Canonical Allele Identifier: CA539837346

Gene: BARD1

Linked Data

• dbSNP Id: rs1559436394
• gnomAD v2: 2-215656805-T-TG
• gnomAD v3: 2-214792081-T-TG
• gnomAD v4: 2-214792081-T-TG
• MyVariant Identifiers: chr2:g.215656806_215656807insG (hg19) ; chr2:g.214792082_214792083insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792087dup , CM000664.2:g.214792087dup	GRCh38
NC_000002.11:g.215656811dup , CM000664.1:g.215656811dup	GRCh37
NC_000002.10:g.215365056dup	NCBI36
NG_012047.2:g.22623dup
NG_012047.3:g.22630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.364+215dup MANE Select	ENSP00000260947.4:n.364+215dup
ENST00000421162.2:c.215+4979dup	ENSP00000392245.2:n.215+4979dup
ENST00000613192.2:c.158+17330dup	ENSP00000483275.2:n.158+17330dup
ENST00000613374.5:c.158+17330dup	ENSP00000484464.1:n.158+17330dup
ENST00000613706.5:c.364+215dup	ENSP00000484976.2:n.364+215dup
ENST00000617164.5:c.307+215dup	ENSP00000480470.1:n.307+215dup
ENST00000619009.5:c.364+215dup	ENSP00000482293.1:n.364+215dup
ENST00000650978.1:c.206+215dup
ENST00000260947.8:c.364+215dup	ENSP00000260947.4:n.364+215dup
ENST00000421162.1:c.215+4979dup	ENSP00000392245.1:n.215+4979dup
ENST00000455743.5:c.215+4979dup	ENSP00000412186.1:n.215+4979dup
ENST00000471787.1:n.260-10573dup
ENST00000613192.1:c.73+17330dup	ENSP00000483275.1:n.73+17330dup
ENST00000613374.4:c.158+17330dup	ENSP00000484464.1:n.158+17330dup
ENST00000613706.4:c.215+4979dup	ENSP00000484976.1:n.215+4979dup
ENST00000617164.4:c.307+215dup	ENSP00000480470.1:n.307+215dup
ENST00000619009.4:c.364+215dup	ENSP00000482293.1:n.364+215dup
ENST00000620057.4:c.364+215dup	ENSP00000481988.1:n.364+215dup
NM_000465.3:c.364+215dup	NP_000456.2:n.364+215dup
NM_001282543.1:c.307+215dup	NP_001269472.1:n.307+215dup
NM_001282545.1:c.215+4979dup	NP_001269474.1:n.215+4979dup
NM_001282548.1:c.158+17330dup	NP_001269477.1:n.158+17330dup
NM_001282549.1:c.364+215dup	NP_001269478.1:n.364+215dup
NR_104212.1:n.357+4979dup
NR_104215.1:n.301-10573dup
NR_104216.1:n.506+215dup
XM_011511567.1:c.310+215dup	XP_011509869.1:n.310+215dup
XM_011511568.1:c.364+215dup	XP_011509870.1:n.364+215dup
XM_017004613.1:c.463+215dup	XP_016860102.1:n.463+215dup
XM_017004614.1:c.463+215dup	XP_016860103.1:n.463+215dup
XR_002959322.1:n.554+215dup
NM_000465.4:c.364+215dup MANE Select	NP_000456.2:n.364+215dup
NM_001282543.2:c.307+215dup	NP_001269472.1:n.307+215dup
NM_001282545.2:c.215+4979dup	NP_001269474.1:n.215+4979dup
NM_001282548.2:c.158+17330dup	NP_001269477.1:n.158+17330dup
NM_001282549.2:c.364+215dup	NP_001269478.1:n.364+215dup
NR_104212.2:n.329+4979dup
NR_104215.2:n.273-10573dup
NR_104216.2:n.478+215dup