Canonical Allele Identifier: CA1327071498

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1003622
• ClinVar RCV Id: RCV001300196
• dbSNP Id: rs1695026394

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781406_214781414del , CM000664.2:g.214781406_214781414del	GRCh38
NC_000002.11:g.215646130_215646138del , CM000664.1:g.215646130_215646138del	GRCh37
NC_000002.10:g.215354375_215354383del	NCBI36
NG_012047.2:g.33293_33301del
NG_012047.3:g.33300_33308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.462_470del MANE Select	ENSP00000260947.4:p.Arg155_Val157del
ENST00000421162.2:c.215+15649_215+15657del	ENSP00000392245.2:n.215+15649_215+15657del
ENST00000613192.2:c.158+28000_158+28008del	ENSP00000483275.2:n.158+28000_158+28008del
ENST00000613374.5:c.158+28000_158+28008del	ENSP00000484464.1:n.158+28000_158+28008del
ENST00000613706.5:c.462_470del	ENSP00000484976.2:p.Arg155_Val157del
ENST00000617164.5:c.405_413del	ENSP00000480470.1:p.Arg136_Val138del
ENST00000619009.5:c.364+10885_364+10893del	ENSP00000482293.1:n.364+10885_364+10893del
ENST00000650978.1:c.304_312del
ENST00000260947.8:c.462_470del	ENSP00000260947.4:p.Arg155_Val157del
ENST00000421162.1:c.215+15649_215+15657del	ENSP00000392245.1:n.215+15649_215+15657del
ENST00000455743.5:c.*82_*90del	ENSP00000412186.1:n.*82_*90del
ENST00000471787.1:n.357_365del
ENST00000613192.1:c.73+28000_73+28008del	ENSP00000483275.1:n.73+28000_73+28008del
ENST00000613374.4:c.158+28000_158+28008del	ENSP00000484464.1:n.158+28000_158+28008del
ENST00000613706.4:c.215+15649_215+15657del	ENSP00000484976.1:n.215+15649_215+15657del
ENST00000617164.4:c.405_413del	ENSP00000480470.1:p.Arg136_Val138del
ENST00000619009.4:c.364+10885_364+10893del	ENSP00000482293.1:n.364+10885_364+10893del
ENST00000620057.4:c.364+10885_364+10893del	ENSP00000481988.1:n.364+10885_364+10893del
NM_000465.3:c.462_470del	NP_000456.2:p.Arg155_Val157del
NM_001282543.1:c.405_413del	NP_001269472.1:p.Arg136_Val138del
NM_001282545.1:c.215+15649_215+15657del	NP_001269474.1:n.215+15649_215+15657del
NM_001282548.1:c.158+28000_158+28008del	NP_001269477.1:n.158+28000_158+28008del
NM_001282549.1:c.364+10885_364+10893del	NP_001269478.1:n.364+10885_364+10893del
NR_104212.1:n.455_463del
NR_104215.1:n.398_406del
NR_104216.1:n.506+10885_506+10893del
XM_011511567.1:c.408_416del	XP_011509869.1:p.Arg137_Val139del
XM_011511568.1:c.462_470del	XP_011509870.1:p.Arg155_Val157del
XM_017004613.1:c.561_569del	XP_016860102.1:p.Arg188_Val190del
XM_017004614.1:c.561_569del	XP_016860103.1:p.Arg188_Val190del
XR_002959322.1:n.652_660del
NM_000465.4:c.462_470del MANE Select	NP_000456.2:p.Arg155_Val157del
NM_001282543.2:c.405_413del	NP_001269472.1:p.Arg136_Val138del
NM_001282545.2:c.215+15649_215+15657del	NP_001269474.1:n.215+15649_215+15657del
NM_001282548.2:c.158+28000_158+28008del	NP_001269477.1:n.158+28000_158+28008del
NM_001282549.2:c.364+10885_364+10893del	NP_001269478.1:n.364+10885_364+10893del
NR_104212.2:n.427_435del
NR_104215.2:n.370_378del
NR_104216.2:n.478+10885_478+10893del