Canonical Allele Identifier: CA64792649

Gene: BARD1

Linked Data

• dbSNP Id: rs869187168

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728761del , CM000664.2:g.214728761del	GRCh38
NC_000002.11:g.215593485del , CM000664.1:g.215593485del	GRCh37
NC_000002.10:g.215301730del	NCBI36
NG_012047.2:g.85945del
NG_012047.3:g.85952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2250del MANE Select	ENSP00000260947.4:p.Arg751GlyfsTer14
ENST00000421162.2:c.897del	ENSP00000392245.2:p.Arg300GlyfsTer14
ENST00000613192.2:c.*313del	ENSP00000483275.2:n.*313del
ENST00000613374.5:c.840del	ENSP00000484464.1:p.Arg281GlyfsTer14
ENST00000613706.5:c.1842del	ENSP00000484976.2:p.Arg615GlyfsTer14
ENST00000617164.5:c.2193del	ENSP00000480470.1:p.Arg732GlyfsTer14
ENST00000619009.5:c.711del	ENSP00000482293.1:p.Arg238GlyfsTer14
ENST00000650978.1:c.3625del
ENST00000260947.8:c.2250del	ENSP00000260947.4:p.Arg751GlyfsTer14
ENST00000432456.5:c.393del
ENST00000455743.5:c.*1870del	ENSP00000412186.1:n.*1870del
ENST00000471590.5:n.585del
ENST00000613192.1:c.420del	ENSP00000483275.1:p.Arg141GlyfsTer14
ENST00000613374.4:c.840del	ENSP00000484464.1:p.Arg281GlyfsTer14
ENST00000613706.4:c.897del	ENSP00000484976.1:p.Arg300GlyfsTer14
ENST00000617164.4:c.2193del	ENSP00000480470.1:p.Arg732GlyfsTer14
ENST00000619009.4:c.711del	ENSP00000482293.1:p.Arg238GlyfsTer14
ENST00000620057.4:c.*916del	ENSP00000481988.1:n.*916del
NM_000465.3:c.2250del	NP_000456.2:p.Arg751GlyfsTer14
NM_001282543.1:c.2193del	NP_001269472.1:p.Arg732GlyfsTer14
NM_001282545.1:c.897del	NP_001269474.1:p.Arg300GlyfsTer14
NM_001282548.1:c.840del	NP_001269477.1:p.Arg281GlyfsTer14
NM_001282549.1:c.711del	NP_001269478.1:p.Arg238GlyfsTer14
NR_104212.1:n.2243del
NR_104215.1:n.2186del
NR_104216.1:n.1442del
XM_011511567.1:c.2196del	XP_011509869.1:p.Arg733GlyfsTer14
XM_017004613.1:c.2349del	XP_016860102.1:p.Arg784GlyfsTer14
XR_002959322.1:n.2616del
NM_000465.4:c.2250del MANE Select	NP_000456.2:p.Arg751GlyfsTer14
NM_001282543.2:c.2193del	NP_001269472.1:p.Arg732GlyfsTer14
NM_001282545.2:c.897del	NP_001269474.1:p.Arg300GlyfsTer14
NM_001282548.2:c.840del	NP_001269477.1:p.Arg281GlyfsTer14
NM_001282549.2:c.711del	NP_001269478.1:p.Arg238GlyfsTer14
NR_104212.2:n.2215del
NR_104215.2:n.2158del
NR_104216.2:n.1414del