Canonical Allele Identifier: CA913188009

Gene: BARD1

Linked Data

• ClinVar Variation Id: 925628
• ClinVar RCV Id: RCV001187707
• dbSNP Id: rs1692211273

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728836_214728838delinsTTG , CM000664.2:g.214728836_214728838delinsTTG	GRCh38
NC_000002.11:g.215593560_215593562delinsTTG , CM000664.1:g.215593560_215593562delinsTTG	GRCh37
NC_000002.10:g.215301805_215301807delinsTTG	NCBI36
NG_012047.2:g.85867_85869delinsCAA
NG_012047.3:g.85874_85876delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2172_2174delinsCAA MANE Select	ENSP00000260947.4:p.Arg725Lys
ENST00000421162.2:c.819_821delinsCAA	ENSP00000392245.2:p.Arg274Lys
ENST00000613192.2:c.*235_*237delinsCAA	ENSP00000483275.2:n.*235_*237delinsCAA
ENST00000613374.5:c.762_764delinsCAA	ENSP00000484464.1:p.Arg255Lys
ENST00000613706.5:c.1764_1766delinsCAA	ENSP00000484976.2:p.Arg589Lys
ENST00000617164.5:c.2115_2117delinsCAA	ENSP00000480470.1:p.Arg706Lys
ENST00000619009.5:c.633_635delinsCAA	ENSP00000482293.1:p.Arg212Lys
ENST00000650978.1:c.3547_3549delinsCAA
ENST00000260947.8:c.2172_2174delinsCAA	ENSP00000260947.4:p.Arg725Lys
ENST00000432456.5:c.315_317delinsCAA
ENST00000455743.5:c.*1792_*1794delinsCAA	ENSP00000412186.1:n.*1792_*1794delinsCAA
ENST00000471590.5:n.507_509delinsCAA
ENST00000613192.1:c.342_344delinsCAA	ENSP00000483275.1:p.Arg115Lys
ENST00000613374.4:c.762_764delinsCAA	ENSP00000484464.1:p.Arg255Lys
ENST00000613706.4:c.819_821delinsCAA	ENSP00000484976.1:p.Arg274Lys
ENST00000617164.4:c.2115_2117delinsCAA	ENSP00000480470.1:p.Arg706Lys
ENST00000619009.4:c.633_635delinsCAA	ENSP00000482293.1:p.Arg212Lys
ENST00000620057.4:c.*838_*840delinsCAA	ENSP00000481988.1:n.*838_*840delinsCAA
NM_000465.3:c.2172_2174delinsCAA	NP_000456.2:p.Arg725Lys
NM_001282543.1:c.2115_2117delinsCAA	NP_001269472.1:p.Arg706Lys
NM_001282545.1:c.819_821delinsCAA	NP_001269474.1:p.Arg274Lys
NM_001282548.1:c.762_764delinsCAA	NP_001269477.1:p.Arg255Lys
NM_001282549.1:c.633_635delinsCAA	NP_001269478.1:p.Arg212Lys
NR_104212.1:n.2165_2167delinsCAA
NR_104215.1:n.2108_2110delinsCAA
NR_104216.1:n.1364_1366delinsCAA
XM_011511567.1:c.2118_2120delinsCAA	XP_011509869.1:p.Arg707Lys
XM_017004613.1:c.2271_2273delinsCAA	XP_016860102.1:p.Arg758Lys
XR_002959322.1:n.2538_2540delinsCAA
NM_000465.4:c.2172_2174delinsCAA MANE Select	NP_000456.2:p.Arg725Lys
NM_001282543.2:c.2115_2117delinsCAA	NP_001269472.1:p.Arg706Lys
NM_001282545.2:c.819_821delinsCAA	NP_001269474.1:p.Arg274Lys
NM_001282548.2:c.762_764delinsCAA	NP_001269477.1:p.Arg255Lys
NM_001282549.2:c.633_635delinsCAA	NP_001269478.1:p.Arg212Lys
NR_104212.2:n.2137_2139delinsCAA
NR_104215.2:n.2080_2082delinsCAA
NR_104216.2:n.1336_1338delinsCAA