Canonical Allele Identifier: CA2582342105

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583741
• ClinVar RCV Id: RCV003334663

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780837dup , CM000664.2:g.214780837dup	GRCh38
NC_000002.11:g.215645561dup , CM000664.1:g.215645561dup	GRCh37
NC_000002.10:g.215353806dup	NCBI36
NG_012047.2:g.33868dup
NG_012047.3:g.33875dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1037dup MANE Select	ENSP00000260947.4:p.Asp346GlufsTer4
ENST00000421162.2:c.215+16224dup	ENSP00000392245.2:n.215+16224dup
ENST00000613192.2:c.158+28575dup	ENSP00000483275.2:n.158+28575dup
ENST00000613374.5:c.159-28282dup	ENSP00000484464.1:n.159-28282dup
ENST00000613706.5:c.906+131dup	ENSP00000484976.2:n.906+131dup
ENST00000617164.5:c.980dup	ENSP00000480470.1:p.Asp327GlufsTer4
ENST00000619009.5:c.364+11460dup	ENSP00000482293.1:n.364+11460dup
ENST00000650978.1:c.879dup
ENST00000260947.8:c.1037dup	ENSP00000260947.4:p.Asp346GlufsTer4
ENST00000421162.1:c.215+16224dup	ENSP00000392245.1:n.215+16224dup
ENST00000455743.5:c.*657dup	ENSP00000412186.1:n.*657dup
ENST00000613192.1:c.73+28575dup	ENSP00000483275.1:n.73+28575dup
ENST00000613374.4:c.159-28282dup	ENSP00000484464.1:n.159-28282dup
ENST00000613706.4:c.215+16224dup	ENSP00000484976.1:n.215+16224dup
ENST00000617164.4:c.980dup	ENSP00000480470.1:p.Asp327GlufsTer4
ENST00000619009.4:c.364+11460dup	ENSP00000482293.1:n.364+11460dup
ENST00000620057.4:c.364+11460dup	ENSP00000481988.1:n.364+11460dup
NM_000465.3:c.1037dup	NP_000456.2:p.Asp346GlufsTer4
NM_001282543.1:c.980dup	NP_001269472.1:p.Asp327GlufsTer4
NM_001282545.1:c.215+16224dup	NP_001269474.1:n.215+16224dup
NM_001282548.1:c.159-28282dup	NP_001269477.1:n.159-28282dup
NM_001282549.1:c.364+11460dup	NP_001269478.1:n.364+11460dup
NR_104212.1:n.1030dup
NR_104215.1:n.973dup
NR_104216.1:n.506+11460dup
XM_011511567.1:c.983dup	XP_011509869.1:p.Asp328GlufsTer4
XM_011511568.1:c.1037dup	XP_011509870.1:p.Asp346GlufsTer4
XM_017004613.1:c.1136dup	XP_016860102.1:p.Asp379GlufsTer4
XM_017004614.1:c.1136dup	XP_016860103.1:p.Asp379GlufsTer4
XR_002959322.1:n.1227dup
NM_000465.4:c.1037dup MANE Select	NP_000456.2:p.Asp346GlufsTer4
NM_001282543.2:c.980dup	NP_001269472.1:p.Asp327GlufsTer4
NM_001282545.2:c.215+16224dup	NP_001269474.1:n.215+16224dup
NM_001282548.2:c.159-28282dup	NP_001269477.1:n.159-28282dup
NM_001282549.2:c.364+11460dup	NP_001269478.1:n.364+11460dup
NR_104212.2:n.1002dup
NR_104215.2:n.945dup
NR_104216.2:n.478+11460dup