Canonical Allele Identifier: CA2662971091

Gene: BARD1

Linked Data

• gnomAD v4: 2-214730482-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730486dup , CM000664.2:g.214730486dup	GRCh38
NC_000002.11:g.215595210dup , CM000664.1:g.215595210dup	GRCh37
NC_000002.10:g.215303455dup	NCBI36
NG_012047.2:g.84222dup
NG_012047.3:g.84229dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1929dup MANE Select	ENSP00000260947.4:p.Val644SerfsTer3
ENST00000421162.2:c.576dup	ENSP00000392245.2:p.Val193SerfsTer3
ENST00000613192.2:c.184dup	ENSP00000483275.2:p.Ser62LysfsTer?
ENST00000613374.5:c.519dup	ENSP00000484464.1:p.Val174SerfsTer3
ENST00000613706.5:c.1521dup	ENSP00000484976.2:p.Val508SerfsTer3
ENST00000617164.5:c.1872dup	ENSP00000480470.1:p.Val625SerfsTer3
ENST00000619009.5:c.390dup	ENSP00000482293.1:p.Val131SerfsTer3
ENST00000650978.1:c.3304dup
ENST00000260947.8:c.1929dup	ENSP00000260947.4:p.Val644SerfsTer3
ENST00000421162.1:c.576dup	ENSP00000392245.1:p.Val193SerfsTer3
ENST00000432456.5:c.26dup
ENST00000455743.5:c.*1549dup	ENSP00000412186.1:n.*1549dup
ENST00000471590.5:n.264dup
ENST00000613192.1:c.99dup	ENSP00000483275.1:p.Val34SerfsTer3
ENST00000613374.4:c.519dup	ENSP00000484464.1:p.Val174SerfsTer3
ENST00000613706.4:c.576dup	ENSP00000484976.1:p.Val193SerfsTer3
ENST00000617164.4:c.1872dup	ENSP00000480470.1:p.Val625SerfsTer3
ENST00000619009.4:c.390dup	ENSP00000482293.1:p.Val131SerfsTer3
ENST00000620057.4:c.*595dup	ENSP00000481988.1:n.*595dup
NM_000465.3:c.1929dup	NP_000456.2:p.Val644SerfsTer3
NM_001282543.1:c.1872dup	NP_001269472.1:p.Val625SerfsTer3
NM_001282545.1:c.576dup	NP_001269474.1:p.Val193SerfsTer3
NM_001282548.1:c.519dup	NP_001269477.1:p.Val174SerfsTer3
NM_001282549.1:c.390dup	NP_001269478.1:p.Val131SerfsTer3
NR_104212.1:n.1922dup
NR_104215.1:n.1865dup
NR_104216.1:n.1121dup
XM_011511567.1:c.1875dup	XP_011509869.1:p.Val626SerfsTer3
XM_017004613.1:c.2028dup	XP_016860102.1:p.Val677SerfsTer3
XR_002959322.1:n.2119dup
NM_000465.4:c.1929dup MANE Select	NP_000456.2:p.Val644SerfsTer3
NM_001282543.2:c.1872dup	NP_001269472.1:p.Val625SerfsTer3
NM_001282545.2:c.576dup	NP_001269474.1:p.Val193SerfsTer3
NM_001282548.2:c.519dup	NP_001269477.1:p.Val174SerfsTer3
NM_001282549.2:c.390dup	NP_001269478.1:p.Val131SerfsTer3
NR_104212.2:n.1894dup
NR_104215.2:n.1837dup
NR_104216.2:n.1093dup