Canonical Allele Identifier: CA2586971186

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728710del , CM000664.2:g.214728710del	GRCh38
NC_000002.11:g.215593434del , CM000664.1:g.215593434del	GRCh37
NC_000002.10:g.215301679del	NCBI36
NG_012047.2:g.85995del
NG_012047.3:g.86002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2300del MANE Select	ENSP00000260947.4:p.Val767GlyfsTer17
ENST00000421162.2:c.947del	ENSP00000392245.2:p.Val316GlyfsTer?
ENST00000613192.2:c.*363del	ENSP00000483275.2:n.*363del
ENST00000613374.5:c.890del	ENSP00000484464.1:p.Val297GlyfsTer17
ENST00000613706.5:c.1892del	ENSP00000484976.2:p.Val631GlyfsTer17
ENST00000617164.5:c.2243del	ENSP00000480470.1:p.Val748GlyfsTer17
ENST00000619009.5:c.761del	ENSP00000482293.1:p.Val254GlyfsTer17
ENST00000650978.1:c.3675del
ENST00000260947.8:c.2300del	ENSP00000260947.4:p.Val767GlyfsTer17
ENST00000432456.5:c.443del
ENST00000455743.5:c.*1920del	ENSP00000412186.1:n.*1920del
ENST00000471590.5:n.635del
ENST00000613192.1:c.470del	ENSP00000483275.1:p.Val157GlyfsTer?
ENST00000613374.4:c.890del	ENSP00000484464.1:p.Val297GlyfsTer17
ENST00000613706.4:c.947del	ENSP00000484976.1:p.Val316GlyfsTer17
ENST00000617164.4:c.2243del	ENSP00000480470.1:p.Val748GlyfsTer17
ENST00000619009.4:c.761del	ENSP00000482293.1:p.Val254GlyfsTer17
ENST00000620057.4:c.*966del	ENSP00000481988.1:n.*966del
NM_000465.3:c.2300del	NP_000456.2:p.Val767GlyfsTer17
NM_001282543.1:c.2243del	NP_001269472.1:p.Val748GlyfsTer17
NM_001282545.1:c.947del	NP_001269474.1:p.Val316GlyfsTer17
NM_001282548.1:c.890del	NP_001269477.1:p.Val297GlyfsTer17
NM_001282549.1:c.761del	NP_001269478.1:p.Val254GlyfsTer17
NR_104212.1:n.2293del
NR_104215.1:n.2236del
NR_104216.1:n.1492del
XM_011511567.1:c.2246del	XP_011509869.1:p.Val749GlyfsTer17
XM_017004613.1:c.2399del	XP_016860102.1:p.Val800GlyfsTer17
XR_002959322.1:n.2666del
NM_000465.4:c.2300del MANE Select	NP_000456.2:p.Val767GlyfsTer17
NM_001282543.2:c.2243del	NP_001269472.1:p.Val748GlyfsTer17
NM_001282545.2:c.947del	NP_001269474.1:p.Val316GlyfsTer17
NM_001282548.2:c.890del	NP_001269477.1:p.Val297GlyfsTer17
NM_001282549.2:c.761del	NP_001269478.1:p.Val254GlyfsTer17
NR_104212.2:n.2265del
NR_104215.2:n.2208del
NR_104216.2:n.1464del