Canonical Allele Identifier: CA913188043

Gene: BARD1

Linked Data

• ClinVar Variation Id: 628019
• ClinVar RCV Id: RCV000772296 ; RCV003500590
• dbSNP Id: rs1559437347
• gnomAD v4: 2-214792448-TTAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792452_214792456del , CM000664.2:g.214792452_214792456del	GRCh38
NC_000002.11:g.215657176_215657180del , CM000664.1:g.215657176_215657180del	GRCh37
NC_000002.10:g.215365421_215365425del	NCBI36
NG_012047.2:g.22252_22256del
NG_012047.3:g.22259_22263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.216-8_216-4del MANE Select	ENSP00000260947.4:n.216-8_216-4del
ENST00000421162.2:c.215+4608_215+4612del	ENSP00000392245.2:n.215+4608_215+4612del
ENST00000613192.2:c.158+16959_158+16963del	ENSP00000483275.2:n.158+16959_158+16963del
ENST00000613374.5:c.158+16959_158+16963del	ENSP00000484464.1:n.158+16959_158+16963del
ENST00000613706.5:c.216-8_216-4del	ENSP00000484976.2:n.216-8_216-4del
ENST00000617164.5:c.159-8_159-4del	ENSP00000480470.1:n.159-8_159-4del
ENST00000619009.5:c.216-8_216-4del	ENSP00000482293.1:n.216-8_216-4del
ENST00000650978.1:c.58-8_58-4del
ENST00000260947.8:c.216-8_216-4del	ENSP00000260947.4:n.216-8_216-4del
ENST00000421162.1:c.215+4608_215+4612del	ENSP00000392245.1:n.215+4608_215+4612del
ENST00000455743.5:c.215+4608_215+4612del	ENSP00000412186.1:n.215+4608_215+4612del
ENST00000471787.1:n.260-10944_260-10940del
ENST00000613192.1:c.73+16959_73+16963del	ENSP00000483275.1:n.73+16959_73+16963del
ENST00000613374.4:c.158+16959_158+16963del	ENSP00000484464.1:n.158+16959_158+16963del
ENST00000613706.4:c.215+4608_215+4612del	ENSP00000484976.1:n.215+4608_215+4612del
ENST00000617164.4:c.159-8_159-4del	ENSP00000480470.1:n.159-8_159-4del
ENST00000619009.4:c.216-8_216-4del	ENSP00000482293.1:n.216-8_216-4del
ENST00000620057.4:c.216-8_216-4del	ENSP00000481988.1:n.216-8_216-4del
NM_000465.3:c.216-8_216-4del	NP_000456.2:n.216-8_216-4del
NM_001282543.1:c.159-8_159-4del	NP_001269472.1:n.159-8_159-4del
NM_001282545.1:c.215+4608_215+4612del	NP_001269474.1:n.215+4608_215+4612del
NM_001282548.1:c.158+16959_158+16963del	NP_001269477.1:n.158+16959_158+16963del
NM_001282549.1:c.216-8_216-4del	NP_001269478.1:n.216-8_216-4del
NR_104212.1:n.357+4608_357+4612del
NR_104215.1:n.301-10944_301-10940del
NR_104216.1:n.358-8_358-4del
XM_011511567.1:c.162-8_162-4del	XP_011509869.1:n.162-8_162-4del
XM_011511568.1:c.216-8_216-4del	XP_011509870.1:n.216-8_216-4del
XM_017004613.1:c.315-8_315-4del	XP_016860102.1:n.315-8_315-4del
XM_017004614.1:c.315-8_315-4del	XP_016860103.1:n.315-8_315-4del
XR_002959322.1:n.406-8_406-4del
NM_000465.4:c.216-8_216-4del MANE Select	NP_000456.2:n.216-8_216-4del
NM_001282543.2:c.159-8_159-4del	NP_001269472.1:n.159-8_159-4del
NM_001282545.2:c.215+4608_215+4612del	NP_001269474.1:n.215+4608_215+4612del
NM_001282548.2:c.158+16959_158+16963del	NP_001269477.1:n.158+16959_158+16963del
NM_001282549.2:c.216-8_216-4del	NP_001269478.1:n.216-8_216-4del
NR_104212.2:n.329+4608_329+4612del
NR_104215.2:n.273-10944_273-10940del
NR_104216.2:n.330-8_330-4del