Canonical Allele Identifier: CA915941689

Gene: BARD1

Linked Data

• ClinVar Variation Id: 690292
• ClinVar RCV Id: RCV000851188
• dbSNP Id: rs1574818832

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781002del , CM000664.2:g.214781002del	GRCh38
NC_000002.11:g.215645726del , CM000664.1:g.215645726del	GRCh37
NC_000002.10:g.215353971del	NCBI36
NG_012047.2:g.33703del
NG_012047.3:g.33710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.872del MANE Select	ENSP00000260947.4:p.Thr291IlefsTer7
ENST00000421162.2:c.215+16059del	ENSP00000392245.2:n.215+16059del
ENST00000613192.2:c.158+28410del	ENSP00000483275.2:n.158+28410del
ENST00000613374.5:c.158+28410del	ENSP00000484464.1:n.158+28410del
ENST00000613706.5:c.872del	ENSP00000484976.2:p.Thr291IlefsTer7
ENST00000617164.5:c.815del	ENSP00000480470.1:p.Thr272IlefsTer7
ENST00000619009.5:c.364+11295del	ENSP00000482293.1:n.364+11295del
ENST00000650978.1:c.714del
ENST00000260947.8:c.872del	ENSP00000260947.4:p.Thr291IlefsTer7
ENST00000421162.1:c.215+16059del	ENSP00000392245.1:n.215+16059del
ENST00000455743.5:c.*492del	ENSP00000412186.1:n.*492del
ENST00000471787.1:n.767del
ENST00000613192.1:c.73+28410del	ENSP00000483275.1:n.73+28410del
ENST00000613374.4:c.158+28410del	ENSP00000484464.1:n.158+28410del
ENST00000613706.4:c.215+16059del	ENSP00000484976.1:n.215+16059del
ENST00000617164.4:c.815del	ENSP00000480470.1:p.Thr272IlefsTer7
ENST00000619009.4:c.364+11295del	ENSP00000482293.1:n.364+11295del
ENST00000620057.4:c.364+11295del	ENSP00000481988.1:n.364+11295del
NM_000465.3:c.872del	NP_000456.2:p.Thr291IlefsTer7
NM_001282543.1:c.815del	NP_001269472.1:p.Thr272IlefsTer7
NM_001282545.1:c.215+16059del	NP_001269474.1:n.215+16059del
NM_001282548.1:c.158+28410del	NP_001269477.1:n.158+28410del
NM_001282549.1:c.364+11295del	NP_001269478.1:n.364+11295del
NR_104212.1:n.865del
NR_104215.1:n.808del
NR_104216.1:n.506+11295del
XM_011511567.1:c.818del	XP_011509869.1:p.Thr273IlefsTer7
XM_011511568.1:c.872del	XP_011509870.1:p.Thr291IlefsTer7
XM_017004613.1:c.971del	XP_016860102.1:p.Thr324IlefsTer7
XM_017004614.1:c.971del	XP_016860103.1:p.Thr324IlefsTer7
XR_002959322.1:n.1062del
NM_000465.4:c.872del MANE Select	NP_000456.2:p.Thr291IlefsTer7
NM_001282543.2:c.815del	NP_001269472.1:p.Thr272IlefsTer7
NM_001282545.2:c.215+16059del	NP_001269474.1:n.215+16059del
NM_001282548.2:c.158+28410del	NP_001269477.1:n.158+28410del
NM_001282549.2:c.364+11295del	NP_001269478.1:n.364+11295del
NR_104212.2:n.837del
NR_104215.2:n.780del
NR_104216.2:n.478+11295del