Canonical Allele Identifier: CA764553712

Gene: BARD1

Linked Data

• dbSNP Id: rs1489415510
• MyVariant Identifiers: chr2:g.215657387_215657390del (hg19) ; chr2:g.214792663_214792666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792664_214792667del , CM000664.2:g.214792664_214792667del	GRCh38
NC_000002.11:g.215657388_215657391del , CM000664.1:g.215657388_215657391del	GRCh37
NC_000002.10:g.215365633_215365636del	NCBI36
NG_012047.2:g.22039_22042del
NG_012047.3:g.22046_22049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-221_216-218del MANE Select	ENSP00000260947.4:n.216-221_216-218del
ENST00000421162.2:c.215+4395_215+4398del	ENSP00000392245.2:n.215+4395_215+4398del
ENST00000613192.2:c.158+16746_158+16749del	ENSP00000483275.2:n.158+16746_158+16749del
ENST00000613374.5:c.158+16746_158+16749del	ENSP00000484464.1:n.158+16746_158+16749del
ENST00000613706.5:c.216-221_216-218del	ENSP00000484976.2:n.216-221_216-218del
ENST00000617164.5:c.159-221_159-218del	ENSP00000480470.1:n.159-221_159-218del
ENST00000619009.5:c.216-221_216-218del	ENSP00000482293.1:n.216-221_216-218del
ENST00000650978.1:c.58-221_58-218del
ENST00000260947.8:c.216-221_216-218del	ENSP00000260947.4:n.216-221_216-218del
ENST00000421162.1:c.215+4395_215+4398del	ENSP00000392245.1:n.215+4395_215+4398del
ENST00000455743.5:c.215+4395_215+4398del	ENSP00000412186.1:n.215+4395_215+4398del
ENST00000471787.1:n.260-11157_260-11154del
ENST00000613192.1:c.73+16746_73+16749del	ENSP00000483275.1:n.73+16746_73+16749del
ENST00000613374.4:c.158+16746_158+16749del	ENSP00000484464.1:n.158+16746_158+16749del
ENST00000613706.4:c.215+4395_215+4398del	ENSP00000484976.1:n.215+4395_215+4398del
ENST00000617164.4:c.159-221_159-218del	ENSP00000480470.1:n.159-221_159-218del
ENST00000619009.4:c.216-221_216-218del	ENSP00000482293.1:n.216-221_216-218del
ENST00000620057.4:c.216-221_216-218del	ENSP00000481988.1:n.216-221_216-218del
NM_000465.3:c.216-221_216-218del	NP_000456.2:n.216-221_216-218del
NM_001282543.1:c.159-221_159-218del	NP_001269472.1:n.159-221_159-218del
NM_001282545.1:c.215+4395_215+4398del	NP_001269474.1:n.215+4395_215+4398del
NM_001282548.1:c.158+16746_158+16749del	NP_001269477.1:n.158+16746_158+16749del
NM_001282549.1:c.216-221_216-218del	NP_001269478.1:n.216-221_216-218del
NR_104212.1:n.357+4395_357+4398del
NR_104215.1:n.301-11157_301-11154del
NR_104216.1:n.358-221_358-218del
XM_011511567.1:c.162-221_162-218del	XP_011509869.1:n.162-221_162-218del
XM_011511568.1:c.216-221_216-218del	XP_011509870.1:n.216-221_216-218del
XM_017004613.1:c.315-221_315-218del	XP_016860102.1:n.315-221_315-218del
XM_017004614.1:c.315-221_315-218del	XP_016860103.1:n.315-221_315-218del
XR_002959322.1:n.406-221_406-218del
NM_000465.4:c.216-221_216-218del MANE Select	NP_000456.2:n.216-221_216-218del
NM_001282543.2:c.159-221_159-218del	NP_001269472.1:n.159-221_159-218del
NM_001282545.2:c.215+4395_215+4398del	NP_001269474.1:n.215+4395_215+4398del
NM_001282548.2:c.158+16746_158+16749del	NP_001269477.1:n.158+16746_158+16749del
NM_001282549.2:c.216-221_216-218del	NP_001269478.1:n.216-221_216-218del
NR_104212.2:n.329+4395_329+4398del
NR_104215.2:n.273-11157_273-11154del
NR_104216.2:n.330-221_330-218del