Canonical Allele Identifier: CA539521791

Gene: BARD1

Linked Data

• dbSNP Id: rs1206899964
• gnomAD v2: 2-215657492-CCTAA-C
• gnomAD v3: 2-214792768-CCTAA-C
• gnomAD v4: 2-214792768-CCTAA-C
• MyVariant Identifiers: chr2:g.215657493_215657496del (hg19) ; chr2:g.214792769_214792772del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792771_214792774del , CM000664.2:g.214792771_214792774del	GRCh38
NC_000002.11:g.215657495_215657498del , CM000664.1:g.215657495_215657498del	GRCh37
NC_000002.10:g.215365740_215365743del	NCBI36
NG_012047.2:g.21933_21936del
NG_012047.3:g.21940_21943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-327_216-324del MANE Select	ENSP00000260947.4:n.216-327_216-324del
ENST00000421162.2:c.215+4289_215+4292del	ENSP00000392245.2:n.215+4289_215+4292del
ENST00000613192.2:c.158+16640_158+16643del	ENSP00000483275.2:n.158+16640_158+16643del
ENST00000613374.5:c.158+16640_158+16643del	ENSP00000484464.1:n.158+16640_158+16643del
ENST00000613706.5:c.216-327_216-324del	ENSP00000484976.2:n.216-327_216-324del
ENST00000617164.5:c.159-327_159-324del	ENSP00000480470.1:n.159-327_159-324del
ENST00000619009.5:c.216-327_216-324del	ENSP00000482293.1:n.216-327_216-324del
ENST00000650978.1:c.58-327_58-324del
ENST00000260947.8:c.216-327_216-324del	ENSP00000260947.4:n.216-327_216-324del
ENST00000421162.1:c.215+4289_215+4292del	ENSP00000392245.1:n.215+4289_215+4292del
ENST00000455743.5:c.215+4289_215+4292del	ENSP00000412186.1:n.215+4289_215+4292del
ENST00000471787.1:n.260-11263_260-11260del
ENST00000613192.1:c.73+16640_73+16643del	ENSP00000483275.1:n.73+16640_73+16643del
ENST00000613374.4:c.158+16640_158+16643del	ENSP00000484464.1:n.158+16640_158+16643del
ENST00000613706.4:c.215+4289_215+4292del	ENSP00000484976.1:n.215+4289_215+4292del
ENST00000617164.4:c.159-327_159-324del	ENSP00000480470.1:n.159-327_159-324del
ENST00000619009.4:c.216-327_216-324del	ENSP00000482293.1:n.216-327_216-324del
ENST00000620057.4:c.216-327_216-324del	ENSP00000481988.1:n.216-327_216-324del
NM_000465.3:c.216-327_216-324del	NP_000456.2:n.216-327_216-324del
NM_001282543.1:c.159-327_159-324del	NP_001269472.1:n.159-327_159-324del
NM_001282545.1:c.215+4289_215+4292del	NP_001269474.1:n.215+4289_215+4292del
NM_001282548.1:c.158+16640_158+16643del	NP_001269477.1:n.158+16640_158+16643del
NM_001282549.1:c.216-327_216-324del	NP_001269478.1:n.216-327_216-324del
NR_104212.1:n.357+4289_357+4292del
NR_104215.1:n.301-11263_301-11260del
NR_104216.1:n.358-327_358-324del
XM_011511567.1:c.162-327_162-324del	XP_011509869.1:n.162-327_162-324del
XM_011511568.1:c.216-327_216-324del	XP_011509870.1:n.216-327_216-324del
XM_017004613.1:c.315-327_315-324del	XP_016860102.1:n.315-327_315-324del
XM_017004614.1:c.315-327_315-324del	XP_016860103.1:n.315-327_315-324del
XR_002959322.1:n.406-327_406-324del
NM_000465.4:c.216-327_216-324del MANE Select	NP_000456.2:n.216-327_216-324del
NM_001282543.2:c.159-327_159-324del	NP_001269472.1:n.159-327_159-324del
NM_001282545.2:c.215+4289_215+4292del	NP_001269474.1:n.215+4289_215+4292del
NM_001282548.2:c.158+16640_158+16643del	NP_001269477.1:n.158+16640_158+16643del
NM_001282549.2:c.216-327_216-324del	NP_001269478.1:n.216-327_216-324del
NR_104212.2:n.329+4289_329+4292del
NR_104215.2:n.273-11263_273-11260del
NR_104216.2:n.330-327_330-324del