Canonical Allele Identifier: CA2582342119

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583323
• ClinVar RCV Id: RCV003336994

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792359del , CM000664.2:g.214792359del	GRCh38
NC_000002.11:g.215657083del , CM000664.1:g.215657083del	GRCh37
NC_000002.10:g.215365328del	NCBI36
NG_012047.2:g.22346del
NG_012047.3:g.22353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.302del MANE Select	ENSP00000260947.4:p.Leu101ArgfsTer4
ENST00000421162.2:c.215+4702del	ENSP00000392245.2:n.215+4702del
ENST00000613192.2:c.158+17053del	ENSP00000483275.2:n.158+17053del
ENST00000613374.5:c.158+17053del	ENSP00000484464.1:n.158+17053del
ENST00000613706.5:c.302del	ENSP00000484976.2:p.Leu101ArgfsTer4
ENST00000617164.5:c.245del	ENSP00000480470.1:p.Leu82ArgfsTer4
ENST00000619009.5:c.302del	ENSP00000482293.1:p.Leu101ArgfsTer4
ENST00000650978.1:c.144del
ENST00000260947.8:c.302del	ENSP00000260947.4:p.Leu101ArgfsTer4
ENST00000421162.1:c.215+4702del	ENSP00000392245.1:n.215+4702del
ENST00000455743.5:c.215+4702del	ENSP00000412186.1:n.215+4702del
ENST00000471787.1:n.260-10850del
ENST00000613192.1:c.73+17053del	ENSP00000483275.1:n.73+17053del
ENST00000613374.4:c.158+17053del	ENSP00000484464.1:n.158+17053del
ENST00000613706.4:c.215+4702del	ENSP00000484976.1:n.215+4702del
ENST00000617164.4:c.245del	ENSP00000480470.1:p.Leu82ArgfsTer4
ENST00000619009.4:c.302del	ENSP00000482293.1:p.Leu101ArgfsTer4
ENST00000620057.4:c.302del	ENSP00000481988.1:p.Leu101ArgfsTer4
NM_000465.3:c.302del	NP_000456.2:p.Leu101ArgfsTer4
NM_001282543.1:c.245del	NP_001269472.1:p.Leu82ArgfsTer4
NM_001282545.1:c.215+4702del	NP_001269474.1:n.215+4702del
NM_001282548.1:c.158+17053del	NP_001269477.1:n.158+17053del
NM_001282549.1:c.302del	NP_001269478.1:p.Leu101ArgfsTer4
NR_104212.1:n.357+4702del
NR_104215.1:n.301-10850del
NR_104216.1:n.444del
XM_011511567.1:c.248del	XP_011509869.1:p.Leu83ArgfsTer4
XM_011511568.1:c.302del	XP_011509870.1:p.Leu101ArgfsTer4
XM_017004613.1:c.401del	XP_016860102.1:p.Leu134ArgfsTer4
XM_017004614.1:c.401del	XP_016860103.1:p.Leu134ArgfsTer4
XR_002959322.1:n.492del
NM_000465.4:c.302del MANE Select	NP_000456.2:p.Leu101ArgfsTer4
NM_001282543.2:c.245del	NP_001269472.1:p.Leu82ArgfsTer4
NM_001282545.2:c.215+4702del	NP_001269474.1:n.215+4702del
NM_001282548.2:c.158+17053del	NP_001269477.1:n.158+17053del
NM_001282549.2:c.302del	NP_001269478.1:p.Leu101ArgfsTer4
NR_104212.2:n.329+4702del
NR_104215.2:n.273-10850del
NR_104216.2:n.416del