Canonical Allele Identifier: CA2580065613

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2091708
• ClinVar RCV Id: RCV002991676
• gnomAD v4: 2-214745766-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745767dup , CM000664.2:g.214745767dup	GRCh38
NC_000002.11:g.215610491dup , CM000664.1:g.215610491dup	GRCh37
NC_000002.10:g.215318736dup	NCBI36
NG_012047.2:g.68938dup
NG_012047.3:g.68945dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1765dup MANE Select	ENSP00000260947.4:p.Ala589GlyfsTer5
ENST00000421162.2:c.412dup	ENSP00000392245.2:p.Ala138GlyfsTer5
ENST00000613192.2:c.159-15259dup	ENSP00000483275.2:n.159-15259dup
ENST00000613374.5:c.355dup	ENSP00000484464.1:p.Ala119GlyfsTer5
ENST00000613706.5:c.1357dup	ENSP00000484976.2:p.Ala453GlyfsTer5
ENST00000617164.5:c.1708dup	ENSP00000480470.1:p.Ala570GlyfsTer5
ENST00000619009.5:c.365-15259dup	ENSP00000482293.1:n.365-15259dup
ENST00000650978.1:c.3140dup
ENST00000260947.8:c.1765dup	ENSP00000260947.4:p.Ala589GlyfsTer5
ENST00000421162.1:c.412dup	ENSP00000392245.1:p.Ala138GlyfsTer5
ENST00000455743.5:c.*1385dup	ENSP00000412186.1:n.*1385dup
ENST00000465841.1:n.120dup
ENST00000613192.1:c.74-15259dup	ENSP00000483275.1:n.74-15259dup
ENST00000613374.4:c.355dup	ENSP00000484464.1:p.Ala119GlyfsTer5
ENST00000613706.4:c.412dup	ENSP00000484976.1:p.Ala138GlyfsTer5
ENST00000617164.4:c.1708dup	ENSP00000480470.1:p.Ala570GlyfsTer5
ENST00000619009.4:c.365-15259dup	ENSP00000482293.1:n.365-15259dup
ENST00000620057.4:c.*431dup	ENSP00000481988.1:n.*431dup
NM_000465.3:c.1765dup	NP_000456.2:p.Ala589GlyfsTer5
NM_001282543.1:c.1708dup	NP_001269472.1:p.Ala570GlyfsTer5
NM_001282545.1:c.412dup	NP_001269474.1:p.Ala138GlyfsTer5
NM_001282548.1:c.355dup	NP_001269477.1:p.Ala119GlyfsTer5
NM_001282549.1:c.365-15259dup	NP_001269478.1:n.365-15259dup
NR_104212.1:n.1758dup
NR_104215.1:n.1701dup
NR_104216.1:n.957dup
XM_011511567.1:c.1711dup	XP_011509869.1:p.Ala571GlyfsTer5
XM_011511568.1:c.1765dup	XP_011509870.1:p.Ala589GlyfsTer5
XM_017004613.1:c.1864dup	XP_016860102.1:p.Ala622GlyfsTer5
XM_017004614.1:c.1864dup	XP_016860103.1:p.Ala622GlyfsTer5
XR_002959322.1:n.1955dup
NM_000465.4:c.1765dup MANE Select	NP_000456.2:p.Ala589GlyfsTer5
NM_001282543.2:c.1708dup	NP_001269472.1:p.Ala570GlyfsTer5
NM_001282545.2:c.412dup	NP_001269474.1:p.Ala138GlyfsTer5
NM_001282548.2:c.355dup	NP_001269477.1:p.Ala119GlyfsTer5
NM_001282549.2:c.365-15259dup	NP_001269478.1:n.365-15259dup
NR_104212.2:n.1730dup
NR_104215.2:n.1673dup
NR_104216.2:n.929dup