Canonical Allele Identifier: CA2499215632

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1072209
• ClinVar RCV Id: RCV001384862
• dbSNP Id: rs2106111411

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781258dup , CM000664.2:g.214781258dup	GRCh38
NC_000002.11:g.215645982dup , CM000664.1:g.215645982dup	GRCh37
NC_000002.10:g.215354227dup	NCBI36
NG_012047.2:g.33447dup
NG_012047.3:g.33454dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.616dup MANE Select	ENSP00000260947.4:p.Gln206ProfsTer8
ENST00000421162.2:c.215+15803dup	ENSP00000392245.2:n.215+15803dup
ENST00000613192.2:c.158+28154dup	ENSP00000483275.2:n.158+28154dup
ENST00000613374.5:c.158+28154dup	ENSP00000484464.1:n.158+28154dup
ENST00000613706.5:c.616dup	ENSP00000484976.2:p.Gln206ProfsTer8
ENST00000617164.5:c.559dup	ENSP00000480470.1:p.Gln187ProfsTer8
ENST00000619009.5:c.364+11039dup	ENSP00000482293.1:n.364+11039dup
ENST00000650978.1:c.458dup
ENST00000260947.8:c.616dup	ENSP00000260947.4:p.Gln206ProfsTer8
ENST00000421162.1:c.215+15803dup	ENSP00000392245.1:n.215+15803dup
ENST00000455743.5:c.*236dup	ENSP00000412186.1:n.*236dup
ENST00000471787.1:n.511dup
ENST00000613192.1:c.73+28154dup	ENSP00000483275.1:n.73+28154dup
ENST00000613374.4:c.158+28154dup	ENSP00000484464.1:n.158+28154dup
ENST00000613706.4:c.215+15803dup	ENSP00000484976.1:n.215+15803dup
ENST00000617164.4:c.559dup	ENSP00000480470.1:p.Gln187ProfsTer8
ENST00000619009.4:c.364+11039dup	ENSP00000482293.1:n.364+11039dup
ENST00000620057.4:c.364+11039dup	ENSP00000481988.1:n.364+11039dup
NM_000465.3:c.616dup	NP_000456.2:p.Gln206ProfsTer8
NM_001282543.1:c.559dup	NP_001269472.1:p.Gln187ProfsTer8
NM_001282545.1:c.215+15803dup	NP_001269474.1:n.215+15803dup
NM_001282548.1:c.158+28154dup	NP_001269477.1:n.158+28154dup
NM_001282549.1:c.364+11039dup	NP_001269478.1:n.364+11039dup
NR_104212.1:n.609dup
NR_104215.1:n.552dup
NR_104216.1:n.506+11039dup
XM_011511567.1:c.562dup	XP_011509869.1:p.Gln188ProfsTer8
XM_011511568.1:c.616dup	XP_011509870.1:p.Gln206ProfsTer8
XM_017004613.1:c.715dup	XP_016860102.1:p.Gln239ProfsTer8
XM_017004614.1:c.715dup	XP_016860103.1:p.Gln239ProfsTer8
XR_002959322.1:n.806dup
NM_000465.4:c.616dup MANE Select	NP_000456.2:p.Gln206ProfsTer8
NM_001282543.2:c.559dup	NP_001269472.1:p.Gln187ProfsTer8
NM_001282545.2:c.215+15803dup	NP_001269474.1:n.215+15803dup
NM_001282548.2:c.158+28154dup	NP_001269477.1:n.158+28154dup
NM_001282549.2:c.364+11039dup	NP_001269478.1:n.364+11039dup
NR_104212.2:n.581dup
NR_104215.2:n.524dup
NR_104216.2:n.478+11039dup