Canonical Allele Identifier: CA2582342118

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583760
• ClinVar RCV Id: RCV003334682

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781021dup , CM000664.2:g.214781021dup	GRCh38
NC_000002.11:g.215645745dup , CM000664.1:g.215645745dup	GRCh37
NC_000002.10:g.215353990dup	NCBI36
NG_012047.2:g.33684dup
NG_012047.3:g.33691dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.853dup MANE Select	ENSP00000260947.4:p.Gln285ProfsTer8
ENST00000421162.2:c.215+16040dup	ENSP00000392245.2:n.215+16040dup
ENST00000613192.2:c.158+28391dup	ENSP00000483275.2:n.158+28391dup
ENST00000613374.5:c.158+28391dup	ENSP00000484464.1:n.158+28391dup
ENST00000613706.5:c.853dup	ENSP00000484976.2:p.Gln285ProfsTer8
ENST00000617164.5:c.796dup	ENSP00000480470.1:p.Gln266ProfsTer8
ENST00000619009.5:c.364+11276dup	ENSP00000482293.1:n.364+11276dup
ENST00000650978.1:c.695dup
ENST00000260947.8:c.853dup	ENSP00000260947.4:p.Gln285ProfsTer8
ENST00000421162.1:c.215+16040dup	ENSP00000392245.1:n.215+16040dup
ENST00000455743.5:c.*473dup	ENSP00000412186.1:n.*473dup
ENST00000471787.1:n.748dup
ENST00000613192.1:c.73+28391dup	ENSP00000483275.1:n.73+28391dup
ENST00000613374.4:c.158+28391dup	ENSP00000484464.1:n.158+28391dup
ENST00000613706.4:c.215+16040dup	ENSP00000484976.1:n.215+16040dup
ENST00000617164.4:c.796dup	ENSP00000480470.1:p.Gln266ProfsTer8
ENST00000619009.4:c.364+11276dup	ENSP00000482293.1:n.364+11276dup
ENST00000620057.4:c.364+11276dup	ENSP00000481988.1:n.364+11276dup
NM_000465.3:c.853dup	NP_000456.2:p.Gln285ProfsTer8
NM_001282543.1:c.796dup	NP_001269472.1:p.Gln266ProfsTer8
NM_001282545.1:c.215+16040dup	NP_001269474.1:n.215+16040dup
NM_001282548.1:c.158+28391dup	NP_001269477.1:n.158+28391dup
NM_001282549.1:c.364+11276dup	NP_001269478.1:n.364+11276dup
NR_104212.1:n.846dup
NR_104215.1:n.789dup
NR_104216.1:n.506+11276dup
XM_011511567.1:c.799dup	XP_011509869.1:p.Gln267ProfsTer8
XM_011511568.1:c.853dup	XP_011509870.1:p.Gln285ProfsTer8
XM_017004613.1:c.952dup	XP_016860102.1:p.Gln318ProfsTer8
XM_017004614.1:c.952dup	XP_016860103.1:p.Gln318ProfsTer8
XR_002959322.1:n.1043dup
NM_000465.4:c.853dup MANE Select	NP_000456.2:p.Gln285ProfsTer8
NM_001282543.2:c.796dup	NP_001269472.1:p.Gln266ProfsTer8
NM_001282545.2:c.215+16040dup	NP_001269474.1:n.215+16040dup
NM_001282548.2:c.158+28391dup	NP_001269477.1:n.158+28391dup
NM_001282549.2:c.364+11276dup	NP_001269478.1:n.364+11276dup
NR_104212.2:n.818dup
NR_104215.2:n.761dup
NR_104216.2:n.478+11276dup