Canonical Allele Identifier: CA1327076737

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583467
• ClinVar RCV Id: RCV003337138
• dbSNP Id: rs1695567474

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792430_214792433del , CM000664.2:g.214792430_214792433del	GRCh38
NC_000002.11:g.215657154_215657157del , CM000664.1:g.215657154_215657157del	GRCh37
NC_000002.10:g.215365399_215365402del	NCBI36
NG_012047.2:g.22274_22277del
NG_012047.3:g.22281_22284del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.230_233del MANE Select	ENSP00000260947.4:p.Asp77AlafsTer18
ENST00000421162.2:c.215+4630_215+4633del	ENSP00000392245.2:n.215+4630_215+4633del
ENST00000613192.2:c.158+16981_158+16984del	ENSP00000483275.2:n.158+16981_158+16984del
ENST00000613374.5:c.158+16981_158+16984del	ENSP00000484464.1:n.158+16981_158+16984del
ENST00000613706.5:c.230_233del	ENSP00000484976.2:p.Asp77AlafsTer18
ENST00000617164.5:c.173_176del	ENSP00000480470.1:p.Asp58AlafsTer18
ENST00000619009.5:c.230_233del	ENSP00000482293.1:p.Asp77AlafsTer18
ENST00000650978.1:c.72_75del
ENST00000260947.8:c.230_233del	ENSP00000260947.4:p.Asp77AlafsTer18
ENST00000421162.1:c.215+4630_215+4633del	ENSP00000392245.1:n.215+4630_215+4633del
ENST00000455743.5:c.215+4630_215+4633del	ENSP00000412186.1:n.215+4630_215+4633del
ENST00000471787.1:n.260-10922_260-10919del
ENST00000613192.1:c.73+16981_73+16984del	ENSP00000483275.1:n.73+16981_73+16984del
ENST00000613374.4:c.158+16981_158+16984del	ENSP00000484464.1:n.158+16981_158+16984del
ENST00000613706.4:c.215+4630_215+4633del	ENSP00000484976.1:n.215+4630_215+4633del
ENST00000617164.4:c.173_176del	ENSP00000480470.1:p.Asp58AlafsTer18
ENST00000619009.4:c.230_233del	ENSP00000482293.1:p.Asp77AlafsTer18
ENST00000620057.4:c.230_233del	ENSP00000481988.1:p.Asp77AlafsTer18
NM_000465.3:c.230_233del	NP_000456.2:p.Asp77AlafsTer18
NM_001282543.1:c.173_176del	NP_001269472.1:p.Asp58AlafsTer18
NM_001282545.1:c.215+4630_215+4633del	NP_001269474.1:n.215+4630_215+4633del
NM_001282548.1:c.158+16981_158+16984del	NP_001269477.1:n.158+16981_158+16984del
NM_001282549.1:c.230_233del	NP_001269478.1:p.Asp77AlafsTer18
NR_104212.1:n.357+4630_357+4633del
NR_104215.1:n.301-10922_301-10919del
NR_104216.1:n.372_375del
XM_011511567.1:c.176_179del	XP_011509869.1:p.Asp59AlafsTer18
XM_011511568.1:c.230_233del	XP_011509870.1:p.Asp77AlafsTer18
XM_017004613.1:c.329_332del	XP_016860102.1:p.Asp110AlafsTer18
XM_017004614.1:c.329_332del	XP_016860103.1:p.Asp110AlafsTer18
XR_002959322.1:n.420_423del
NM_000465.4:c.230_233del MANE Select	NP_000456.2:p.Asp77AlafsTer18
NM_001282543.2:c.173_176del	NP_001269472.1:p.Asp58AlafsTer18
NM_001282545.2:c.215+4630_215+4633del	NP_001269474.1:n.215+4630_215+4633del
NM_001282548.2:c.158+16981_158+16984del	NP_001269477.1:n.158+16981_158+16984del
NM_001282549.2:c.230_233del	NP_001269478.1:p.Asp77AlafsTer18
NR_104212.2:n.329+4630_329+4633del
NR_104215.2:n.273-10922_273-10919del
NR_104216.2:n.344_347del