Canonical Allele Identifier: CA16610750

Gene: BARD1

Linked Data

• ClinVar Variation Id: 406757
• ClinVar RCV Id: RCV000460296
• dbSNP Id: rs1553622487
• MyVariant Identifiers: chr2:g.215645853dupT (hg19) ; chr2:g.215645852_215645853insT (hg19) ; chr2:g.214781129dupT (hg38) ; chr2:g.214781128_214781129insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781129dup , CM000664.2:g.214781129dup	GRCh38
NC_000002.11:g.215645853dup , CM000664.1:g.215645853dup	GRCh37
NC_000002.10:g.215354098dup	NCBI36
NG_012047.2:g.33576dup
NG_012047.3:g.33583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.745dup MANE Select	ENSP00000260947.4:p.Ile249AsnfsTer9
ENST00000421162.2:c.215+15932dup	ENSP00000392245.2:n.215+15932dup
ENST00000613192.2:c.158+28283dup	ENSP00000483275.2:n.158+28283dup
ENST00000613374.5:c.158+28283dup	ENSP00000484464.1:n.158+28283dup
ENST00000613706.5:c.745dup	ENSP00000484976.2:p.Ile249AsnfsTer9
ENST00000617164.5:c.688dup	ENSP00000480470.1:p.Ile230AsnfsTer9
ENST00000619009.5:c.364+11168dup	ENSP00000482293.1:n.364+11168dup
ENST00000650978.1:c.587dup
ENST00000260947.8:c.745dup	ENSP00000260947.4:p.Ile249AsnfsTer9
ENST00000421162.1:c.215+15932dup	ENSP00000392245.1:n.215+15932dup
ENST00000455743.5:c.*365dup	ENSP00000412186.1:n.*365dup
ENST00000471787.1:n.640dup
ENST00000613192.1:c.73+28283dup	ENSP00000483275.1:n.73+28283dup
ENST00000613374.4:c.158+28283dup	ENSP00000484464.1:n.158+28283dup
ENST00000613706.4:c.215+15932dup	ENSP00000484976.1:n.215+15932dup
ENST00000617164.4:c.688dup	ENSP00000480470.1:p.Ile230AsnfsTer9
ENST00000619009.4:c.364+11168dup	ENSP00000482293.1:n.364+11168dup
ENST00000620057.4:c.364+11168dup	ENSP00000481988.1:n.364+11168dup
NM_000465.3:c.745dup	NP_000456.2:p.Ile249AsnfsTer9
NM_001282543.1:c.688dup	NP_001269472.1:p.Ile230AsnfsTer9
NM_001282545.1:c.215+15932dup	NP_001269474.1:n.215+15932dup
NM_001282548.1:c.158+28283dup	NP_001269477.1:n.158+28283dup
NM_001282549.1:c.364+11168dup	NP_001269478.1:n.364+11168dup
NR_104212.1:n.738dup
NR_104215.1:n.681dup
NR_104216.1:n.506+11168dup
XM_011511567.1:c.691dup	XP_011509869.1:p.Ile231AsnfsTer9
XM_011511568.1:c.745dup	XP_011509870.1:p.Ile249AsnfsTer9
XM_017004613.1:c.844dup	XP_016860102.1:p.Ile282AsnfsTer9
XM_017004614.1:c.844dup	XP_016860103.1:p.Ile282AsnfsTer9
XR_002959322.1:n.935dup
NM_000465.4:c.745dup MANE Select	NP_000456.2:p.Ile249AsnfsTer9
NM_001282543.2:c.688dup	NP_001269472.1:p.Ile230AsnfsTer9
NM_001282545.2:c.215+15932dup	NP_001269474.1:n.215+15932dup
NM_001282548.2:c.158+28283dup	NP_001269477.1:n.158+28283dup
NM_001282549.2:c.364+11168dup	NP_001269478.1:n.364+11168dup
NR_104212.2:n.710dup
NR_104215.2:n.653dup
NR_104216.2:n.478+11168dup