Canonical Allele Identifier: CA64798707

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1225038
• ClinVar RCV Id: RCV001608496
• dbSNP Id: rs536345234
• gnomAD v2: 2-215656874-T-TA
• gnomAD v3: 2-214792150-T-TA
• gnomAD v4: 2-214792150-T-TA
• MyVariant Identifiers: chr2:g.215656876_215656877insA (hg19) ; chr2:g.215656874_215656875insA (hg19) ; chr2:g.214792152_214792153insA (hg38) ; chr2:g.214792150_214792151insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792168dup , CM000664.2:g.214792168dup	GRCh38
NC_000002.11:g.215656892dup , CM000664.1:g.215656892dup	GRCh37
NC_000002.10:g.215365137dup	NCBI36
NG_012047.2:g.22554dup
NG_012047.3:g.22561dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.364+146dup MANE Select	ENSP00000260947.4:n.364+146dup
ENST00000421162.2:c.215+4910dup	ENSP00000392245.2:n.215+4910dup
ENST00000613192.2:c.158+17261dup	ENSP00000483275.2:n.158+17261dup
ENST00000613374.5:c.158+17261dup	ENSP00000484464.1:n.158+17261dup
ENST00000613706.5:c.364+146dup	ENSP00000484976.2:n.364+146dup
ENST00000617164.5:c.307+146dup	ENSP00000480470.1:n.307+146dup
ENST00000619009.5:c.364+146dup	ENSP00000482293.1:n.364+146dup
ENST00000650978.1:c.206+146dup
ENST00000260947.8:c.364+146dup	ENSP00000260947.4:n.364+146dup
ENST00000421162.1:c.215+4910dup	ENSP00000392245.1:n.215+4910dup
ENST00000455743.5:c.215+4910dup	ENSP00000412186.1:n.215+4910dup
ENST00000471787.1:n.260-10642dup
ENST00000613192.1:c.73+17261dup	ENSP00000483275.1:n.73+17261dup
ENST00000613374.4:c.158+17261dup	ENSP00000484464.1:n.158+17261dup
ENST00000613706.4:c.215+4910dup	ENSP00000484976.1:n.215+4910dup
ENST00000617164.4:c.307+146dup	ENSP00000480470.1:n.307+146dup
ENST00000619009.4:c.364+146dup	ENSP00000482293.1:n.364+146dup
ENST00000620057.4:c.364+146dup	ENSP00000481988.1:n.364+146dup
NM_000465.3:c.364+146dup	NP_000456.2:n.364+146dup
NM_001282543.1:c.307+146dup	NP_001269472.1:n.307+146dup
NM_001282545.1:c.215+4910dup	NP_001269474.1:n.215+4910dup
NM_001282548.1:c.158+17261dup	NP_001269477.1:n.158+17261dup
NM_001282549.1:c.364+146dup	NP_001269478.1:n.364+146dup
NR_104212.1:n.357+4910dup
NR_104215.1:n.301-10642dup
NR_104216.1:n.506+146dup
XM_011511567.1:c.310+146dup	XP_011509869.1:n.310+146dup
XM_011511568.1:c.364+146dup	XP_011509870.1:n.364+146dup
XM_017004613.1:c.463+146dup	XP_016860102.1:n.463+146dup
XM_017004614.1:c.463+146dup	XP_016860103.1:n.463+146dup
XR_002959322.1:n.554+146dup
NM_000465.4:c.364+146dup MANE Select	NP_000456.2:n.364+146dup
NM_001282543.2:c.307+146dup	NP_001269472.1:n.307+146dup
NM_001282545.2:c.215+4910dup	NP_001269474.1:n.215+4910dup
NM_001282548.2:c.158+17261dup	NP_001269477.1:n.158+17261dup
NM_001282549.2:c.364+146dup	NP_001269478.1:n.364+146dup
NR_104212.2:n.329+4910dup
NR_104215.2:n.273-10642dup
NR_104216.2:n.478+146dup