST00000455743.5:c.*506dup	ENSP00000412186.1:n.*506dup
ENST00000471787.1:n.781dup
ENST00000613192.1:c.73+28424dup	ENSP00000483275.1:n.73+28424dup
ENST00000613374.4:c.158+28424dup	ENSP00000484464.1:n.158+28424dup
ENST00000613706.4:c.215+16073dup	ENSP00000484976.1:n.215+16073dup
ENST00000617164.4:c.829dup	ENSP00000480470.1:p.Glu277GlyfsTer6
ENST00000619009.4:c.364+11309dup	ENSP00000482293.1:n.364+11309dup
ENST00000620057.4:c.364+11309dup	ENSP00000481988.1:n.364+11309dup
NM_000465.3:c.886dup	NP_000456.2:p.Glu296GlyfsTer6
NM_001282543.1:c.829dup	NP_001269472.1:p.Glu277GlyfsTer6
NM_001282545.1:c.215+16073dup	NP_001269474.1:n.215+16073dup
NM_001282548.1:c.158+28424dup	NP_001269477.1:n.158+28424dup
NM_001282549.1:c.364+11309dup	NP_001269478.1:n.364+11309dup
NR_104212.1:n.879dup
NR_104215.1:n.822dup
NR_104216.1:n.506+11309dup
XM_011511567.1:c.832dup	XP_011509869.1:p.Glu278GlyfsTer6
XM_011511568.1:c.886dup	XP_011509870.1:p.Glu296GlyfsTer6
XM_017004613.1:c.985dup	XP_016860102.1:p.Glu329GlyfsTer6
XM_017004614.1:c.985dup	XP_016860103.1:p.Glu329GlyfsTer6
XR_002959322.1:n.1076dup
NM_000465.4:c.886dup MANE Select	NP_000456.2:p.Glu296GlyfsTer6
NM_001282543.2:c.829dup	NP_001269472.1:p.Glu277GlyfsTer6
NM_001282545.2:c.215+16073dup	NP_001269474.1:n.215+16073dup
NM_001282548.2:c.158+28424dup	NP_001269477.1:n.158+28424dup
NM_001282549.2:c.364+11309dup	NP_001269478.1:n.364+11309dup
NR_104212.2:n.851dup
NR_104215.2:n.794dup
NR_104216.2:n.478+11309dup