Canonical Allele Identifier: CA2582342091

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583770
• ClinVar RCV Id: RCV003334692

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781138dup , CM000664.2:g.214781138dup	GRCh38
NC_000002.11:g.215645862dup , CM000664.1:g.215645862dup	GRCh37
NC_000002.10:g.215354107dup	NCBI36
NG_012047.2:g.33568dup
NG_012047.3:g.33575dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.737dup MANE Select	ENSP00000260947.4:p.Ser247IlefsTer11
ENST00000421162.2:c.215+15924dup	ENSP00000392245.2:n.215+15924dup
ENST00000613192.2:c.158+28275dup	ENSP00000483275.2:n.158+28275dup
ENST00000613374.5:c.158+28275dup	ENSP00000484464.1:n.158+28275dup
ENST00000613706.5:c.737dup	ENSP00000484976.2:p.Ser247IlefsTer11
ENST00000617164.5:c.680dup	ENSP00000480470.1:p.Ser228IlefsTer11
ENST00000619009.5:c.364+11160dup	ENSP00000482293.1:n.364+11160dup
ENST00000650978.1:c.579dup
ENST00000260947.8:c.737dup	ENSP00000260947.4:p.Ser247IlefsTer11
ENST00000421162.1:c.215+15924dup	ENSP00000392245.1:n.215+15924dup
ENST00000455743.5:c.*357dup	ENSP00000412186.1:n.*357dup
ENST00000471787.1:n.632dup
ENST00000613192.1:c.73+28275dup	ENSP00000483275.1:n.73+28275dup
ENST00000613374.4:c.158+28275dup	ENSP00000484464.1:n.158+28275dup
ENST00000613706.4:c.215+15924dup	ENSP00000484976.1:n.215+15924dup
ENST00000617164.4:c.680dup	ENSP00000480470.1:p.Ser228IlefsTer11
ENST00000619009.4:c.364+11160dup	ENSP00000482293.1:n.364+11160dup
ENST00000620057.4:c.364+11160dup	ENSP00000481988.1:n.364+11160dup
NM_000465.3:c.737dup	NP_000456.2:p.Ser247IlefsTer11
NM_001282543.1:c.680dup	NP_001269472.1:p.Ser228IlefsTer11
NM_001282545.1:c.215+15924dup	NP_001269474.1:n.215+15924dup
NM_001282548.1:c.158+28275dup	NP_001269477.1:n.158+28275dup
NM_001282549.1:c.364+11160dup	NP_001269478.1:n.364+11160dup
NR_104212.1:n.730dup
NR_104215.1:n.673dup
NR_104216.1:n.506+11160dup
XM_011511567.1:c.683dup	XP_011509869.1:p.Ser229IlefsTer11
XM_011511568.1:c.737dup	XP_011509870.1:p.Ser247IlefsTer11
XM_017004613.1:c.836dup	XP_016860102.1:p.Ser280IlefsTer11
XM_017004614.1:c.836dup	XP_016860103.1:p.Ser280IlefsTer11
XR_002959322.1:n.927dup
NM_000465.4:c.737dup MANE Select	NP_000456.2:p.Ser247IlefsTer11
NM_001282543.2:c.680dup	NP_001269472.1:p.Ser228IlefsTer11
NM_001282545.2:c.215+15924dup	NP_001269474.1:n.215+15924dup
NM_001282548.2:c.158+28275dup	NP_001269477.1:n.158+28275dup
NM_001282549.2:c.364+11160dup	NP_001269478.1:n.364+11160dup
NR_104212.2:n.702dup
NR_104215.2:n.645dup
NR_104216.2:n.478+11160dup