Canonical Allele Identifier: CA2697550341

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2703399
• ClinVar RCV Id: RCV003501137

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781236dup , CM000664.2:g.214781236dup	GRCh38
NC_000002.11:g.215645960dup , CM000664.1:g.215645960dup	GRCh37
NC_000002.10:g.215354205dup	NCBI36
NG_012047.2:g.33471dup
NG_012047.3:g.33478dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.640dup MANE Select	ENSP00000260947.4:p.Ile214AsnfsTer15
ENST00000421162.2:c.215+15827dup	ENSP00000392245.2:n.215+15827dup
ENST00000613192.2:c.158+28178dup	ENSP00000483275.2:n.158+28178dup
ENST00000613374.5:c.158+28178dup	ENSP00000484464.1:n.158+28178dup
ENST00000613706.5:c.640dup	ENSP00000484976.2:p.Ile214AsnfsTer15
ENST00000617164.5:c.583dup	ENSP00000480470.1:p.Ile195AsnfsTer15
ENST00000619009.5:c.364+11063dup	ENSP00000482293.1:n.364+11063dup
ENST00000650978.1:c.482dup
ENST00000260947.8:c.640dup	ENSP00000260947.4:p.Ile214AsnfsTer15
ENST00000421162.1:c.215+15827dup	ENSP00000392245.1:n.215+15827dup
ENST00000455743.5:c.*260dup	ENSP00000412186.1:n.*260dup
ENST00000471787.1:n.535dup
ENST00000613192.1:c.73+28178dup	ENSP00000483275.1:n.73+28178dup
ENST00000613374.4:c.158+28178dup	ENSP00000484464.1:n.158+28178dup
ENST00000613706.4:c.215+15827dup	ENSP00000484976.1:n.215+15827dup
ENST00000617164.4:c.583dup	ENSP00000480470.1:p.Ile195AsnfsTer15
ENST00000619009.4:c.364+11063dup	ENSP00000482293.1:n.364+11063dup
ENST00000620057.4:c.364+11063dup	ENSP00000481988.1:n.364+11063dup
NM_000465.3:c.640dup	NP_000456.2:p.Ile214AsnfsTer15
NM_001282543.1:c.583dup	NP_001269472.1:p.Ile195AsnfsTer15
NM_001282545.1:c.215+15827dup	NP_001269474.1:n.215+15827dup
NM_001282548.1:c.158+28178dup	NP_001269477.1:n.158+28178dup
NM_001282549.1:c.364+11063dup	NP_001269478.1:n.364+11063dup
NR_104212.1:n.633dup
NR_104215.1:n.576dup
NR_104216.1:n.506+11063dup
XM_011511567.1:c.586dup	XP_011509869.1:p.Ile196AsnfsTer15
XM_011511568.1:c.640dup	XP_011509870.1:p.Ile214AsnfsTer15
XM_017004613.1:c.739dup	XP_016860102.1:p.Ile247AsnfsTer15
XM_017004614.1:c.739dup	XP_016860103.1:p.Ile247AsnfsTer15
XR_002959322.1:n.830dup
NM_000465.4:c.640dup MANE Select	NP_000456.2:p.Ile214AsnfsTer15
NM_001282543.2:c.583dup	NP_001269472.1:p.Ile195AsnfsTer15
NM_001282545.2:c.215+15827dup	NP_001269474.1:n.215+15827dup
NM_001282548.2:c.158+28178dup	NP_001269477.1:n.158+28178dup
NM_001282549.2:c.364+11063dup	NP_001269478.1:n.364+11063dup
NR_104212.2:n.605dup
NR_104215.2:n.548dup
NR_104216.2:n.478+11063dup