Canonical Allele Identifier: CA913188030

Gene: BARD1

Linked Data

• ClinVar Variation Id: 920974
• ClinVar RCV Id: RCV001180093
• dbSNP Id: rs1695020358

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781339_214781340del , CM000664.2:g.214781339_214781340del	GRCh38
NC_000002.11:g.215646063_215646064del , CM000664.1:g.215646063_215646064del	GRCh37
NC_000002.10:g.215354308_215354309del	NCBI36
NG_012047.2:g.33366_33367del
NG_012047.3:g.33373_33374del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.535_536del MANE Select	ENSP00000260947.4:p.Ser179IlefsTer2
ENST00000421162.2:c.215+15722_215+15723del	ENSP00000392245.2:n.215+15722_215+15723del
ENST00000613192.2:c.158+28073_158+28074del	ENSP00000483275.2:n.158+28073_158+28074del
ENST00000613374.5:c.158+28073_158+28074del	ENSP00000484464.1:n.158+28073_158+28074del
ENST00000613706.5:c.535_536del	ENSP00000484976.2:p.Ser179IlefsTer2
ENST00000617164.5:c.478_479del	ENSP00000480470.1:p.Ser160IlefsTer2
ENST00000619009.5:c.364+10958_364+10959del	ENSP00000482293.1:n.364+10958_364+10959del
ENST00000650978.1:c.377_378del
ENST00000260947.8:c.535_536del	ENSP00000260947.4:p.Ser179IlefsTer2
ENST00000421162.1:c.215+15722_215+15723del	ENSP00000392245.1:n.215+15722_215+15723del
ENST00000455743.5:c.*155_*156del	ENSP00000412186.1:n.*155_*156del
ENST00000471787.1:n.430_431del
ENST00000613192.1:c.73+28073_73+28074del	ENSP00000483275.1:n.73+28073_73+28074del
ENST00000613374.4:c.158+28073_158+28074del	ENSP00000484464.1:n.158+28073_158+28074del
ENST00000613706.4:c.215+15722_215+15723del	ENSP00000484976.1:n.215+15722_215+15723del
ENST00000617164.4:c.478_479del	ENSP00000480470.1:p.Ser160IlefsTer2
ENST00000619009.4:c.364+10958_364+10959del	ENSP00000482293.1:n.364+10958_364+10959del
ENST00000620057.4:c.364+10958_364+10959del	ENSP00000481988.1:n.364+10958_364+10959del
NM_000465.3:c.535_536del	NP_000456.2:p.Ser179IlefsTer2
NM_001282543.1:c.478_479del	NP_001269472.1:p.Ser160IlefsTer2
NM_001282545.1:c.215+15722_215+15723del	NP_001269474.1:n.215+15722_215+15723del
NM_001282548.1:c.158+28073_158+28074del	NP_001269477.1:n.158+28073_158+28074del
NM_001282549.1:c.364+10958_364+10959del	NP_001269478.1:n.364+10958_364+10959del
NR_104212.1:n.528_529del
NR_104215.1:n.471_472del
NR_104216.1:n.506+10958_506+10959del
XM_011511567.1:c.481_482del	XP_011509869.1:p.Ser161IlefsTer2
XM_011511568.1:c.535_536del	XP_011509870.1:p.Ser179IlefsTer2
XM_017004613.1:c.634_635del	XP_016860102.1:p.Ser212IlefsTer2
XM_017004614.1:c.634_635del	XP_016860103.1:p.Ser212IlefsTer2
XR_002959322.1:n.725_726del
NM_000465.4:c.535_536del MANE Select	NP_000456.2:p.Ser179IlefsTer2
NM_001282543.2:c.478_479del	NP_001269472.1:p.Ser160IlefsTer2
NM_001282545.2:c.215+15722_215+15723del	NP_001269474.1:n.215+15722_215+15723del
NM_001282548.2:c.158+28073_158+28074del	NP_001269477.1:n.158+28073_158+28074del
NM_001282549.2:c.364+10958_364+10959del	NP_001269478.1:n.364+10958_364+10959del
NR_104212.2:n.500_501del
NR_104215.2:n.443_444del
NR_104216.2:n.478+10958_478+10959del