Canonical Allele Identifier: CA2662972090

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792478-ACCCATTCAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792479_214792488del , CM000664.2:g.214792479_214792488del	GRCh38
NC_000002.11:g.215657203_215657212del , CM000664.1:g.215657203_215657212del	GRCh37
NC_000002.10:g.215365448_215365457del	NCBI36
NG_012047.2:g.22217_22226del
NG_012047.3:g.22224_22233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-43_216-34del MANE Select	ENSP00000260947.4:n.216-43_216-34del
ENST00000421162.2:c.215+4573_215+4582del	ENSP00000392245.2:n.215+4573_215+4582del
ENST00000613192.2:c.158+16924_158+16933del	ENSP00000483275.2:n.158+16924_158+16933del
ENST00000613374.5:c.158+16924_158+16933del	ENSP00000484464.1:n.158+16924_158+16933del
ENST00000613706.5:c.216-43_216-34del	ENSP00000484976.2:n.216-43_216-34del
ENST00000617164.5:c.159-43_159-34del	ENSP00000480470.1:n.159-43_159-34del
ENST00000619009.5:c.216-43_216-34del	ENSP00000482293.1:n.216-43_216-34del
ENST00000650978.1:c.58-43_58-34del
ENST00000260947.8:c.216-43_216-34del	ENSP00000260947.4:n.216-43_216-34del
ENST00000421162.1:c.215+4573_215+4582del	ENSP00000392245.1:n.215+4573_215+4582del
ENST00000455743.5:c.215+4573_215+4582del	ENSP00000412186.1:n.215+4573_215+4582del
ENST00000471787.1:n.260-10979_260-10970del
ENST00000613192.1:c.73+16924_73+16933del	ENSP00000483275.1:n.73+16924_73+16933del
ENST00000613374.4:c.158+16924_158+16933del	ENSP00000484464.1:n.158+16924_158+16933del
ENST00000613706.4:c.215+4573_215+4582del	ENSP00000484976.1:n.215+4573_215+4582del
ENST00000617164.4:c.159-43_159-34del	ENSP00000480470.1:n.159-43_159-34del
ENST00000619009.4:c.216-43_216-34del	ENSP00000482293.1:n.216-43_216-34del
ENST00000620057.4:c.216-43_216-34del	ENSP00000481988.1:n.216-43_216-34del
NM_000465.3:c.216-43_216-34del	NP_000456.2:n.216-43_216-34del
NM_001282543.1:c.159-43_159-34del	NP_001269472.1:n.159-43_159-34del
NM_001282545.1:c.215+4573_215+4582del	NP_001269474.1:n.215+4573_215+4582del
NM_001282548.1:c.158+16924_158+16933del	NP_001269477.1:n.158+16924_158+16933del
NM_001282549.1:c.216-43_216-34del	NP_001269478.1:n.216-43_216-34del
NR_104212.1:n.357+4573_357+4582del
NR_104215.1:n.301-10979_301-10970del
NR_104216.1:n.358-43_358-34del
XM_011511567.1:c.162-43_162-34del	XP_011509869.1:n.162-43_162-34del
XM_011511568.1:c.216-43_216-34del	XP_011509870.1:n.216-43_216-34del
XM_017004613.1:c.315-43_315-34del	XP_016860102.1:n.315-43_315-34del
XM_017004614.1:c.315-43_315-34del	XP_016860103.1:n.315-43_315-34del
XR_002959322.1:n.406-43_406-34del
NM_000465.4:c.216-43_216-34del MANE Select	NP_000456.2:n.216-43_216-34del
NM_001282543.2:c.159-43_159-34del	NP_001269472.1:n.159-43_159-34del
NM_001282545.2:c.215+4573_215+4582del	NP_001269474.1:n.215+4573_215+4582del
NM_001282548.2:c.158+16924_158+16933del	NP_001269477.1:n.158+16924_158+16933del
NM_001282549.2:c.216-43_216-34del	NP_001269478.1:n.216-43_216-34del
NR_104212.2:n.329+4573_329+4582del
NR_104215.2:n.273-10979_273-10970del
NR_104216.2:n.330-43_330-34del