Canonical Allele Identifier: CA2580065627

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1728915
• ClinVar RCV Id: RCV002324579

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780739_214780741delinsGG , CM000664.2:g.214780739_214780741delinsGG	GRCh38
NC_000002.11:g.215645463_215645465delinsGG , CM000664.1:g.215645463_215645465delinsGG	GRCh37
NC_000002.10:g.215353708_215353710delinsGG	NCBI36
NG_012047.2:g.33964_33966delinsCC
NG_012047.3:g.33971_33973delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1133_1135delinsCC MANE Select	ENSP00000260947.4:p.Arg378ThrfsTer22
ENST00000421162.2:c.215+16320_215+16322delinsCC	ENSP00000392245.2:n.215+16320_215+16322de...
ENST00000613192.2:c.158+28671_158+28673delinsCC	ENSP00000483275.2:n.158+28671_158+28673de...
ENST00000613374.5:c.159-28186_159-28184delinsCC	ENSP00000484464.1:n.159-28186_159-28184de...
ENST00000613706.5:c.906+227_906+229delinsCC	ENSP00000484976.2:n.906+227_906+229delins...
ENST00000617164.5:c.1076_1078delinsCC	ENSP00000480470.1:p.Arg359ThrfsTer22
ENST00000619009.5:c.364+11556_364+11558delinsCC	ENSP00000482293.1:n.364+11556_364+11558de...
ENST00000650978.1:c.975_977delinsCC
ENST00000260947.8:c.1133_1135delinsCC	ENSP00000260947.4:p.Arg378ThrfsTer22
ENST00000421162.1:c.215+16320_215+16322delinsCC	ENSP00000392245.1:n.215+16320_215+16322de...
ENST00000455743.5:c.*753_*755delinsCC	ENSP00000412186.1:n.*753_*755delinsCC
ENST00000613192.1:c.73+28671_73+28673delinsCC	ENSP00000483275.1:n.73+28671_73+28673deli...
ENST00000613374.4:c.159-28186_159-28184delinsCC	ENSP00000484464.1:n.159-28186_159-28184de...
ENST00000613706.4:c.215+16320_215+16322delinsCC	ENSP00000484976.1:n.215+16320_215+16322de...
ENST00000617164.4:c.1076_1078delinsCC	ENSP00000480470.1:p.Arg359ThrfsTer22
ENST00000619009.4:c.364+11556_364+11558delinsCC	ENSP00000482293.1:n.364+11556_364+11558de...
ENST00000620057.4:c.365-11429_365-11427delinsCC	ENSP00000481988.1:n.365-11429_365-11427de...
NM_000465.3:c.1133_1135delinsCC	NP_000456.2:p.Arg378ThrfsTer22
NM_001282543.1:c.1076_1078delinsCC	NP_001269472.1:p.Arg359ThrfsTer22
NM_001282545.1:c.215+16320_215+16322delinsCC	NP_001269474.1:n.215+16320_215+16322delin...
NM_001282548.1:c.159-28186_159-28184delinsCC	NP_001269477.1:n.159-28186_159-28184delin...
NM_001282549.1:c.364+11556_364+11558delinsCC	NP_001269478.1:n.364+11556_364+11558delin...
NR_104212.1:n.1126_1128delinsCC
NR_104215.1:n.1069_1071delinsCC
NR_104216.1:n.507-11429_507-11427delinsCC
XM_011511567.1:c.1079_1081delinsCC	XP_011509869.1:p.Arg360ThrfsTer22
XM_011511568.1:c.1133_1135delinsCC	XP_011509870.1:p.Arg378ThrfsTer22
XM_017004613.1:c.1232_1234delinsCC	XP_016860102.1:p.Arg411ThrfsTer22
XM_017004614.1:c.1232_1234delinsCC	XP_016860103.1:p.Arg411ThrfsTer22
XR_002959322.1:n.1323_1325delinsCC
NM_000465.4:c.1133_1135delinsCC MANE Select	NP_000456.2:p.Arg378ThrfsTer22
NM_001282543.2:c.1076_1078delinsCC	NP_001269472.1:p.Arg359ThrfsTer22
NM_001282545.2:c.215+16320_215+16322delinsCC	NP_001269474.1:n.215+16320_215+16322delin...
NM_001282548.2:c.159-28186_159-28184delinsCC	NP_001269477.1:n.159-28186_159-28184delin...
NM_001282549.2:c.364+11556_364+11558delinsCC	NP_001269478.1:n.364+11556_364+11558delin...
NR_104212.2:n.1098_1100delinsCC
NR_104215.2:n.1041_1043delinsCC
NR_104216.2:n.479-11429_479-11427delinsCC