Canonical Allele Identifier: CA2695197120

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2679940
• ClinVar RCV Id: RCV003465003

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781383del , CM000664.2:g.214781383del	GRCh38
NC_000002.11:g.215646107del , CM000664.1:g.215646107del	GRCh37
NC_000002.10:g.215354352del	NCBI36
NG_012047.2:g.33324del
NG_012047.3:g.33331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.493del MANE Select	ENSP00000260947.4:p.Thr165ProfsTer5
ENST00000421162.2:c.215+15680del	ENSP00000392245.2:n.215+15680del
ENST00000613192.2:c.158+28031del	ENSP00000483275.2:n.158+28031del
ENST00000613374.5:c.158+28031del	ENSP00000484464.1:n.158+28031del
ENST00000613706.5:c.493del	ENSP00000484976.2:p.Thr165ProfsTer5
ENST00000617164.5:c.436del	ENSP00000480470.1:p.Thr146ProfsTer5
ENST00000619009.5:c.364+10916del	ENSP00000482293.1:n.364+10916del
ENST00000650978.1:c.335del
ENST00000260947.8:c.493del	ENSP00000260947.4:p.Thr165ProfsTer5
ENST00000421162.1:c.215+15680del	ENSP00000392245.1:n.215+15680del
ENST00000455743.5:c.*113del	ENSP00000412186.1:n.*113del
ENST00000471787.1:n.388del
ENST00000613192.1:c.73+28031del	ENSP00000483275.1:n.73+28031del
ENST00000613374.4:c.158+28031del	ENSP00000484464.1:n.158+28031del
ENST00000613706.4:c.215+15680del	ENSP00000484976.1:n.215+15680del
ENST00000617164.4:c.436del	ENSP00000480470.1:p.Thr146ProfsTer5
ENST00000619009.4:c.364+10916del	ENSP00000482293.1:n.364+10916del
ENST00000620057.4:c.364+10916del	ENSP00000481988.1:n.364+10916del
NM_000465.3:c.493del	NP_000456.2:p.Thr165ProfsTer5
NM_001282543.1:c.436del	NP_001269472.1:p.Thr146ProfsTer5
NM_001282545.1:c.215+15680del	NP_001269474.1:n.215+15680del
NM_001282548.1:c.158+28031del	NP_001269477.1:n.158+28031del
NM_001282549.1:c.364+10916del	NP_001269478.1:n.364+10916del
NR_104212.1:n.486del
NR_104215.1:n.429del
NR_104216.1:n.506+10916del
XM_011511567.1:c.439del	XP_011509869.1:p.Thr147ProfsTer5
XM_011511568.1:c.493del	XP_011509870.1:p.Thr165ProfsTer5
XM_017004613.1:c.592del	XP_016860102.1:p.Thr198ProfsTer5
XM_017004614.1:c.592del	XP_016860103.1:p.Thr198ProfsTer5
XR_002959322.1:n.683del
NM_000465.4:c.493del MANE Select	NP_000456.2:p.Thr165ProfsTer5
NM_001282543.2:c.436del	NP_001269472.1:p.Thr146ProfsTer5
NM_001282545.2:c.215+15680del	NP_001269474.1:n.215+15680del
NM_001282548.2:c.158+28031del	NP_001269477.1:n.158+28031del
NM_001282549.2:c.364+10916del	NP_001269478.1:n.364+10916del
NR_104212.2:n.458del
NR_104215.2:n.401del
NR_104216.2:n.478+10916del