Canonical Allele Identifier: CA539837405

Gene: BARD1

Linked Data

• dbSNP Id: rs1341940904
• gnomAD v2: 2-215657193-A-AG
• gnomAD v4: 2-214792469-A-AG
• MyVariant Identifiers: chr2:g.215657193_215657194insG (hg19) ; chr2:g.214792469_214792470insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792469_214792470insG , CM000664.2:g.214792469_214792470insG	GRCh38
NC_000002.11:g.215657193_215657194insG , CM000664.1:g.215657193_215657194insG	GRCh37
NC_000002.10:g.215365438_215365439insG	NCBI36
NG_012047.2:g.22235_22236insC
NG_012047.3:g.22242_22243insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-25_216-24insC MANE Select	ENSP00000260947.4:n.216-25_216-24insC
ENST00000421162.2:c.215+4591_215+4592insC	ENSP00000392245.2:n.215+4591_215+4592insC
ENST00000613192.2:c.158+16942_158+16943insC	ENSP00000483275.2:n.158+16942_158+16943insC
ENST00000613374.5:c.158+16942_158+16943insC	ENSP00000484464.1:n.158+16942_158+16943insC
ENST00000613706.5:c.216-25_216-24insC	ENSP00000484976.2:n.216-25_216-24insC
ENST00000617164.5:c.159-25_159-24insC	ENSP00000480470.1:n.159-25_159-24insC
ENST00000619009.5:c.216-25_216-24insC	ENSP00000482293.1:n.216-25_216-24insC
ENST00000650978.1:c.58-25_58-24insC
ENST00000260947.8:c.216-25_216-24insC	ENSP00000260947.4:n.216-25_216-24insC
ENST00000421162.1:c.215+4591_215+4592insC	ENSP00000392245.1:n.215+4591_215+4592insC
ENST00000455743.5:c.215+4591_215+4592insC	ENSP00000412186.1:n.215+4591_215+4592insC
ENST00000471787.1:n.260-10961_260-10960insC
ENST00000613192.1:c.73+16942_73+16943insC	ENSP00000483275.1:n.73+16942_73+16943insC
ENST00000613374.4:c.158+16942_158+16943insC	ENSP00000484464.1:n.158+16942_158+16943insC
ENST00000613706.4:c.215+4591_215+4592insC	ENSP00000484976.1:n.215+4591_215+4592insC
ENST00000617164.4:c.159-25_159-24insC	ENSP00000480470.1:n.159-25_159-24insC
ENST00000619009.4:c.216-25_216-24insC	ENSP00000482293.1:n.216-25_216-24insC
ENST00000620057.4:c.216-25_216-24insC	ENSP00000481988.1:n.216-25_216-24insC
NM_000465.3:c.216-25_216-24insC	NP_000456.2:n.216-25_216-24insC
NM_001282543.1:c.159-25_159-24insC	NP_001269472.1:n.159-25_159-24insC
NM_001282545.1:c.215+4591_215+4592insC	NP_001269474.1:n.215+4591_215+4592insC
NM_001282548.1:c.158+16942_158+16943insC	NP_001269477.1:n.158+16942_158+16943insC
NM_001282549.1:c.216-25_216-24insC	NP_001269478.1:n.216-25_216-24insC
NR_104212.1:n.357+4591_357+4592insC
NR_104215.1:n.301-10961_301-10960insC
NR_104216.1:n.358-25_358-24insC
XM_011511567.1:c.162-25_162-24insC	XP_011509869.1:n.162-25_162-24insC
XM_011511568.1:c.216-25_216-24insC	XP_011509870.1:n.216-25_216-24insC
XM_017004613.1:c.315-25_315-24insC	XP_016860102.1:n.315-25_315-24insC
XM_017004614.1:c.315-25_315-24insC	XP_016860103.1:n.315-25_315-24insC
XR_002959322.1:n.406-25_406-24insC
NM_000465.4:c.216-25_216-24insC MANE Select	NP_000456.2:n.216-25_216-24insC
NM_001282543.2:c.159-25_159-24insC	NP_001269472.1:n.159-25_159-24insC
NM_001282545.2:c.215+4591_215+4592insC	NP_001269474.1:n.215+4591_215+4592insC
NM_001282548.2:c.158+16942_158+16943insC	NP_001269477.1:n.158+16942_158+16943insC
NM_001282549.2:c.216-25_216-24insC	NP_001269478.1:n.216-25_216-24insC
NR_104212.2:n.329+4591_329+4592insC
NR_104215.2:n.273-10961_273-10960insC
NR_104216.2:n.330-25_330-24insC