Canonical Allele Identifier: CA333230

Gene: BARD1

Linked Data

• ClinVar Variation Id: 141836
• ClinVar RCV Id: RCV000130512 ; RCV000204402 ; RCV000679343 ; RCV000780945
• dbSNP Id: rs587782046
• gnomAD v3: 2-214728684-CAA-C
• gnomAD v4: 2-214728684-CAA-C
• MyVariant Identifiers: chr2:g.215593409_215593410del (hg19) ; chr2:g.214728685_214728686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728685_214728686del , CM000664.2:g.214728685_214728686del	GRCh38
NC_000002.11:g.215593409_215593410del , CM000664.1:g.215593409_215593410del	GRCh37
NC_000002.10:g.215301654_215301655del	NCBI36
NG_012047.2:g.86019_86020del
NG_012047.3:g.86026_86027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2324_2325del MANE Select	ENSP00000260947.4:p.Leu775ArgfsTer19
ENST00000421162.2:c.971_972del	ENSP00000392245.2:p.Leu324ArgfsTer?
ENST00000613192.2:c.*387_*388del	ENSP00000483275.2:n.*387_*388del
ENST00000613374.5:c.914_915del	ENSP00000484464.1:p.Leu305ArgfsTer19
ENST00000613706.5:c.1916_1917del	ENSP00000484976.2:p.Leu639ArgfsTer19
ENST00000617164.5:c.2267_2268del	ENSP00000480470.1:p.Leu756ArgfsTer19
ENST00000619009.5:c.785_786del	ENSP00000482293.1:p.Leu262ArgfsTer19
ENST00000650978.1:c.3699_3700del
ENST00000260947.8:c.2324_2325del	ENSP00000260947.4:p.Leu775ArgfsTer19
ENST00000432456.5:c.467_468del
ENST00000471590.5:n.659_660del
ENST00000613192.1:c.494_495del	ENSP00000483275.1:p.Leu165ArgfsTer?
ENST00000613374.4:c.914_915del	ENSP00000484464.1:p.Leu305ArgfsTer19
ENST00000613706.4:c.971_972del	ENSP00000484976.1:p.Leu324ArgfsTer19
ENST00000617164.4:c.2267_2268del	ENSP00000480470.1:p.Leu756ArgfsTer19
ENST00000619009.4:c.785_786del	ENSP00000482293.1:p.Leu262ArgfsTer19
ENST00000620057.4:c.*990_*991del	ENSP00000481988.1:n.*990_*991del
NM_000465.3:c.2324_2325del	NP_000456.2:p.Leu775ArgfsTer19
NM_001282543.1:c.2267_2268del	NP_001269472.1:p.Leu756ArgfsTer19
NM_001282545.1:c.971_972del	NP_001269474.1:p.Leu324ArgfsTer19
NM_001282548.1:c.914_915del	NP_001269477.1:p.Leu305ArgfsTer19
NM_001282549.1:c.785_786del	NP_001269478.1:p.Leu262ArgfsTer19
NR_104212.1:n.2317_2318del
NR_104215.1:n.2260_2261del
NR_104216.1:n.1516_1517del
XM_011511567.1:c.2270_2271del	XP_011509869.1:p.Leu757ArgfsTer19
XM_017004613.1:c.2423_2424del	XP_016860102.1:p.Leu808ArgfsTer19
XR_002959322.1:n.2690_2691del
NM_000465.4:c.2324_2325del MANE Select	NP_000456.2:p.Leu775ArgfsTer19
NM_001282543.2:c.2267_2268del	NP_001269472.1:p.Leu756ArgfsTer19
NM_001282545.2:c.971_972del	NP_001269474.1:p.Leu324ArgfsTer19
NM_001282548.2:c.914_915del	NP_001269477.1:p.Leu305ArgfsTer19
NM_001282549.2:c.785_786del	NP_001269478.1:p.Leu262ArgfsTer19
NR_104212.2:n.2289_2290del
NR_104215.2:n.2232_2233del
NR_104216.2:n.1488_1489del