Canonical Allele Identifier: CA16617453

Gene: BARD1

Linked Data

• ClinVar Variation Id: 421646
• ClinVar RCV Id: RCV000483660 ; RCV000527698 ; RCV000775787
• dbSNP Id: rs776103948
• gnomAD v4: 2-214781516-G-GAA
• MyVariant Identifiers: chr2:g.215646241_215646242dupAA (hg19) ; chr2:g.215646240_215646241insAA (hg19) ; chr2:g.214781517_214781518dupAA (hg38) ; chr2:g.214781516_214781517insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781522_214781523dup , CM000664.2:g.214781522_214781523dup	GRCh38
NC_000002.11:g.215646246_215646247dup , CM000664.1:g.215646246_215646247dup	GRCh37
NC_000002.10:g.215354491_215354492dup	NCBI36
NG_012047.2:g.33187_33188dup
NG_012047.3:g.33194_33195dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.365-9_365-8dup MANE Select	ENSP00000260947.4:n.365-9_365-8dup
ENST00000421162.2:c.215+15543_215+15544dup	ENSP00000392245.2:n.215+15543_215+15544dup
ENST00000613192.2:c.158+27894_158+27895dup	ENSP00000483275.2:n.158+27894_158+27895dup
ENST00000613374.5:c.158+27894_158+27895dup	ENSP00000484464.1:n.158+27894_158+27895dup
ENST00000613706.5:c.365-9_365-8dup	ENSP00000484976.2:n.365-9_365-8dup
ENST00000617164.5:c.308-9_308-8dup	ENSP00000480470.1:n.308-9_308-8dup
ENST00000619009.5:c.364+10779_364+10780dup	ENSP00000482293.1:n.364+10779_364+10780dup
ENST00000650978.1:c.207-9_207-8dup
ENST00000260947.8:c.365-9_365-8dup	ENSP00000260947.4:n.365-9_365-8dup
ENST00000421162.1:c.215+15543_215+15544dup	ENSP00000392245.1:n.215+15543_215+15544dup
ENST00000455743.5:c.216-9_216-8dup	ENSP00000412186.1:n.216-9_216-8dup
ENST00000471787.1:n.260-9_260-8dup
ENST00000613192.1:c.73+27894_73+27895dup	ENSP00000483275.1:n.73+27894_73+27895dup
ENST00000613374.4:c.158+27894_158+27895dup	ENSP00000484464.1:n.158+27894_158+27895dup
ENST00000613706.4:c.215+15543_215+15544dup	ENSP00000484976.1:n.215+15543_215+15544dup
ENST00000617164.4:c.308-9_308-8dup	ENSP00000480470.1:n.308-9_308-8dup
ENST00000619009.4:c.364+10779_364+10780dup	ENSP00000482293.1:n.364+10779_364+10780dup
ENST00000620057.4:c.364+10779_364+10780dup	ENSP00000481988.1:n.364+10779_364+10780dup
NM_000465.3:c.365-9_365-8dup	NP_000456.2:n.365-9_365-8dup
NM_001282543.1:c.308-9_308-8dup	NP_001269472.1:n.308-9_308-8dup
NM_001282545.1:c.215+15543_215+15544dup	NP_001269474.1:n.215+15543_215+15544dup
NM_001282548.1:c.158+27894_158+27895dup	NP_001269477.1:n.158+27894_158+27895dup
NM_001282549.1:c.364+10779_364+10780dup	NP_001269478.1:n.364+10779_364+10780dup
NR_104212.1:n.358-9_358-8dup
NR_104215.1:n.301-9_301-8dup
NR_104216.1:n.506+10779_506+10780dup
XM_011511567.1:c.311-9_311-8dup	XP_011509869.1:n.311-9_311-8dup
XM_011511568.1:c.365-9_365-8dup	XP_011509870.1:n.365-9_365-8dup
XM_017004613.1:c.464-9_464-8dup	XP_016860102.1:n.464-9_464-8dup
XM_017004614.1:c.464-9_464-8dup	XP_016860103.1:n.464-9_464-8dup
XR_002959322.1:n.555-9_555-8dup
NM_000465.4:c.365-9_365-8dup MANE Select	NP_000456.2:n.365-9_365-8dup
NM_001282543.2:c.308-9_308-8dup	NP_001269472.1:n.308-9_308-8dup
NM_001282545.2:c.215+15543_215+15544dup	NP_001269474.1:n.215+15543_215+15544dup
NM_001282548.2:c.158+27894_158+27895dup	NP_001269477.1:n.158+27894_158+27895dup
NM_001282549.2:c.364+10779_364+10780dup	NP_001269478.1:n.364+10779_364+10780dup
NR_104212.2:n.330-9_330-8dup
NR_104215.2:n.273-9_273-8dup
NR_104216.2:n.478+10779_478+10780dup