Canonical Allele Identifier: CA2582342092

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583273
• ClinVar RCV Id: RCV003336944

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781140_214781141insATCCA , CM000664.2:g.214781140_214781141insATCCA	GRCh38
NC_000002.11:g.215645864_215645865insATCCA , CM000664.1:g.215645864_215645865insATCCA	GRCh37
NC_000002.10:g.215354109_215354110insATCCA	NCBI36
NG_012047.2:g.33564_33565insTGGAT
NG_012047.3:g.33571_33572insTGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.733_734insTGGAT MANE Select	ENSP00000260947.4:p.Gln245LeufsTer12
ENST00000421162.2:c.215+15920_215+15921insTGGAT	ENSP00000392245.2:n.215+15920_215+15921insTGGAT
ENST00000613192.2:c.158+28271_158+28272insTGGAT	ENSP00000483275.2:n.158+28271_158+28272insTGGAT
ENST00000613374.5:c.158+28271_158+28272insTGGAT	ENSP00000484464.1:n.158+28271_158+28272insTGGAT
ENST00000613706.5:c.733_734insTGGAT	ENSP00000484976.2:p.Gln245LeufsTer12
ENST00000617164.5:c.676_677insTGGAT	ENSP00000480470.1:p.Gln226LeufsTer12
ENST00000619009.5:c.364+11156_364+11157insTGGAT	ENSP00000482293.1:n.364+11156_364+11157insTGGAT
ENST00000650978.1:c.575_576insTGGAT
ENST00000260947.8:c.733_734insTGGAT	ENSP00000260947.4:p.Gln245LeufsTer12
ENST00000421162.1:c.215+15920_215+15921insTGGAT	ENSP00000392245.1:n.215+15920_215+15921insTGGAT
ENST00000455743.5:c.*353_*354insTGGAT	ENSP00000412186.1:n.*353_*354insTGGAT
ENST00000471787.1:n.628_629insTGGAT
ENST00000613192.1:c.73+28271_73+28272insTGGAT	ENSP00000483275.1:n.73+28271_73+28272insTGGAT
ENST00000613374.4:c.158+28271_158+28272insTGGAT	ENSP00000484464.1:n.158+28271_158+28272insTGGAT
ENST00000613706.4:c.215+15920_215+15921insTGGAT	ENSP00000484976.1:n.215+15920_215+15921insTGGAT
ENST00000617164.4:c.676_677insTGGAT	ENSP00000480470.1:p.Gln226LeufsTer12
ENST00000619009.4:c.364+11156_364+11157insTGGAT	ENSP00000482293.1:n.364+11156_364+11157insTGGAT
ENST00000620057.4:c.364+11156_364+11157insTGGAT	ENSP00000481988.1:n.364+11156_364+11157insTGGAT
NM_000465.3:c.733_734insTGGAT	NP_000456.2:p.Gln245LeufsTer12
NM_001282543.1:c.676_677insTGGAT	NP_001269472.1:p.Gln226LeufsTer12
NM_001282545.1:c.215+15920_215+15921insTGGAT	NP_001269474.1:n.215+15920_215+15921insTGGAT
NM_001282548.1:c.158+28271_158+28272insTGGAT	NP_001269477.1:n.158+28271_158+28272insTGGAT
NM_001282549.1:c.364+11156_364+11157insTGGAT	NP_001269478.1:n.364+11156_364+11157insTGGAT
NR_104212.1:n.726_727insTGGAT
NR_104215.1:n.669_670insTGGAT
NR_104216.1:n.506+11156_506+11157insTGGAT
XM_011511567.1:c.679_680insTGGAT	XP_011509869.1:p.Gln227LeufsTer12
XM_011511568.1:c.733_734insTGGAT	XP_011509870.1:p.Gln245LeufsTer12
XM_017004613.1:c.832_833insTGGAT	XP_016860102.1:p.Gln278LeufsTer12
XM_017004614.1:c.832_833insTGGAT	XP_016860103.1:p.Gln278LeufsTer12
XR_002959322.1:n.923_924insTGGAT
NM_000465.4:c.733_734insTGGAT MANE Select	NP_000456.2:p.Gln245LeufsTer12
NM_001282543.2:c.676_677insTGGAT	NP_001269472.1:p.Gln226LeufsTer12
NM_001282545.2:c.215+15920_215+15921insTGGAT	NP_001269474.1:n.215+15920_215+15921insTGGAT
NM_001282548.2:c.158+28271_158+28272insTGGAT	NP_001269477.1:n.158+28271_158+28272insTGGAT
NM_001282549.2:c.364+11156_364+11157insTGGAT	NP_001269478.1:n.364+11156_364+11157insTGGAT
NR_104212.2:n.698_699insTGGAT
NR_104215.2:n.641_642insTGGAT
NR_104216.2:n.478+11156_478+11157insTGGAT