Canonical Allele Identifier: CA658683291

Gene: BARD1

Linked Data

• ClinVar Variation Id: 490958
• ClinVar RCV Id: RCV000581341 ; RCV003607328
• dbSNP Id: rs1553624868
• gnomAD v4: 2-214792463-A-AC
• MyVariant Identifiers: chr2:g.215657187_215657188insC (hg19) ; chr2:g.214792463_214792464insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792463_214792464insC , CM000664.2:g.214792463_214792464insC	GRCh38
NC_000002.11:g.215657187_215657188insC , CM000664.1:g.215657187_215657188insC	GRCh37
NC_000002.10:g.215365432_215365433insC	NCBI36
NG_012047.2:g.22241_22242insG
NG_012047.3:g.22248_22249insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-19_216-18insG MANE Select	ENSP00000260947.4:n.216-19_216-18insG
ENST00000421162.2:c.215+4597_215+4598insG	ENSP00000392245.2:n.215+4597_215+4598insG
ENST00000613192.2:c.158+16948_158+16949insG	ENSP00000483275.2:n.158+16948_158+16949insG
ENST00000613374.5:c.158+16948_158+16949insG	ENSP00000484464.1:n.158+16948_158+16949insG
ENST00000613706.5:c.216-19_216-18insG	ENSP00000484976.2:n.216-19_216-18insG
ENST00000617164.5:c.159-19_159-18insG	ENSP00000480470.1:n.159-19_159-18insG
ENST00000619009.5:c.216-19_216-18insG	ENSP00000482293.1:n.216-19_216-18insG
ENST00000650978.1:c.58-19_58-18insG
ENST00000260947.8:c.216-19_216-18insG	ENSP00000260947.4:n.216-19_216-18insG
ENST00000421162.1:c.215+4597_215+4598insG	ENSP00000392245.1:n.215+4597_215+4598insG
ENST00000455743.5:c.215+4597_215+4598insG	ENSP00000412186.1:n.215+4597_215+4598insG
ENST00000471787.1:n.260-10955_260-10954insG
ENST00000613192.1:c.73+16948_73+16949insG	ENSP00000483275.1:n.73+16948_73+16949insG
ENST00000613374.4:c.158+16948_158+16949insG	ENSP00000484464.1:n.158+16948_158+16949insG
ENST00000613706.4:c.215+4597_215+4598insG	ENSP00000484976.1:n.215+4597_215+4598insG
ENST00000617164.4:c.159-19_159-18insG	ENSP00000480470.1:n.159-19_159-18insG
ENST00000619009.4:c.216-19_216-18insG	ENSP00000482293.1:n.216-19_216-18insG
ENST00000620057.4:c.216-19_216-18insG	ENSP00000481988.1:n.216-19_216-18insG
NM_000465.3:c.216-19_216-18insG	NP_000456.2:n.216-19_216-18insG
NM_001282543.1:c.159-19_159-18insG	NP_001269472.1:n.159-19_159-18insG
NM_001282545.1:c.215+4597_215+4598insG	NP_001269474.1:n.215+4597_215+4598insG
NM_001282548.1:c.158+16948_158+16949insG	NP_001269477.1:n.158+16948_158+16949insG
NM_001282549.1:c.216-19_216-18insG	NP_001269478.1:n.216-19_216-18insG
NR_104212.1:n.357+4597_357+4598insG
NR_104215.1:n.301-10955_301-10954insG
NR_104216.1:n.358-19_358-18insG
XM_011511567.1:c.162-19_162-18insG	XP_011509869.1:n.162-19_162-18insG
XM_011511568.1:c.216-19_216-18insG	XP_011509870.1:n.216-19_216-18insG
XM_017004613.1:c.315-19_315-18insG	XP_016860102.1:n.315-19_315-18insG
XM_017004614.1:c.315-19_315-18insG	XP_016860103.1:n.315-19_315-18insG
XR_002959322.1:n.406-19_406-18insG
NM_000465.4:c.216-19_216-18insG MANE Select	NP_000456.2:n.216-19_216-18insG
NM_001282543.2:c.159-19_159-18insG	NP_001269472.1:n.159-19_159-18insG
NM_001282545.2:c.215+4597_215+4598insG	NP_001269474.1:n.215+4597_215+4598insG
NM_001282548.2:c.158+16948_158+16949insG	NP_001269477.1:n.158+16948_158+16949insG
NM_001282549.2:c.216-19_216-18insG	NP_001269478.1:n.216-19_216-18insG
NR_104212.2:n.329+4597_329+4598insG
NR_104215.2:n.273-10955_273-10954insG
NR_104216.2:n.330-19_330-18insG