Canonical Allele Identifier: CA2580065674

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2450469
• ClinVar RCV Id: RCV003171424 ; RCV003336827

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781052dup , CM000664.2:g.214781052dup	GRCh38
NC_000002.11:g.215645776dup , CM000664.1:g.215645776dup	GRCh37
NC_000002.10:g.215354021dup	NCBI36
NG_012047.2:g.33655dup
NG_012047.3:g.33662dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.824dup MANE Select	ENSP00000260947.4:p.Leu275PhefsTer3
ENST00000421162.2:c.215+16011dup	ENSP00000392245.2:n.215+16011dup
ENST00000613192.2:c.158+28362dup	ENSP00000483275.2:n.158+28362dup
ENST00000613374.5:c.158+28362dup	ENSP00000484464.1:n.158+28362dup
ENST00000613706.5:c.824dup	ENSP00000484976.2:p.Leu275PhefsTer3
ENST00000617164.5:c.767dup	ENSP00000480470.1:p.Leu256PhefsTer3
ENST00000619009.5:c.364+11247dup	ENSP00000482293.1:n.364+11247dup
ENST00000650978.1:c.666dup
ENST00000260947.8:c.824dup	ENSP00000260947.4:p.Leu275PhefsTer3
ENST00000421162.1:c.215+16011dup	ENSP00000392245.1:n.215+16011dup
ENST00000455743.5:c.*444dup	ENSP00000412186.1:n.*444dup
ENST00000471787.1:n.719dup
ENST00000613192.1:c.73+28362dup	ENSP00000483275.1:n.73+28362dup
ENST00000613374.4:c.158+28362dup	ENSP00000484464.1:n.158+28362dup
ENST00000613706.4:c.215+16011dup	ENSP00000484976.1:n.215+16011dup
ENST00000617164.4:c.767dup	ENSP00000480470.1:p.Leu256PhefsTer3
ENST00000619009.4:c.364+11247dup	ENSP00000482293.1:n.364+11247dup
ENST00000620057.4:c.364+11247dup	ENSP00000481988.1:n.364+11247dup
NM_000465.3:c.824dup	NP_000456.2:p.Leu275PhefsTer3
NM_001282543.1:c.767dup	NP_001269472.1:p.Leu256PhefsTer3
NM_001282545.1:c.215+16011dup	NP_001269474.1:n.215+16011dup
NM_001282548.1:c.158+28362dup	NP_001269477.1:n.158+28362dup
NM_001282549.1:c.364+11247dup	NP_001269478.1:n.364+11247dup
NR_104212.1:n.817dup
NR_104215.1:n.760dup
NR_104216.1:n.506+11247dup
XM_011511567.1:c.770dup	XP_011509869.1:p.Leu257PhefsTer3
XM_011511568.1:c.824dup	XP_011509870.1:p.Leu275PhefsTer3
XM_017004613.1:c.923dup	XP_016860102.1:p.Leu308PhefsTer3
XM_017004614.1:c.923dup	XP_016860103.1:p.Leu308PhefsTer3
XR_002959322.1:n.1014dup
NM_000465.4:c.824dup MANE Select	NP_000456.2:p.Leu275PhefsTer3
NM_001282543.2:c.767dup	NP_001269472.1:p.Leu256PhefsTer3
NM_001282545.2:c.215+16011dup	NP_001269474.1:n.215+16011dup
NM_001282548.2:c.158+28362dup	NP_001269477.1:n.158+28362dup
NM_001282549.2:c.364+11247dup	NP_001269478.1:n.364+11247dup
NR_104212.2:n.789dup
NR_104215.2:n.732dup
NR_104216.2:n.478+11247dup