Canonical Allele Identifier: CA915941707

Gene: BARD1

Linked Data

• ClinVar Variation Id: 640797
• ClinVar RCV Id: RCV000793898
• dbSNP Id: rs1574703115

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728866dup , CM000664.2:g.214728866dup	GRCh38
NC_000002.11:g.215593590dup , CM000664.1:g.215593590dup	GRCh37
NC_000002.10:g.215301835dup	NCBI36
NG_012047.2:g.85839dup
NG_012047.3:g.85846dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2144dup MANE Select	ENSP00000260947.4:p.Thr716AspfsTer14
ENST00000421162.2:c.791dup	ENSP00000392245.2:p.Thr265AspfsTer14
ENST00000613192.2:c.*207dup	ENSP00000483275.2:n.*207dup
ENST00000613374.5:c.734dup	ENSP00000484464.1:p.Thr246AspfsTer14
ENST00000613706.5:c.1736dup	ENSP00000484976.2:p.Thr580AspfsTer14
ENST00000617164.5:c.2087dup	ENSP00000480470.1:p.Thr697AspfsTer14
ENST00000619009.5:c.605dup	ENSP00000482293.1:p.Thr203AspfsTer14
ENST00000650978.1:c.3519dup
ENST00000260947.8:c.2144dup	ENSP00000260947.4:p.Thr716AspfsTer14
ENST00000432456.5:c.287dup
ENST00000455743.5:c.*1764dup	ENSP00000412186.1:n.*1764dup
ENST00000471590.5:n.479dup
ENST00000613192.1:c.314dup	ENSP00000483275.1:p.Thr106AspfsTer14
ENST00000613374.4:c.734dup	ENSP00000484464.1:p.Thr246AspfsTer14
ENST00000613706.4:c.791dup	ENSP00000484976.1:p.Thr265AspfsTer14
ENST00000617164.4:c.2087dup	ENSP00000480470.1:p.Thr697AspfsTer14
ENST00000619009.4:c.605dup	ENSP00000482293.1:p.Thr203AspfsTer14
ENST00000620057.4:c.*810dup	ENSP00000481988.1:n.*810dup
NM_000465.3:c.2144dup	NP_000456.2:p.Thr716AspfsTer14
NM_001282543.1:c.2087dup	NP_001269472.1:p.Thr697AspfsTer14
NM_001282545.1:c.791dup	NP_001269474.1:p.Thr265AspfsTer14
NM_001282548.1:c.734dup	NP_001269477.1:p.Thr246AspfsTer14
NM_001282549.1:c.605dup	NP_001269478.1:p.Thr203AspfsTer14
NR_104212.1:n.2137dup
NR_104215.1:n.2080dup
NR_104216.1:n.1336dup
XM_011511567.1:c.2090dup	XP_011509869.1:p.Thr698AspfsTer14
XM_017004613.1:c.2243dup	XP_016860102.1:p.Thr749AspfsTer14
XR_002959322.1:n.2510dup
NM_000465.4:c.2144dup MANE Select	NP_000456.2:p.Thr716AspfsTer14
NM_001282543.2:c.2087dup	NP_001269472.1:p.Thr697AspfsTer14
NM_001282545.2:c.791dup	NP_001269474.1:p.Thr265AspfsTer14
NM_001282548.2:c.734dup	NP_001269477.1:p.Thr246AspfsTer14
NM_001282549.2:c.605dup	NP_001269478.1:p.Thr203AspfsTer14
NR_104212.2:n.2109dup
NR_104215.2:n.2052dup
NR_104216.2:n.1308dup