Canonical Allele Identifier: CA2573135133

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1484050
• ClinVar RCV Id: RCV002003392 ; RCV003585181
• dbSNP Id: rs2106135604

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792451_214792456del , CM000664.2:g.214792451_214792456del	GRCh38
NC_000002.11:g.215657175_215657180del , CM000664.1:g.215657175_215657180del	GRCh37
NC_000002.10:g.215365420_215365425del	NCBI36
NG_012047.2:g.22250_22255del
NG_012047.3:g.22257_22262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-10_216-5del MANE Select	ENSP00000260947.4:n.216-10_216-5del
ENST00000421162.2:c.215+4606_215+4611del	ENSP00000392245.2:n.215+4606_215+4611del
ENST00000613192.2:c.158+16957_158+16962del	ENSP00000483275.2:n.158+16957_158+16962del
ENST00000613374.5:c.158+16957_158+16962del	ENSP00000484464.1:n.158+16957_158+16962del
ENST00000613706.5:c.216-10_216-5del	ENSP00000484976.2:n.216-10_216-5del
ENST00000617164.5:c.159-10_159-5del	ENSP00000480470.1:n.159-10_159-5del
ENST00000619009.5:c.216-10_216-5del	ENSP00000482293.1:n.216-10_216-5del
ENST00000650978.1:c.58-10_58-5del
ENST00000260947.8:c.216-10_216-5del	ENSP00000260947.4:n.216-10_216-5del
ENST00000421162.1:c.215+4606_215+4611del	ENSP00000392245.1:n.215+4606_215+4611del
ENST00000455743.5:c.215+4606_215+4611del	ENSP00000412186.1:n.215+4606_215+4611del
ENST00000471787.1:n.260-10946_260-10941del
ENST00000613192.1:c.73+16957_73+16962del	ENSP00000483275.1:n.73+16957_73+16962del
ENST00000613374.4:c.158+16957_158+16962del	ENSP00000484464.1:n.158+16957_158+16962del
ENST00000613706.4:c.215+4606_215+4611del	ENSP00000484976.1:n.215+4606_215+4611del
ENST00000617164.4:c.159-10_159-5del	ENSP00000480470.1:n.159-10_159-5del
ENST00000619009.4:c.216-10_216-5del	ENSP00000482293.1:n.216-10_216-5del
ENST00000620057.4:c.216-10_216-5del	ENSP00000481988.1:n.216-10_216-5del
NM_000465.3:c.216-10_216-5del	NP_000456.2:n.216-10_216-5del
NM_001282543.1:c.159-10_159-5del	NP_001269472.1:n.159-10_159-5del
NM_001282545.1:c.215+4606_215+4611del	NP_001269474.1:n.215+4606_215+4611del
NM_001282548.1:c.158+16957_158+16962del	NP_001269477.1:n.158+16957_158+16962del
NM_001282549.1:c.216-10_216-5del	NP_001269478.1:n.216-10_216-5del
NR_104212.1:n.357+4606_357+4611del
NR_104215.1:n.301-10946_301-10941del
NR_104216.1:n.358-10_358-5del
XM_011511567.1:c.162-10_162-5del	XP_011509869.1:n.162-10_162-5del
XM_011511568.1:c.216-10_216-5del	XP_011509870.1:n.216-10_216-5del
XM_017004613.1:c.315-10_315-5del	XP_016860102.1:n.315-10_315-5del
XM_017004614.1:c.315-10_315-5del	XP_016860103.1:n.315-10_315-5del
XR_002959322.1:n.406-10_406-5del
NM_000465.4:c.216-10_216-5del MANE Select	NP_000456.2:n.216-10_216-5del
NM_001282543.2:c.159-10_159-5del	NP_001269472.1:n.159-10_159-5del
NM_001282545.2:c.215+4606_215+4611del	NP_001269474.1:n.215+4606_215+4611del
NM_001282548.2:c.158+16957_158+16962del	NP_001269477.1:n.158+16957_158+16962del
NM_001282549.2:c.216-10_216-5del	NP_001269478.1:n.216-10_216-5del
NR_104212.2:n.329+4606_329+4611del
NR_104215.2:n.273-10946_273-10941del
NR_104216.2:n.330-10_330-5del